Feasibility and outcomes of low-dose and low-frequency prophylaxis with recombinant extended half-life products (Fc-rFVIII and Fc-rFIX) in Ivorian children with hemophilia: Two-year experience in the setting of World Federation of Haemophilia humanitarian aid programme
Introduction: In sub-Saharan Africa, access to clotting factor concentrates (CFCs) is often extremely limited and published data on people with haemophilia on prophylaxis are almost not existent.
Aims and Methods: To assess the feasibility, barriers and outcomes of a low-dose and low-frequency prophylaxis with extended half-life (EHL) recombinant Fc fusion FVIII and FIX in Ivorian children on a two-year period in the setting of the World Federation of Hemophilia’s (WFH) humanitarian aid programme. Results: Twenty-five boys with haemophilia were included. Mean (SD) age at inclusion was 5.6 (2.5) years. The median [range] follow-up duration was 17 [11–24] months. Regimen of prophylaxis was 20 IU kg−1 1×/week in haemophilia A and every 10 days in haemophilia B. We observed a maximal reduction by 87.6% of the annual spontaneous joint bleeding rate and a slight decrease in the total HJHS scores (p = .047). Adherence problems related to parents’ low education level and shortage in CFCs were the main issues to carry out the programme. Inhibitors occurred in 12.5%. Conclusion: This study confirms the feasibility and efficacy of low-dose and low-frequency prophylaxis in young Ivorian children with haemophilia treated with EHL CFCs donated through the WFH humanitarian aid programme. This work also highlights the crucial role of adherence and the need for appropriate education to achieve prophylaxis. Finally, it reminds the paramount objective of achieving self-sufficient, sustainable and available haemophilia replacement therapy for all worldwide.
Comprehensive care on paper only? The challenge for physiotherapy provision in day to day haemophilia practice
Paul McLaughlin; Magnus Aspdahl; Ruth Elise D. Matlary; Brian O’Mahony; David Stephensen and Sébastien Lobet
Haemophilia. 2020 Oct 4.
Dear Editor: Comprehensive care for people with haemophilia (PWH) is endorsed by the World Federation of Haemophilia (WFH), and it is now the preferred model of care provision for people with inherited bleeding disorders.
This overarching approach to care provision is both a rapid acute service as well as a preventive medicine approach and has proven successful in terms of outcomes related to morbidity and mortality, quality of life and general health, even with the associated higher costs for the expertise required.1 Centres should have specialist haematologists/paediatricians, specialist nurse and physiotherapists, 24-hour laboratory and clinical support, as well as access to specialist orthopaedics, dental and HIV/hepatology services.
Paediatric patients with blood-induced ankle joint arthritis demonstrate physiological foot joint mechanics and energetics during walking
Dorien Tijskens, Sébastien Lobet, Maarten Eerdekens, Kathelijne Peerlinck, Cédric Hermans, An Van Damme, Filip Staes, Kevin Deschamps
Haemophilia. 2020 Aug 7
Aim: To compare foot joint kinetics and energetics in male paediatric boys with and without blood-induced ankle joint destruction to these of matched control groups.
Methods: A cross-sectional study was conducted in which 3D gait analysis data were collected from thirty-five male children (6-21 years) with severe or moderate haemophilia and twenty-six typically developing boys. Structural integrity of the tarsal foot joints of all haemophilic patients was assessed using the IPSG-MRI scale. All participants walked barefoot while adopting a physiological gait pattern. Three subgroups were created based on the IPSG-MRI scores: a group with no joint involvement (HealthyHaemo), with uni- or bilaterally involvement (PathoHaemo) and with only unilaterally involvement (Haemo_Unilateral_Patho). Results: The PathoHaemo group presented a significant lower Lisfranc peak dorsiflexion
angular velocity (34.7°/s vs 71.4°/s, P = .000, Cohen d = 1.31) and a significantly higher Lisfranc peak plantarflexion angular velocity (−130.5°/s vs −51.8°/s, P = .000, Cohen d = 0.98) compared to the control group. The Haemo_Unilateral_Patho side had a significant higher Chopart peak dorsiflexion angular velocity compared to the Haemo_Unilateral_Healthy side (41.7°/s vs 31.9°/s, P = .002, Cohen d = 1.16). Conclusion: No evidence for mild and severe gait deviations could be demonstrated. Internal moments, used as a surrogate measure of joint loading, quantified by the multi-segment foot model were found to be similar within the three subanalyses. We suggest that the ongoing musculoskeletal development in children compensates for structural damage to the ankle joint.
European principles of inhibitor management in patients with haemophilia: implications of new treatment options
C. Hermans , P. L. F. Giangrande, B. O’Mahony, P. de Kleijn, M. Bedford, A. Batorova, J. Blatný, K. Jansone and on behalf of the European Haemophilia Consortium (EHC) and the European Association for Haemophilia and Allied Disorders (EAHAD)
Given these specialized skills, a combined haemophilia-physiotherapy approach should be highly encouraged , along with international networks like the European Association for Haemophilia and Allied Disorders Physiotherapy Committee and the World Federation of Haemophilia Musculoskeletal Committee to support …
…collaboration, research and education for physiotherapists working in haemophilia.
Acquired multi-segment foot kinematics in haemophilic children, adolescents and young adults with or without haemophilic ankle arthropathy.
Sebastien Lobet; Kathelijne Peerlinck; Cedric Hermans; An Van Damme; Filip Staes; Kevin Deschamps
Haemophilia. 2020 Jul;26(4):701-710
Introduction and aim: The ankle joint remains vulnerable in children with haemophilia and is the primary joint affected. The purpose of this study was to dynamically characterize the segmental foot and ankle kinematics of male children, adolescents and young adults with or without ankle arthropathy.
Methods: The barefoot multi-segment foot kinematics of 70 ankles from 35 haemophilia subjects between 6 and 20 years old were captured with the Rizzoli Multi-Segment Foot Model. Joint damage of the tibiotalar and subtalar joints was scored using the IPSG-MRI score. The feet of patients with or without evidence of ankle arthropathy were compared with those of matched typically developing boys via a nonpaired comparison. The differences between the affected and nonaffected sides of patients with unilateral ankle arthropathy were assessed using a paired comparison. Results: Subjects without arthropathy demonstrated a nonsignificant trend towards a higher frontal plane range of motion (RoM) at the midfoot upon loading response and a lower sagittal plane RoM at the midfoot during midstance. No differences were observed between the affected side group and their matched control group. The affected side of unilaterally affected subjects exhibited a nonsignificant tendency towards a higher frontal plane RoM at the ankle joint upon loading response and terminal stance compared to the healthy side. Conclusion: Most patients maintained physiological rocker function of the ankle and had no (mal)adaptive motion patterns in the more distal joints of the foot. Therefore, established structural lesions may remain subclinical with respect to moderate functional activities like walking.
Clinical gait features are associated with MRI findings in patients with haemophilic ankle arthropathy.
Eerdekens M., Peerlinck K., Staes F., Pialat J.B., Hermans C., Lobet S., Deschamps K.
Haemophilia 2020 Mar;26(2):333-339.
Introduction: Haemophilic ankle arthropathy due to repeated joint bleeds often leads to altered gait in adult patients with haemophilia.
Aim: To investigate the association between clinical gait features and blood-induced ankle joint damage scored using MRI findings in patients with haemophilic ankle arthropathy. Methods: This observational study investigated 48 ankles of 24 patients with severe haemophilia (median age of 33 years). Blood-induced ankle joint damage was scored by an experienced radiologist using the International Prophylaxis Study Group (IPSG-)MRI score which evaluates the presence or absence of effusion, synovial hypertrophy, haemosiderin, surface erosions, subchondral cysts and cartilage degeneration. Using 3D gait analysis, peak ankle joint power generation and absorption (W/kg) were measured for each ankle since these are surrogate measures for joint loading during walking. Associations between MRI findings and these two clinical gait features were calculated using Spearman's ρ correlation with an α-level correction (α = 0.01) for multiple tests. Results: We found large negative associations between ankle joint peak power generation and IPSG-MRI score (ρ = −0.631; P = <.001), IPSG-MRI osteochondral subscore (ρ = −0.701; P = <.001), severity of synovial hypertrophy (ρ = −0.507; P = <.001) and haemosiderin (ρ = −0.400; P = .005). Associations were also found for ankle joint peak power absorption and IPSG-MRI score (ρ = −0.425; P = .003) and IPSG-MRI osteochondral subscore (ρ = −0.556; P = <.001). Conclusion: Severe blood-induced ankle joint damage relates to a lowered tolerance towards ankle joint mechanical loading during walking in patients with haemophilia.
Practical Guidance for Non- Specialist Physical Therapists Managing People with hemophilia and Musculoskeletal Complications.
A. Forsyth, G. Blamey, S. Lobet, P. McLaughlin.
Health, 2020, 12, 158-179.
