Utility of the Haemophilia Joint Health Score in study of episodically treated boys with severe haemophilia A and B in Lithuania

SummaryProphylaxis is the recommended treatment for children with severe haemophilia A, but whether prophylaxis should be continued in adulthood is still under debate. Previous studies with limited follow-up have suggested that some patients may be able to stop prophylaxis in adulthood, while maintaining good joint health. This single-centre observational cohort study examined patients with severe haemophilia A born 1970–1988 without inhibitor development, and assessed the long-term consequences of discontinuing prophylaxis. Patient-initiated changes in prophylaxis, including all switches to on-demand treatment lasting a minimum of two consecutive weeks, were recorded from the time self-infusion began until the last evaluation. Sixty-six patients were evaluated at a median age of 32.4 years: 26 of patients had stopped prophylaxis for a median of 10 years, 15 had interrupted prophylaxis and 59 had continued prophylaxis. Annual joint bleeding rate (AJBR), Haemophilia Joint Health Score (HJHS-2.1; 0–124 points), radiological Pettersson score (0–78 points) and Haemophilia Activities List score (HAL; 100–0 points) were compared between patients who stopped and patients who continued prophylaxis. Although self-reported bleeding rates and functional limitations were similar in both groups (AJBR: 1.5 vs 1.2 and HAL: 84 vs 84 for those who stopped and continued prophylaxis, respectively), objective assessment of joint status showed increased arthropathy after 10 years of on-demand treatment in patients who stopped prophylaxis compared with those who continued (HJHS: 23 vs. 14 and Pettersson: 16 vs 5, respectively; P< 0.01). These results support continuation of long-term prophylaxis in adults and demonstrate the need for objective monitoring of joint status.Trial registration: Dutch Trial Registry number 3098; UTN U1111–1121–7069.

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P107 Prevalence of haemarthrosis and clinical impact on the musculoskeletal system in people with haemophilia in the United Kingdom: evaluation of UKHCDO and haemtrack patient reported data

Rheumatology ◽

10.1093/rheumatology/keaa111.105 ◽

2020 ◽

Vol 59 (Supplement_2) ◽

Author(s):

Richard A Wilkins ◽

Heidi J Siddle ◽

Graham Chapman ◽

Anthony J Redmond ◽

Hau Xiang ◽

...

Keyword(s):

United Kingdom ◽

Ankle Joint ◽

Health Research ◽

Clotting Factor ◽

Haemophilia A ◽

Severe Haemophilia ◽

Research Support ◽

Haemophilia B ◽

The United Kingdom ◽

Joint Health

Abstract Background Haemarthrosis whereby bleeding occurs within a joint is a significant feature of haemophilia. Despite the availability of prophylaxis clotting factor concentrates in the United Kingdom haemarthrosis is associated with worsening joint health and haemarthropathy in people with severe haemophilia. The ankle joint has been identified as the most affected joint followed by the knee and elbow. Whilst annual joint bleed rates (AJBR) are commonly reported in haemophilia research, bleed rates in individual affected joints and joint health status in paediatric and adult patients is yet to be established. Methods In 2018, paediatric (<18 years) and adult (≥18 years) patients with severe non-inhibitor haemophilia A and B registered with the United Kingdom Haemophilia Centres Doctors Organisation (UKHCDO) National haemophilia Database (NHD) were evaluated for haemarthrosis prevalence and associated joint health. Fully itemised Haemophilia Joint Health Scores (HJHS) were obtained from NHD records in combination with AJBR from Haemtrack (HT) compliant patients. Haemarthrosis prevalence and AJBR were reported as a total and for individual joints (ankles, knees and elbows). Results During 2018, 2233 individuals were identified; 273 reported ≥75% simultaneous HT compliance and electronic fully itemised HJHS data. The median (range) age of children is 10 (6-14) years and adults 40 (25-51) years. The joint bleed prevalence of haemophilia A and B in children is 33% and 47% respectively, and in adults 42% and 60% respectively. In children with haemophilia A (n = 80) the knee (data) was the