People with hemophilia (PWH) have impaired blood coagulation and hemostasis. Bleeding into joints and muscles is the main manifestation of the disorder, causing severe joint damage and muscle complications.
Lifelong, regular physical therapy is therefore important for PWH, in order to support recovery from bleeds and reduce recurrences. Ideally, these individuals should be in the care of a hemophilia treatment center (HTC), where a physical therapist (PT) should be a regular part of the comprehensive team. However,
not all PWH have convenient access to an HTC, and they may be referred to local non-specialist PTs, who may have only limited experience with the condition, for day-to-day physical therapy treatment. This article, written by four experienced hemophilia PTs, introduces key aspects of the pathology of the hemophilic joint in adult PWH with musculoskeletal complications or established joint disease (or those with inhibitors) that are relevant to PTs. The characteristic differences between the joints of PWH and those of people with similar pathologies are clarified. Practical advice on how the physical therapy consultation can be adjusted for PWH is given, and the importance of communicating with the HTC emphasized. The aim of this narrative review is to raise awareness of hemophilia and joint disease for non-specialist PTs, and serve as helpful background information for PTs who encounter PWH with musculoskeletal complications or established joint disease in their clinics.
The biomechanical behaviour of ankle and foot joints during walking with shoes in patients with haemophilia.
Eerdekens M, Peerlinck K, Staes F, Hermans C, Lobet S, Deschamps K.
Haemophilia 2020 Jul;26(4):726-734
Introduction: Patients with haemophilia (PwH) often prefer shod walking over barefoot walking as footwear offers ankle joint stability and comfort during gait.
Yet, the biomechanical mechanisms contributing to the latter remain poorly understood. Aim: To explore the effect of shoes on the biomechanical functioning of the ankle and foot complex in PwH with and without haemophilic ankle arthropathy and to determine the amount of ankle joint loading during shod walking. Methods: We analysed data of PwH without haemophilic ankle arthropathy (n = 5) and PwH with severe haemophilic ankle arthropathy (n = 17) and a control group (n = 17). During 3D gait analysis, a four-segment kinetic foot model was used to calculate kinematic and kinetic parameters of the ankle, Chopart, Lisfranc and first metatarsophalangeal (MTP 1) joints during both barefoot and shod walking. Results: We found a significantly greater ankle joint power generation during shod walking compared to barefoot walking in PwH with severe haemophilic ankle arthropathy (P < .001). Chopart joint biomechanics were significantly lowered in all three groups during shod walking compared to barefoot walking. During shod walking, the ankle joint load was significantly lowered in both PwH groups (P = .039 and P = .002), but not in the control group (P = .952). Conclusion: Explorations in this study uncover a tendency that shoes alter the biomechanical functioning of the ankle and foot complex in PwH and simultaneously lower the ankle joint load during walking.
Cross-cultural adaptation and validation of the Canadian Haemophilia Outcomes-Kids’ Life Assessment Tool (CHO-KLAT) in Côte d’Ivoire (the Ivory Coast)
C. Lambert, N' D. Meité, I. Sanogo, S. Lobet, C. Hermans, S. Henrard, V. Blanchette, N.L. Young
Health and Quality of Life Outcomes (2020) Mar 18;18(1):76.
Health-related quality of life evaluation is recognized as an important outcome in the assessment of boys with haemophilia.
In fact, reliable health-related quality of life data are even more critical in developing countries to advocate for government agencies to develop national haemophilia care programmes. However, validated tools are not yet available in sub-Saharan African countries. Aims: The purpose of this study was to complete the cultural adaptation and validation of the Canadian Haemophilia Outcomes-Kids’ Life Assessment Tool version2.0 (CHO-KLAT2.0) in Côte d’Ivoire. Methods: The process included four steps: a linguistic adaptation, cognitive debriefing interviews with children and their parents, a validity assessment with the Pediatric Quality of Life Inventory (PedsQL) as a comparator, and a testretest
reliability assessment. Results: The initial Ivoirian version of the CHO-KLAT2.0 was developed through a linguistic adaptation performed in close collaboration with members of the local medical team and haemophilia community. Cognitive debriefings were completed with five boys and their parents, with the final Ivoirian version of the CHO-KLAT2.0 developed in September 2017. The validation process included 37 boys with haemophilia (mean age: 11.4 years; 34 with severe and three with moderate forms of haemophilia, all treated on demand) and their parents. Among the child-reported population (n = 20), we observed a mean CHO-KLAT2.0 score of 51.3 ± 9.2; there was a moderate correlation between the CHO-KLAT2.0
and PedsQL scores (r = 0.581; p = 0.007) and an inverse correlation of the CHO-KLAT2.0 and PedsQL scores with the global rating of the degree to which the boys were bothered by their haemophilia. The mean parent proxy CHOKLAT2.0 score (n = 17) was 53.5 ± 9.8. Among the parents, we found no significant correlation between the Ivoirian CHO-KLAT2.0 and PedsQL scores or between the parent-reported scores and the parent global ratings of bother. The test-retest intraclass correlation coefficient was 0.879 (95% CI: 0.673; 0.954) for the child-reported questionnaires and 0.880 (95% CI: 0.694; 0.955) for the proxy-reported questionnaires.
Le rôle de la kinésithérapie (physiothérapie) dans le suivi de l’hémophilie : l’indispensable complément
Si l’hémophilie est une maladie hématologique caractérisée par un déficit partiel ou complet du facteur VIII ou IX de la coagulation, ses complications hémorragiques affectent avant tout le système musculosquelettique.
Les saignements dans les articulations et les muscles sont les principales manifestations cliniques, causant de graves lésions articulaires et des complications musculaires particulièrement invalidantes. Outre le traitement substitutif confié à l’hématologue, le suivi des hémarthroses et de l’arthropathie chronique requiert une étroite collaboration avec le kinésithérapeute (physiothérapeute). Ce binôme entre le spécialiste du sang et de l’appareil locomoteur est indispensable pour prévenir efficacement les hémarthroses, gérer les épisodes aigus, apprécier l’état articulaire des patients hémophiles, et surtout traiter l’arthropathie chronique. La douleur, paramètre peu abordé en consultation, est également une problématique majeure chez les patients hémophiles. Une majorité de patients témoigne de douleurs invalidantes qui impactent leur quotidien. Des données préliminaires suggèrent qu’une proportion de patients hémophiles présente des douleurs de type neuropathique et/ou des altérations du mécanisme central de la douleur. L’évaluation rigoureuse de la douleur ainsi que le traitement conservateur de l’arthropathie peuvent ainsi être confiés à des kinésithérapeutes en collaboration avec des médecins, favorisant ainsi la guérison des saignements et permettant de réduire le nombre de récidives. De manière générale, les patients hémophiles sont suivis dans des centres spécialisés en hémophilie reconnus au sein desquels un kinésithérapeute devrait faire partie intégrante de l’équipe pluridisciplinaire. Cet article a pour but de fournir une revue pratique abordant la physiopathologie, les manifestations cliniques, le traitement des hémarthroses et de l’arthropathie chronique, et de mettre en lumière le rôle primordial de la kinésithérapie dans la gestion de ces atteintes musculosquelettiques du patient hémophile.
Cross-cultural adaptation and validation of Haem-A-QoL in Côte d’Ivoire
C. Lambert, N'D. Meité, I. Sanogo, S. Lobet, S. von Mackensen, C. Hermans
Haemophilia 2020 May;26(3):459-466.
Introduction: Health-related quality (HRQoL) evaluations are considered essential outcomes in the assessment of people with haemophilia.
In developing countries, reliable HRQoL data are even more critical whilst enabling government agencies to develop national haemophilia care programmes. However, validated tools are not yet
available in sub-Saharan African countries. Aims: This study sought to perform a cultural adaptation and validation of the Haemophilia Quality of Life Questionnaire for Adults (Haem-A-QoL) in Côte d'Ivoire. Methods: The process comprised several steps, such as linguistic adaptation, cognitive debriefing interviews with adult haemophilia patients and psychometric testing,
including reliability (internal consistency, test-retest reliability) and validity assessments (convergent with EQ-5D-5L, criterion with HJHS 2.1, known-groups). Results: The final Ivoirian Haem-A-QoL version was obtained in December 2017 following linguistic adaptation and cognitive debriefings with six participants. The validation process included 25 patients, mainly haemophilia A patients (88%) with severe forms (80%). All participants received on-demand treatment, with joint impairment observed in 92%. Internal consistency and test-retest reliability of the Ivoirian Haem-A-QoL were very good. A Pearson correlation analysis revealed a moderate negative correlation between EQ-VAS and total Haem-A-QoL scores and a moderate positive correlation between HJHS 2.1 and total Haem-A-QoL scores. Conclusions: A cross-culturally adapted and validated Haem-A-QoL version in Côte d'Ivoire is now available, enabling measurement of intervention outcomes in the targeted population and Ivorian participation to multisite international trials. However, further work is needed to ensure optimal understanding of HRQoL questionnaires, previously developed in culturally
Blood-induced cartilage damage alters the ankle joint load during walking.
Eerdekens M, Peerlinck K, Staes F, Pialat PJ, Hermans C, Lobet S, Scheys L, Deschamps K.
J Orthop Res. 2020 May 13.
Ankle cartilage damage due to repeated joint bleeds often leads to altered gait in adult patients with hemophilia. It is therefore of clinical importance to develop an understanding of the biomechanical gait features in hemophilia patients with and without blood-induced cartilage damage and age-matched control subjects.
We recruited a control group (n = 17), patients with hemophilia (PwH) without blood-induced ankle cartilage damage (PwH_NoCartDam , n = 5) and PwH with severe blood-induced ankle cartilage damage (PwH_CartDam , n = 19). We collected three-dimensional gait analysis data with following outcome variables in the ankle, Chopart and the first metatarsophalangeal (MTP 1) joints: range of motion (ROM) during stance phase, peak joint moment and powers. Biomechanical loading (BW) was quantified as the joint reaction forces using inverse dynamic analysis. Loading rate (BW/s) and impulse (BW*s) were calculated between 50% and 70% of stance phase. All biomechanical variables of the ankle joint were significantly lowered in the PwH_CartDam group compared with both the control subjects and the PwH_NoCartDam group. No compensatory biomechanical function was observed in other foot joints. An ankle loading rate of 2.64 ± 0.83 BW/s was observed in the control group, which was significantly higher than 1.75 ± 0.43 BW/s (P = .049) and 1.22 ± 0.59 BW/s (P < .001) in respectively the PwH_NoCartDam group and PwH_CartDam group. Patients with severe blood-induced cartilage damage demonstrated a (mal)adaptive gait strategy as they experience difficulties to properly unload the ankle cartilage during walking.
Development and evaluation of appropriate, culturally adapted educational tools for Ivorian patient with haemophilia, haemophilia carriers and their families
Lambert C, Méité N, Sanogo I, Lobet S, Hermans C.
Haemophilia, 2019 Sep;25(5):838-844.
Introduction: Patient education is the cornerstone of the management of chronic diseases like haemophilia.
The education of patients with haemophilia (PWH), haemophilia carriers and their families requires educational materials adapted to their socio‐cultural situations for maximum effectiveness. These tools are currently lacking in developing countries like Côte d’Ivoire. Aims: We sought to develop educational materials adapted to the Ivoirian context, assess their short‐ and long‐term impacts on knowledge about haemophilia and evaluate the participants’ motivation and their satisfaction with the tools. Methods: Following their elaboration, the materials were administered to 71 participants (37 PWH, 29 carriers and 5 fathers), whose level of knowledge was assessed before (T0), just after (T1), and 1 year following the intervention (T2). We evaluated, analysed and compared the scores at T0, T1 and T2 and evaluated motivation at T0 and satisfaction at T1. Results: All participants significantly improved their skills at T1 (P < 0.001), maintaining a sustained and significant improvement at T2 in comparison with T0 (P < 0.001). In all participants, we observed a high degree of motivation towards improving their knowledge and a high degree of satisfaction with the materials. Conclusions: Appropriate, culturally adapted educational tools focused on haemophilia are now available in Côte d’Ivoire. These materials will likely contribute to improving haemophilia awareness, to implementing screening, prevention and selfmanagement of the disease and to positively impacting the outcomes of Ivoirian PWH in the long term.
Implementation and assessment of a self- and community-based rehabilitation programme in patients with haemophilia from Côte d’Ivoire.
Lobet S, Meité N, Koninckx MI, Van Overstraeten A, Kamagate AM, Hermans C, Lambert C.
Haemophilia. 2019 Sep;25(5):859-866.
Introduction: In resource‐constrained countries, few patients with haemophilia (PWH) have access to clotting factor concentrates (CFC), with increased musculoskeletal (MSK) complications.
Physiotherapy actively contributes to preventing MSK complications, minimizing joint damage and reducing pain. Aim: To assess the impact of a 20‐week self‐ and community‐based rehabilitation (CBR) programme in Ivorian PWH. Methods: Fifty participants underwent a clinical and functional baseline assessment with identification of joints’ functional defects and initiation of an individualized exercise programme comprising exercises to improve strength, joint mobility and proprioception. Hemophilia Joint Health Score (HJHS), 2‐minute walking test (2MWT), Timed Up and Go (TUG), goniometry and maximal isometric voluntary contractions using the MicroFET2 were performed at baseline (T1) and at Week 20 (T2). Results: At T2, there was a significant improvement in both the 2MWT and TUG tests. The HJHS total score decreased significantly from 23.6 ± 14.2 at T1 to 20.4 ± 13 at T2. A significant improvement in joint health was found in the left elbow, right knee and right ankle, with elements correlating with joint function responsible for these improvements. A strong programme adherence was observed, with 94% of participants reporting regular exercise performance and a high degree of satisfaction. Conclusion: The programme with its encouraging results is meant to be the first step towards a more ambitious project. Self‐based and CBR programmes are inexpensive and efficient treatment options designed to minimize the detrimental effects of joint and muscle bleedings, and to increase the functional independence and quality of life of PWH with limited access to CFC and physiotherapy.
Scope of practice of haemophilia physiotherapists: a European survey.
Stephensen D, de Kleijn P, Matlary RED, Katzerova M, McLaughlin P, Ryan A, Lobet S on behalf of the EAHAD Physiotherapists Committee.
Haemophilia 2019 May;25(3):514-520.
Introduction: European guidelines on the care of haemophilia recommend ready access to a range of services provided by a multidisciplinary team of specialists including physiotherapy.
However, the scope of physiotherapy provided is unknown. Methods: The Physiotherapists Committee of the European Association for Haemophilia and Allied Disorders (EAHAD) conducted a web‐based survey to quantify the role and scope of practice of physiotherapists involved in haemophilia care. The survey was sent to more than 200 physiotherapists registered on the EAHAD database. Questions concerned their work practices including assessment and treatment activities and level of autonomy. Results: Eighty physiotherapists from twenty‐four European countries responded. Considerable heterogeneity exists in roles, responsibilities, and clinical practice of physiotherapists, particularly in access to and type of physiotherapy treatment provided, as well as the skill set and autonomy of physiotherapists to make independent assessment and treatment decisions. Discussion: This pan‐European survey establishes a context to support physiotherapy role development and professional identity. Key recommendations include the following: (a) establishing a pan‐European network to support collaboration and education for physiotherapists working in haemophilia, (b) developing a core skills and capability framework to ensure person‐centred approaches are central as well as working in partnership with those with the condition to maximize early recovery, support self‐management and enablement in remaining active and independent, (c)
regular training, standardized validation and maintenance of competency for assessment tools, (d) well‐designed randomized clinical studies with larger numbers of participants from multiple sites should be the focus of future research.
Haemophilia in Côte d’Ivoire (the Ivory Coast) in 2017: Extensive data collection as part of the World Federation of Hemophilia’s twinning programme.
Lambert C, Meité N, Sanogo I, Lobet S, Adjambri E, Eeckhoudt S, Hermans C.
Haemophilia. 2019 Mar 25(2):236-243.
Introduction: In sub‐Saharan African countries, research on haemophilia is limited.
Since 2015, a partnership has been established through the World Federation of Hemophilia (WFH)’s twinning programme between the haemophilia treatment centre (HTC) of the Centre Hospitalier universitaire of Yopougon in Abidjan, Côte d’Ivoire, and the Cliniques universitaires Saint‐Luc of Brussels, Belgium. Aim: This study sought to collect accurate, and detailed demographic, clinical, and laboratory data on the whole identified Ivorian haemophilia population. Methods: A prospective study was conducted in 2017 in Yopougon’s HTC. Participants were assessed through multidisciplinary workups including interviews,
logbook review, pedigree establishment, clinical examination and laboratory testing. Results: Data on 81 patients with haemophilia (PWH) (78 severe and moderate) were collected. Postcircumcision bleeding was the most common diagnosis reason (32%). Mouth bleeds and skin wounds accounted for 55.2% of bleeds. Pedigrees revealed 63 deaths in affected relatives among 33 families. Most PWHs (76.5%) were treated on demand, and 21% had never been exposed to clotting factor. Non‐substitutive therapies (tranexamic acid [43%], physiotherapy [11%] and DDAVP [0%]) were underused. Overweight was uncommon. Knees were the most clinically affected joints at the Hemophilia Joint Health Score. Inhibitors were present in 7.8% of previously treated PWHs. Conclusions: This study highlights the value of simple, feasible and inexpensive tools to collect data in the Ivorian haemophilia population and provides the basis for developing and implementing locally appropriate strategies to improve screening, diagnosis, preventive care, treatment and education. It demonstrated the WFH twinning programme benefits for haemophilia care in the developing world.
Hemophilia carrier’s awareness, diagnosis, and management in emerging countries: a cross-sectional study in Côte d’Ivoire (Ivory Coast)
C. Lambert ,N ’ D. Meité, I. Sanogo, S. Lobet, E. Adjambri, S. Eeckhoudt, C. Hermans.
Orphanet Journal of Rare Diseases 2019 Feb 1;14(1):26.
Little data is available on awareness of hemophilia carrier condition or associated bleeding risk and management in Sub-Saharan African countries.
This study sought to identify hemophilia carriers in Côte d’Ivoire in order to collect data on demographics, bleeding phenotype, and laboratory results. Another purpose was to provide Ivorian hemophilia carriers with counseling on their risk of bleeding and of having children with hemophilia. A 12-month prospective study was conducted involving Ivorian hemophilia carriers recruited trough pedigree analysis pertaining to 81 hemophilia patients followed-up at the Yopougon Hemophilia Treatment Center in Abidjan. They were assessed using in-depth interviews, pedigree analysis, and laboratory testing. Results: Sixty-one subjects comprising 27 obligate and 34 possible carriers were recruited. None had previously been assessed, with 64% unaware of their carrier status despite a familial history of hemophilia in 69%. The most frequently reported bleeding symptom was menorrhagia (31%). Prolonged bleeding was reported after vaginal delivery in 19.6%, post-surgery in 4.9%, and post-dental extraction in 4.9%. Only one carrier was treated with tranexamic acid, with no other hemostatic therapy recorded. The median (range) clotting FVIII was 0.85 IU/mL (0.24–1.90 IU/mL) and FIX 0.60 IU/mL (0.42–1.76 IU/mL) in hemophilia A and B carriers, respectively. HA carriers had
a FVIII < 0.5 IU/mL in 12.5%. Conclusions: This study highlights the need of implementing care for hemophilia carriers in developing countries, and the high value of pedigree analysis for carrier identification, along with the relevance of diagnosis, treatment, and education of carriers, families, and caregivers.
Impact de l’activité physique sur trois comorbidités liées à l’hémophilie
Dans cet article, nous passons en revue trois comorbidités qui peuvent non seulement influer sur la capacité d’un patient à participer à une AP,
mais surtout qui peuvent également nettement être améliorées ou évitées par un mode de vie plus actif. ne s’agit donc pas d’un leurre, « Exercise is medicine » !
Recommendations on multidisciplinary management of elective surgery in people with haemophilia.
M.A. Escobar, A. Brewer, H. Caviglia, A. Forsyth, V. Jimenez-Yuste, L. Laudenbach, S. Lobet, P. McLaughlin, J.O.O. Oyesiku, E.C. Rodriguez-Merchan, A. Shapiro, L.P. Solimeno.
Haemophilia 2018 Sep 24(5):693-702.
Planning and undertaking elective surgery in people with haemophilia (PWH) is most effective with the involvement of a specialist and experienced multidisciplinary team (MDT) at a haemophilia treatment centre.
However, despite extensive best practice guidelines for surgery in PWH, there may exist a gap between guidelines and practical application. For this consensus review, an expert multidisciplinary panel comprising surgeons, haematologists, nurses, physiotherapists and a dental expert was assembled to develop practical approaches to implement the principles of multidisciplinary management of elective surgery for PWH. Careful preoperative planning is paramount for successful elective surgery, including dental examinations, physical assessment and prehabilitation, laboratory testing and the development of haemostasis and pain management plans. A coordinator may be appointed from the MDT to ensure that critical tasks are performed and milestones met to enable surgery to proceed. At all stages, the patient and their parent/caregiver, where appropriate,
should be consulted to ensure that their expectations and functional goals are realistic and can be achieved. The planning phase should ensure that surgery proceeds without incident, but the surgical team should be ready to handle unanticipated events. Similarly, the broader MDT must be made aware of events in surgery that may require postoperative plans to be changed. Postoperative rehabilitation should begin soon after surgery, with attention paid to management of haemostasis and pain. Surgery in patients with inhibitors requires even more careful preparation and should only be undertaken by an MDT experienced in this area, at a specialized haemophilia treatment centre with a comprehensive care model.
Postural control during a transition task in haemophilic children, adolescents and young adults with haemophilic ankle arthropathy.
Deschamps K, Staes F, Eerdekens M, Peerlinck K, Hermans C, Vandesande J, Lobet S.
Haemophilia 2018 Jul; 24(4) 667-674.
Background: The aim of this study was to determine whether young haemophilic boys with and without MRI-based signs of ankle arthropathy demonstrate reduced balance ability during a transition task with eyes open and eyes closed.
Methods: Thirty-four haemophilic bodies and 28 typically developing boys aged 6-20 years participated to this study. Structural integrity of the tarsal foot joints of all haemophilic boys was assessed with MRI. All participants performed a standard transition task from double-leg stance to single-leg stance with eyes open and eyes closed. Comparison of balance features derived from the centre of pressure displacement captured by a single force platform was performed between the different haemophilia subgroups and sex-age-height matched peers. Findings: The haemophilic boys without signs of arthropathy presented only a higher intermediate phase velocity during the eyes closed condition (P = .05). The haemophilic boys with signs of arthropathy had significantly higher displacement after the time to new stability point, and 95% Ellipse Sway Area and Balance Area compared to their matched peers during eyes open test (P < .05). Similar findings were observed during the eyes closed test for the displacement after the time to new stability point and 95% Ellipse Sway Area (P < .05). No significant differences were observed between affected and non-affected side of the unilateral affected patients. Interpretation: We suggest that the pathophysiological cascade associated with chronic bleeding episodes should not be considered as a “simple” musculoskeletal injury, hence more as a complex neurophysiological dysfunction which may originate both from unilateral and bilateral deterioration of the musculoskeletal system.
Assessment of passive musculoarticular ankle stiffness in children, adolescents and young adults with haemophilic ankle arthropathy.
Lobet S, Cartiaux O, Peerlinck K, Henrard S, Hermans C, Detrembleur C, Deschamps K.
Haemophilia. 2018 May;24(3):e103-e112.
Objectives: To measure passive musculoarticular ankle stiffness (PMAAS) and its intra- and interday reliability in adult control subjects without ankle disorders.
We also sought to quantify PMAAS in children, adolescents and young adults with haemophilia (CAAwH) taking into account the accurate tibiotalar and subtalar joints structural status obtained by magnetic resonance imaging (MRI). Methods: We included 23 CAAwH and 23 typically developing boys (TDB) matched by age, weight and height, along with 25 healthy volunteers for reliability assessment. All CAAwH underwent bilateral ankle MRI, with anatomical status assessed using the International Prophylaxis Study Group MRI scale. All CAAwH underwent PMAAS testing for both sides randomly vs the dominant side (DS) in TDBs. For assessing viscous stiffness (VS) and elastic stiffness (ES), eight different oscillation frequencies were randomly repeated three times for each subject. Results: Good-to-excellent intra- and interday reliability was observed for ES and VS variables. No relevant differences were observed between the ankle viscoelastic properties in CAAwH without joint damage and matched TDBs, whereas the study revealed significantly increased ES in the affected ankles of CAAwH with severe unilateral joint involvement compared to the non-affected joint. Conclusion: This study confirmed increased ES in the severely affected ankles of CAAwH compared to non-affected sides. No differences in the ankle viscoelastic properties of CAAwH with or without joint damage were observed, however, compared to matched TDB.
European principles of inhibitor management in patient with haemophilia.
Giangrande PLF, Hermans C, O'Mahony B, de Kleijn P, Bedford M, Batorova A, Blatný J, Jansone K; European Haemophilia Consortium (EHC) and the European Association for Haemophilia and Allied Disorders (EAHAD).
Background: In spite of recent major advances in the understanding and treatment of inhibitor development in patients with haemophilia, multidisciplinary management of many of these patients remains suboptimal and highly heterogenous across Europe.
Methods: Following a series of multidisciplinary meetings and a review of the literature, the European haemophilia community of health professionals and patients jointly defined practical optimum standards for ensuring and harmonizing treatment and care for patients with an inhibitor. Results: Ten complementary principles for the management of inhibitors in haemophilia have been developed, emphasizing the importance and benefits of a centralized, multidisciplinary, expert and holistic approach. Conclusions: This document will serve as a benchmark to improve the multidisciplinary and practical management of patients with inhibitor. Implementation and adherence to each of these principles should have a major positive impact on the management and outcomes of patients developing an inhibitor.
Reliability and clinical features associated with the IPSG MRI tibiotalar and subtalar joint scores in children, adolescents and young adults with haemophilia.
Objectives: To assess the reliability of the IPSG MRI scale for tibiotalar (TTJ) and subtalar joint (STJ) changes in young haemophilic patients, correlating MRI findings with functional scores and 3D-rearfoot kinematics.
Methods: A total of 37 haemophilic patients underwent bilateral MRI of the footankle, clinical evaluation and quantitative assessment of their 3D-rearfoot kinematics during walking. TTJ and STJ soft tissues were assessed twice along with osteochondral changes by two radiologists using the IPSG MRI scale. Inter- and intra-observer reproducibility of MRI scoring were tested by means of kappa statistics. Correlational analyses were performed between MRI findings and the Haemophilia Joint Health Score 2.1 (HJHS) and 3D-rearfoot kinematic data. Results: The intra-reader reliability of MRI scoring was good to excellent (Kappa: 0.62-1), whereas the inter-reader reliability was moderate to good (Kappa: 0.54-0.79). Weak yet significant correlations were found between the frontal plane rearfoot range of motion (ROM) during loading response of gait and STJ score, as well as between frontal plane rearfoot ROM during the terminal stance phase and the rearfoot osteochondral lesions. Conclusion: The IPSG score appears applicable to not only the TTJ but also the STJ. Contrary to TTJ lesions, those of the STJ do not correlate with the HJHS but do with 3D-rearfoot kinematic data.
Deficits of ankle muscle strength not found in children, adolescents and young adults with haemophilic ankle arthropathy.
Objectives: Adequate management of haemophilia patients requires early detection of joint impairment in relatively asymptomatic patients.
This study sought to quantify the impact of the ankle’s structural impairment on muscle strength in children, adolescent and young adults with haemophilia (CAAwH). Methods: Twenty-three CAAwH underwent bilateral magnetic resonance imaging (MRI) assessing the anatomical status of tibiotalar joint (TTJ) and subtalar joint (STJ) using the International Prophylaxis Study Group MRI scale. An isokinetic dynamometer enabled a detailed evaluation of muscle strength at slow and fast speed. In parallel, 10 typically developing healthy boys (TDB) participated in a 1-week interval test-retest assessment to assess the test’s reliability. Results: Forty-six MRI ankle scores were obtained, with 11 patients unilaterally affected and one bilaterally. Of the 13 affected feet, nine showed abnormalities at TTJ, three at the posterior STJ and the remaining one at both joints. Muscle strength was not reduced in CAAwH exhibiting TTJ and/or STJ arthropathy, as compared to healthy TDB, nor was there any difference between the CAAwH’s affected or unaffected sides. Conclusion: Contrarily to adult patients, CAAwH with repeated ankle bleeding may be less impaired than current structural evaluations imply, with possibly a latency between the occurrence of structural and functional damage
Biomechanical markers and theoretical concepts related to hemophilic ankle and subtalar joint arthropathy: introducing the term “hemophilic tarsal pan-arthropathy”.
Objectives: Background: Although regular factor replacement can reduce the incidence of joint bleeds and slow down the development of haemophilic arthropathy, the ankle joint remains particularly vulnerable even in children with haemophilia on primary or secondary prophylaxis and is now the primary joint affected.
The heterogeneity in the pathoaetiology of haemophilic ankle arthropathy means that the functional consequences of early stage of ankle arthropathy are difficult to define as early morphological and structural changes can be observed in clinically asymptomatic ankles. In this context, understanding biomechanics of the normal and arthritic foot is complex and difficult to quantify unless considering the foot as multiple functional segments using more sophisticated assessment tools such as multisegment foot models. However, this understanding can undoubtedly aid in the analysis of an underlying clinical problem and provide a strategic basis for a more optimal management. Aims: The purpose of this narrative review was firstly to revise information on the anatomy and biomechanics of the foot and ankle. Finally, related biomechanical markers of human motor performance, which are potentially implicated in the development of haemophilic ankle arthropathy, will be discussed based on published literature and expert opinion. Materials and methods: Searches in published literature were limited to the year 2000 onwards. Results: Although the ankle (tibiotalar joint) is the most commonly affected joint, associated subtalar joint (SJT) involvement is often seen. This would therefore imply that an alternative phraseology might be better. Discussion and conclusion: In this context, the authors propose the use of ‘haemophilic tarsal pan-arthropathy’ (HTPA) which encompasses both tibiotalar and subtalar joints.
3D mutisegment foot kinematics in children: A developmental study in typically developing boys.
Deschamps K, Staes F, Peerlinck K, Van Geet C, Hermans C, Matricali GA, Lobet S.
Gait and posture. 2017 Feb 52: 40-44.
Background: The relationship between age and 3D rotations objectivized with multisegment foot models has not been quantified until now.
The purpose of this study was therefore to investigate the relationship between age and multi-segment foot kinematics in a cross-sectional database. Methods: Barefoot multi-segment foot kinematics of thirty two typically developing boys, aged 6-20 years, were captured with the Rizzoli Multi-segment Foot Model. One-dimensional statistical parametric mapping linear regression was used to examine the relationship between age and 3D inter-segment rotations of the dominant leg during the full gait cycle. Results: Age was significantly correlated with sagittal plane kinematics of the midfoot and the calcaneus-metatarsus inter-segment angle (p<0.0125). Age was also correlated with the transverse plane kinematics of the calcaneus-metatarsus angle (p<0.0001). Conclusion: Gait labs should consider age related differences and variability if optimal decision making is pursued. It remains unclear if this is of interest for all foot models, however, the current study highlights that this is of particular relevance for foot models which incorporate a separate midfoot segment.
Postural control of typical developing boys during the transition from double-leg stance to single-leg stance.
Deschamps K, Staes F, Peerlinck K, Van Geet K, Hermans C & Lobet S.
Eur J Pediatr 2017;176(2): 273-278.
Literature is lacking information about postural control performance of typically developing children during a transition task from double-leg stance to single-leg stance.
The purpose of the present study was therefore to evaluate the clinical feasibility of a transition task in typical developing age groups as well as to study the correlation between associated balance measures and age.Thirty-three typically developing boys aged 6-20 years performed a standard transition task from DLS to SLS with eyes open (EO) and eyes closed (EC). Balance features derived from the center of pressure displacement captured by a single force platform were correlated with age on the one hand and considered for differences in the perspective of limb dominance on the other hand.All TDB (typically developing boys) were able to perform the transition task with EO. With respect to EC condition, all TDB from the age group 6-7 years and the youngest of the age group 8-12 years (N = 4) were unable to perform the task. No significant differences were observed between the balance measures of the dominant and non-dominant limbs.With respect to EO condition, correlation analyses indicated that time to new stability point (TNSP) as well as the sway measure after this TNSP were correlated with age (p < 0.0001). For the EC condition, only the anthropometrically scaled sway measure was found to be correlated (p = 0.03). Conclusion: The results provide additional insight into balance development in childhood and may serve as a useful basis for assessing balance impairments in higher functioning children with musculoskeletal problems. What is Known: • Reference data regarding postural balance of typically developing children during walking, running, sit-to-stand, and bipodal and unipodal stance has been well documented in the literature. • These reference data provided not only insight into the maturation process of the postural control system, but also served in diagnosing and managing functional repercussions of neurological and orthopedic pathologies. What is New: • Objective data regarding postural balance of typical developing children during a transition task from double-leg stance to single-leg stance. • Insight into the role of maturation on the postural control system.
The Second Team Haemophilia Education Meeting, 2016, Frankfurt, Germany.
Berntorp E, Dargaud Y, Hart D, Lobet S, Mancuso ME, d'Oiron R, Perry D, Pollard D, van den Berg M, Blatný J,
Chambost H, Doria AS, Holme PA, Kaczmarek R, Mantovani L, McLaughlin P,Nanayakkara L, Petrini P, Sannié T, Laane E, Maia R, Dettoraki A, Farrell A, Halimeh S, Raza S, Taylor S.
Eur J Haematol. 2017 Jan;98 Suppl 85:1-15.
The first Team Haemophilia Education (THE) Meeting was held on 7-8 May 2015 in Amsterdam, The Netherlands. It aimed to promote the optimal care of patients with haemophilia through education of the multidisciplinary treatment team.
This was achieved by reviewing the latest developments in haemophilia management, considering how these can be implemented in the clinic to improve patient care and providing a platform for networking and debate for all haemophilia treatment team members. The second THE Meeting was held on 19-20 May in Frankfurt, Germany, and participants included doctors, nurses, physiotherapists, patient representatives and data management staff from 20 different countries. Topics covered the role of the multidisciplinary team in delivering the best haemophilia care, challenges in the management of haemophilia across Europe, available clotting factor treatments, future treatments and the use of genetics in advising carriers of haemophilia. This report is a summary of the key developments in haemophilia care presented by various investigators and healthcare professionals at THE Meeting 2016
Stop only advising physical activity in adults with haemophilia… prescribe it now! The role of exercise therapy and nutrition in chronic musculoskeletal diseases.
Lobet S., Lambert C., Hermans C.
In the past, patients with haemophilia (PWH) have been advised against participation in physical activity. It is now recognized that properly managed exercise and participation in appropriate sports can be highly beneficial for them.
Physical activity is important in both prevention and treatment of some of the major conditions of our time, including cardiovascular disease, diabetes, cancer, hypertension, obesity, osteoporosis and depression. Exercise in PWH is associated with specific challenges, with injuries and potential bleeds being possible drawbacks. However, correctly managed participation can improve activity level and physical performance.
Partnering to change the world for people with haemophilia: 6th Haemophilia Global Summit, Prague, Czech Republic, 24–26th September 2015.
Astermark J., Hart D., Lobet S., Blatny J., D’Oiron R., Kenet G., Dolan G., Libotte V., Hermans C.
European Journal of Haematology 2016; 97 Suppl. 84 (3–23).
The 6(th) Haemophilia Global Summit was held in Prague, Czech Republic, in September 2015.
The programme was designed by an independent Scientific Steering Committee of haemophilia experts and aimed to share optimal management strategies for haemophilia at all life stages, explore recent potential advances in the management of haemophilia A and B and discuss challenges in haemophilia care. In this supplement from the meeting, Dan Hart reviews the lessons that can be learnt from cost-constrained environments with regard to improving care for people with haemophilia globally. Sébastien Lobet discusses the importance of physical activity for optimising care and Roseline d’Oiron and Jan Blatný consider the role of real-world data in understanding the effect of treatment in a clinical setting over the long term and the true impact of treatment on the day-to-day life of the patient. Gili Kenet addresses the current challenges relating to the optimal management of prophylaxis, and Gerry Dolan and Cedric Hermans discuss the value of pharmacokinetic (PK) parameters in informing treatment decisions. Cedric Hermans and Valérie Libotte explore the importance of considering social and occupational development factors as an integral part of haemophilia care, and Jan Astermark reviews key strategies to predict and prevent inhibitor development.
L’analyse quantifiée de la marche: principes et applications cliniques.
S. Lobet, C. Hermans, Ch. Detrembleur
Louvain médical 2016, Vol. 135, no.4, p. 207-212 (2016).
La marche est une succession de mouvements cycliques répétitifs avec des déplacements s’effectuant dans les trois plans de l’espace.
Il s’agit d’un phénomène complexe qui intéresse non seulement les articulations des membres inférieurs mais sollicite la totalité du corps. Celle-ci qui peut être perturbée par une grande variété d’affections musculo-squelettiques d’origine neurologique périphérique ou centrale, d’origine musculaire ou ostéoarticulaire avec mise en oeuvre de mécanismes compensateurs tels que la boiterie. Grâce aux progrès techniques et médicaux, les laboratoires d’analyse de marche se sont développés. Leur objectif est 1) d’évaluer avec précision les troubles locomoteurs afin d’optimiser les options thérapeutiques; 2) d’objectiver de manière quantifiable les effets d’un acte thérapeutique; 3) viser à améliorer notre compréhension des répercussions de ces pathologies sur les limitations fonctionnelles du patient. L’analyse de la marche nécessite l’acquisition conjointe des variables cinématiques globales
et segmentaires, des variables dynamiques, des variables énergétiques et d’électromyographie. Les variables cinématiques segmentaires permettent de décrire le déplacement des segments corporels dans les trois plans de l’espace. Celles-ci sont enregistrées à l’aide de caméras infrarouges et permettent de reconstituer la démarche du patient dans les trois dimensions. Les variables dynamiques sont enregistrées à l’aide d’une plate-forme de force. Elles permettent de déterminer les forces musculaires engendrant le mouvement et le type de contraction musculaire réalisée. Inconsciemment, nous marchons avec une consommation énergétique minimale. Les variables énergétiques enregistrent la consommation en oxygène du patient par unité de distance parcourue et représentent ainsi un très bon indicateur de la “pénibilité” du patient à se déplacer. L’électromyographie permet quant à elle d’identifier les muscles responsables du mouvement.
Managing Haemophilia for life: 5th Haemophilia Global Summit.
Hermans C., Dolan G., Jennings I, Windyga J, Lobet S., Rodriguez-Merchan EC, Di Minno MN, Jimenez-Yuste V, O'Mahony B.
Eur J Haematol. 2015 Oct; 95 Suppl 78: 1-25.
The 5th Haemophilia Global Summit was held in Barcelona, Spain, in September 2014.
The programme was designed by an independent Scientific Steering Committee of haemophilia experts and explored issues relevant to the practical management of haemophilia, as well as key opportunities and challenges for care in the future. The topics outlined in this supplement were selected by the Scientific Steering Committee for their relevance to improving haemophilia care globally. In this supplement from the meeting, Gerry Dolan explores pharmacokinetics and dynamics in haemophilia, and Gerry Dolan and Ian Jennings jointly address the role of the laboratory in haemophilia care. The potential benefits of lowdose prophylaxis regimens for people with haemophilia in the developing world are reviewed by Jerzy Windyga, and the question of whether ‘Future haemophilia research should be undertaken in the developing world’ is debated by Jerzy Windyga and Cedric Hermans. Management strategies for ankle arthropathy are discussed by Sébastien Lobet and E. Carlos Rodrıguez-Merchan, and the use of ultrasound for the early detection of haemophilic arthropathy is addressed by Matteo Nicola Dario Di Minno and Vıctor Jimenez-Yuste. Finally, the role of patients in the future of haemophilia care is reviewed by Brian O’Mahony.
Managing haemophilia for life: 4th haemophilia global summit.
Astermark J, Dolan G, Hilberg T, Jiménez-Yuste V, Laffan M, Lassila R, Lobet S, Martinoli C, Perno CF.
Haemophilia. 2014 Jul;20 Suppl 5:1-20.
The 4th Haemophilia Global Summit was held in Potsdam, Germany, in September 2013 and brought together an international faculty of haemophilia experts and delegates from multidisciplinary backgrounds.
The programme was designed by an independent Scientific Steering Committee of haemophilia experts and explored global perspectives in haemophilia care, discussing practical approaches to the optimal management of haemophilia now and in the future. The topics outlined in this supplement were selected by the Scientific Steering Committee for their relevance and potential to influence haemophilia care globally. In this supplement from the meeting, Jan Astermark reviews current understanding of risk factors for the development of inhibitory antibodies and discusses whether this risk can be modulated and minimized. Factors key to the improvement of joint health in people with haemophilia are explored, with Carlo Martinoli and Víctor Jiménez-Yuste discussing the utility of ultrasound for the early detection of haemophilic arthropathy. Other aspects of care necessary for the prevention and management of joint disease in people with haemophilia are outlined by Thomas Hilberg and Sébastian Lobet, who highlight the therapeutic benefits of physiotherapy and sports therapy. Riitta Lassila and Carlo-Federico Perno describe current knowledge surrounding the risk of transmission of infectious agents via clotting factor concentrates. Finally, different types of extended half-life technology are evaluated by Mike Laffan, with a focus on the practicalities and challenges associated with these products.
Optimal management of hemophilic arthropathy and hematomas.
Hemophilia is a hematological disorder characterized by a partial or complete deficiency of clotting factor VIII or IX.
Its bleeding complicationsprimarily affect the musculoskeletal system. Hemarthrosis is a major hemophilia-related complication, responsible for a particularly debilitating chronic arthropathy, in the long term. In addition to clotting factor concentrates, usually prescribed by the hematologist, managing acute hemarthrosis and chronic arthropathy requires a close collaboration between the orthopedic surgeon and physiotherapist. This collaboration, comprising a coagulation and musculoskeletal specialist, is key to effectively preventing hemarthrosis, managing acute joint bleeding episodes, assessing joint function, and actively treating chronic arthropathy. This paper reviews, from a practical point of view, the pathophysiology, clinical manifestations, and treatment of hemarthrosis and chronic hemophilia-induced arthropathy for hematologists, orthopedic surgeons, and physiotherapists.
The benefits of exercise for patients with haemophilia and recommendations for safe and effective physical activity.
Negrier C, Seuser A, Forsyth A, Lobet S, Llinas A, Rosas M, Heijnen L.
Haemophilia (2013) Jul;19(4):487-98.
Most health care professionals involved in the management of people with haemophilia (PWH) believe that exercise is beneficial and its practice is widely encouraged. This article aims to demonstrate that appropriate exercise (adapted to the special needs of the individual PWH) may be beneficial for all PWH through improved physical, psychosocial and medical status.
Based on evidence gathered from the literature, many PWH, particularly those using long-term prophylaxis or exhibiting a mild/moderate bleeding phenotype, are as active as their healthy peers. PWH experience the same benefits of exercise as the general population, being physically healthier than if sedentary and enjoying a higher quality of life (QoL) through social inclusion and higher self-esteem. PWH can also gain physically from increased muscle strength, joint health, balance and flexibility achieved through physiotherapy, physical activity, exercise and sport. Conversely, very little data exist on activity levels of PWH in countries with limited resources. However, regarding specific exercise recommendations in PWH, there is a lack of randomized clinical trials, and consequently formal, evidence-based guidelines have not been produced. Based on published evidence from this review of the literature, together with the clinical experience of the authors, a series of recommendations for the safe participation of PWH in regular physical activities, exercises and sport are now proposed. In summary, we believe that appropriately modified programmes can potentially allow all PWH to experience the physical and psychosocial benefits of being physically active which may ultimately lead to an improved QoL.
Three-Dimensional Gait Analysis Can Shed New Light on Walking in Patients with Haemophilia.
Lobet S, Detrembleur C, Massaad F, Hermans C.
The Scientific World Journal (2013), May 13;2013:284358.
In patients with haemophilia, the long-term consequences of repeated haemarthrosis include joint cartilage damage and irreversible chronic arthropathy, resulting in severe impairments in locomotion.
Quantifying the extent of joint damage is therefore important in order to prevent disease progression and compare the efficacy of treatment strategies. Musculoskeletal impairments in PWH may stem from structural and functional abnormalities, which have traditionally been evaluated radiologically or clinically. However, these examinations are performed in a supine position (i.e., non-weight-bearing condition). We therefore suggest three-dimensional gait analysis (3DGA) as an innovative approach designed to focus on the functional component of the joint during the act of walking. This is of the utmost importance, as pain induced by weightbearing activities influences the functional performance of the arthropathic joints significantly. This review endeavors to improve our knowledge of the biomechanical consequences of multiple arthropathies on gait pattern in adult patients with haemophilia using 3DGA. In PWH with arthropathy, the more the joint function was altered, the more the metabolic energy was consumed. 3DGA analysis could highlight the effect of an orthopedic disorder in PWH during walking. Indeed, mechanical and metabolic impairments were correlated to the progressive loss of active mobility into the joints.
Impact of multiple joint impairments on the energetics and mechanics of walking in patients with haemophilia.
Lobet S, Detrembleur C., Hermans C.
Haemophilia 2013 Mar;19 (2):e66-72.
Few studies have assessed the changes produced by multiple joint impairments (MJI) of the lower limbs on gait in patients with haemophilia (PWH).
In patients with MJI, quantifiable outcome measures are necessary if treatment benefits are to be compared. This study was aimed at observing the metabolic cost, mechanical work and efficiency of walking among PWH with MJI and to investigate the relationship between joint damage and any changes in mechanical and energetic variables. This study used three-dimensional gait analysis to investigate the kinematics, cost, mechanical work and efficiency of walking in 31 PWH with MJI, with the results being compared with speed-matched values from a database of healthy subjects. Regarding energetics, the mass-specific net cost of transport (C(net)) was significantly higher for PWH with MJI compared with control and directly related to a loss in dynamic joint range of motion. Surprisingly, however, there was no substantial increase in mechanical work, with PWH being able to adopt a walking strategy to improve energy recovery via the pendulum mechanism. This probable compensatory mechanism to economize energy likely counterbalances the supplementary work associated with an increased vertical excursion of centre of mass (CoM) and lower muscle efficiency of locomotion. Metabolic variables were probably the most representative variables of gait disability for these subjects with complex orthopaedic degenerative disorders.
Functional assessment of haemophilic arthropathy with three-dimensional gait analysis.
In patients with haemophilia, the long-term consequences of repeated haemarthrosis include joint cartilage damage and irreversible chronic arthropathy, resulting in severe impairments in locomotion.
Quantifying the extent of joint damage is of paramount importance in order to prevent disease progression and compare the efficacy of treatment strategies, such as prophylaxis. Here we summarise the results of several studies establishing threedimensional gait analysis as an innovative approach to evaluate functionally haemophilic arthropathy. This work also provides new insights into the understanding of the biomechanical consequences of haemophilic arthropathy.
Impact of ankle osteoarthritis on the energetic and mechanics of gait: The case of hemophilic arthropathy.
Lobet S, Hermans C, Bastien G.J., Massaad F., Detrembleur C.
Clinical Biomechanics 27 (2012), 625-31.
Background: Osteoarthritis may affect joints in any part of the body, including the ankle. The purpose of this study was to assess the impact of ankle osteoarthritis on the energetics and mechanics of gait, while taking into account the effect of slower speed generally adopted by patients with osteoarthritis.
Methods: Using a motion analysis system, synchronous kinematic, kinetics, spatiotemporal, mechanics and metabolic gait parameters were measured in 10 patients diagnosed with ankle osteoarthritis consecutive to hemophilia. The subjects walked at a self-selected speed and their performance was compared to speed-matched normal values obtained in healthy control subjects. Findings: Speed-normalization using a Z-score transformation showed a significant increase in metabolic cost (Z=1.78; P=0.006) and decrease in mechanical work (Z=-0.97; P=0.009). As a consequence, muscular efficiency also decreased (Z=-0.97; P=0.001). These changes were associated with a surprising efficacy of the pendular mechanism, i.e., an improved recovery index (Z=0.97; P=0.004). Interpretation: Our findings suggest that patients with ankle osteoarthritis adopt a walking strategy which improves recovery through the pendular mechanism. This may be a compensatory mechanism in order to economize energy which would counterbalance the energy waste due to low muscle efficiency. These modifications are proportional to the impaired ankle function. Our data provides a quantitative baseline to better understand the dynamics of ankle osteoarthritis and determine the individual role that lower limb joints play in the multiple chronic joint affections.
Functional impact of custom-made foot orthoses in patients with haemophilic ankle arthropathy.
Lobet S, Detrembleur C, Lantin AC, Haenecour L, Hermans C.
Haemophilia (2012) May;18(3):e227-35.
Although foot orthoses are often prescribed to patients with haemophilia (PWH) and ankle arthropathy, the efficacy and biomechanical effects of such devices are not fully understood.
We experimentally investigated the effects of orthopedic insoles (OI) and shoes (OS) in PWH presenting ankle arthropathy, with specific attention being paid to pain, spatiotemporal parameters, kinematics and kinetics of lower limb joints, as well mechanical and energetic variables. Using three-dimensional gait analysis (3DGA), synchronous kinematics, kinetics, spatiotemporal, mechanics, and metabolic gait parameters were measured in 16 PWH with ankle arthropathy. The revised Foot Function Index (FFI-R) and 3DGA were determined in patients wearing neutral running shoes at two time points (T0 and T1), with OI (n = 11) or OS (n=5) being subsequently prescribed. Patients, while wearing their orthoses, were re-evaluated using 3DGA, FFI-R, and satisfaction questionnaires (T2). OI and OS provided significant pain relief and comfort improvement in more than half of the patients, with minimal side effects. OI had limited impact on gait pattern, whereas OS significantly improved the propulsive function of the ankle. Biomechanical changes induced by OI and OS were independent of their ability to improve comfort, while being insufficient to influence knee and hip kinematics and kinetics, or mechanical and energetic variables. These findings suggest that OI and OS may have beneficial effects on ankle joints in PWH. Self-reported clinical tools such as FFI-R and satisfaction questionnaires are sufficiently sensitive for assessing the efficacy of foot orthoses in PWH.
De behandeling van hemartrose bij hemofiliepatienten: Deel 1 pathofysiologie en diagnose. Deel 2 therapie
Hemofilie is een bloedziekte die wordt gekenmerkt door een partiële of volledige factor VIII- of factor IX-deficiëntie en die vooral bloedingen veroorzaakt in spieren en gewrichten.
Hemartrose is inderdaad één van de belangrijkste complicaties van hemofilie. Op lange termijn veroorzaakt hemartrose een chronische, bijzonder invaliderende artropathie. Naast toediening van stollingsfactorconcentraat, gewoonlijk door de hematoloog, vergt de behandeling van acute hemartrose en vooral van chronisch gewrichtslijden een nauwe samenwerking met de orthopedisch chirurg en/of fysiotherapeut. Die samenwerking tussen de hematoloog en de specialist van het bewegingsapparaat is noodzakelijk om gewrichtsbloedingen te voorkomen, om acute episoden te behandelen, om de gewrichtstoestand van patiënten met hemofilie te evalueren en vooral om chronisch gewrichtslijden te behandelen. Dit artikel is een praktisch overzicht bestemd voor hematologen, orthopedische chirurgen en fysiotherapeuten en bespreekt de pathofysiologie, de klinische verschijnselen en de behandeling van hemartrose en chronisch gewrichtslijden als gevolg van hemofilie.
La prise en charge des hémarthroses chez les patients hémophiles. Partie 1: pathophysiologie et diagnostic. Partie 2: Traitement
Si l’hémophilie est une maladie hématologique caractérisée par un déficit partiel ou complet du facteur VIII ou IX de la coagulation, ses complications hémorragiques affectent avant tout le système musculo-squelettique.
Les hémarthroses représentent en effet les principales complications de cette maladie. A long terme, elles sont responsables d’une arthropathie chronique particulièrement invalidante. Outre l’administration de concentré de facteur de la coagulation généralement confiée à l’hématologue, la prise en charge des hémarthroses aiguës et surtout l’arthropathie chronique requièrent une étroite collaboration avec le chirurgien orthopédiste et/ou le physiothérapeute. Ce binôme entre le spécialiste du sang et de l’appareil locomoteur est indispensable pour prévenir efficacement les hémarthroses, gérer les épisodes aigus, apprécier l’état articulaire des patients hémophiles, et surtout traiter l’arthropathie chronique. Cet article se propose de fournir une revue pratique destinée aux hématologues, chirurgiens orthopédistes et physiothérapeutes abordant la physiopathologie, les manifestations cliniques et le traitement des hémarthroses et de l’arthropathie chronique liées à l’hémophilie.
Body structure versus body function in haemophilia: the case of haemophilic ankle arthropathy.
Body structure versus body function in haemophilia: the case of haemophilic ankle arthropathy.
Haemophilia (2011), 17(3):508-15.
Background: Imaging and clinical scores are the main tools used to evaluate the progression of haemophilic arthropathy (HA). Based on haemophilic ankle arthropathy, this study aimed to explore the concordances between structural and clinical alterations, determined by standard radiological and clinical scores, and functional alterations assessed by three-dimensional gait analysis (3DGA).
In total, 21 adult haemophilia patients underwent extensive ankle evaluation using the physical examination part of the World Federation of Haemophilia joint score, the Arnold-Hilgartner and the Pettersson radiological scores, and self-reported ankle function assessment using the revised Foot Function Index. Significant associations were found between self-reported ankle function assessment and the three 3DGA variables representative of joint function (range of motion, peak plantar flexion moment, and peak power generated at the push-off phase). Radiological and clinical scores were compared with ankle muscle peak power measurement, the most reliable 3DGA gait variable for ankle function. No significant associations were found between both clinical and functional scores and the 3DGA functional assessment. This discordance may be explained by the lack of a direct relationship between functional alterations detected by 3DGA and the structural changes assessed using X-ray or clinical scoring. Another explanation may be the limitation of clinical and radiological scoring systems in properly determining the severity of HA. Functional assessments such as 3DGA should be used more frequently when monitoring the progression of ankle arthropathy or the effects of therapeutic interventions in adult haemophilia patients.
Natural progression of blood-induced joint damage in patients with haemophilia: clinical relevance and reproducibility of three-dimensional gait analysis.
Lobet S, Detrembleur C, Francq B, Hermans C.
Haemophilia (2010), 16, 813-821.
A major complication in haemophilia is the destruction of joint cartilage because of recurrent intraarticular and intramuscular bleeds.
Therefore, joint assessment is critical to quantify the extent of joint damage, which has traditionally been evaluated using both radiological and clinical joint scores. Our study aimed to evaluate the natural progression of haemophilic arthopathy using three-dimensional gait analysis (3DGA) and to assess the reproducibility of this technique. We hypothesized that the musculoskeletal function was relatively stable in patients with haemophilia. Eighteen adults with established haemophilic arthropathies were evaluated twice by 3DGA (mean follow-up: 18 +/- 5 weeks). Unexpectedly, our findings revealed infraclinical deterioration of gait pattern, characterized by a 3.2% decrease in the recovery index, which is indicative of the subject’s ability to save energy while walking. A tendency towards modification of segmental joint function was also observed. Gait analysis was sufficiently reproducible with regards to spatiotemporal parameters as well as kinetic, mechanical and energetic gait variables. The kinematic variables were reproducible in both the sagittal and frontal planes. In conclusion, 3DGA is a reproducible tool to assess abnormal gait patterns and monitor natural disease progression in haemophilic patients.
Subclinical deep venous thrombosis observed in 10% of haemophilic patients undergoing major orthopaedic surgery.
Deep venous thrombosis (DVT) is a common postoperative complication in patients undergoing major orthopedic surgery of the lower limbs, such as total hip replacement, total knee replacement or hip fracture surgery.
Our findings show that subclinical DVT occurred in up to 10% of hemophilic patients undergoing major orthopedic surgery. Thrombotic events were distal and resolved spontaneously or with a short course of low-dose low-molecular-weight heparin, without any bleeding complications. Based on these findings, routine pharmacological thromboprophylaxis may not be indicated in all hemophilic patients undergoing major orthopedic surgery.
The role of physiotherapy after Total Knee Arthroplasty in patients with haemophilia.
Lobet S., Pendeville E., Dalzell R., Defalque A., Lambert C., Pothen C. and Hermans C.
Haemophilia. 2008, 14, 989-998.
With the availability of clotting factor concentrates, advances in surgical techniques, better implant design, and improvements in postoperative management, total knee arthroplasty has become the treatment of choice for haemophilia patients suffering from end-stage haemophilic knee arthropathy.
The success of this surgery is also dependent on close collaborations among the orthopaedic surgeon, the haematologist and the physiotherapist. Although haemophilic patients undergoing this surgery would likely benefit from a targeted rehabilitation programme, its specificities, modalities and limitations have thus far not been extensively studied. Employing the published data of rehabilitation after knee prosthesis in patients with osteoarthritis and haemophilic arthropathy along with clinical experience, the authors present a comprehensive and original review of the role of physiotherapy for patients with haemophilia undergoing knee arthroplasty.
Physiotherapy following elective orthopaedic procedures.
De Kleijn P, Blamey G, Zourikian N, Dalzell R and Lobet S.
Haemophilia 2006 Jul, 12, (suppl. 3), 108-112.
As haemophilic arthropathy and chronic synovitis are still the most important clinical features in people with haemophilia, different kinds of invasive and orthopaedic procedures have become more common during the last decades.
The availability of clotting factor has made arthroplasty of one, or even multiple joints possible. This article highlights the role of physiotherapy before and after such procedures. Synovectomies are sometimes advocated in people with haemophilia to stop repetitive cycles of intra-articular bleeds and/or chronic synovitis. The synovectomy itself, however, does not solve the muscle atrophy, loss of range of motion (ROM), instability and poor propriocepsis, often developed during many years. The key is in taking advantage of the subsequent, relatively safe, bleed-free period to address these important issues. Although the preoperative ROM is the most important variable influencing the postoperative ROM after total knee arthroplasty, there are a few key points that should be considered to improve the outcome. Early mobilization, either manual or by means of a continuous passive mobilization machine, can be an optimal solution during the very first postoperative days. Muscle isometric contractions and light open kinetic chain exercises should also be started in order to restore the quadriceps control. Partial weight bearing can be started shortly after, because of quadriceps inhibition and to avoid excessive swelling. The use of continuous clotting factor replacement permits earlier and intensive rehabilitation during the postoperative period. During the rehabilitation of shoulder arthroplasty restoring the function of the rotator cuff is of utmost importance. Often the rotator cuff muscles are inhibited in the presence of pain and loss of ROM. Physiotherapy also assists in improving pain and maintaining ROM and strength. Functional weight-bearing tasks, such as using the upper limbs to sit and stand, are often discouraged during the first 6 weeks postoperatively. This may be influenced by the condition of the joints of the lower limbs. Attention should be given to the total chain of motion, of which the shoulder itself is only a part. We conclude that physiotherapy management is of major importance in any invasive or orthopaedic procedure, regardless of which joints are involved. Both pre- and postoperative physiotherapy, as part of comprehensive care is needed to achieve optimal functional outcome and therefore optimal quality of life for people with haemophilia.
Outcome assessment in osteoarthritic patients undergoing total knee arthroplasty.
Dierick F, Avenière T, Cossement M, Poilvache P, Lobet S, Detrembleur C.
Acta Orthop Belg.2004 Feb;70(1):38-45.
The purpose of this study was to better understand the relationship between knee pain, locomotor functional status, and health-related quality of life (HRQoL) outcomes in osteoarthritic (OA) patients undergoing primary total knee arthroplasty (TKA).
Nine OA patients were recruited. Pain, locomotor function, and HRQoL were evaluated one day before and 6 months after TKA by means of a visual analogue scale (VAS) for knee pain, the function score of the Knee Society (KS), the metabolic cost of gait (C), the total mechanical work during gait (Wtot), and the Medical Outcomes Study Short Form-36 Health Survey (MOS SF-36). Our results showed a decrease in knee pain and metabolic cost of gait and an improvement in quality of life. Moreover we showed a relationship between: (1) the VAS score for knee pain, the function score of the KS, and MOS SF-36 Physical Functioning, Role-Physical, and Bodily Pain subscales; and (2) the C, the Wtot, and the MOS SF-36 Vitality subscale.
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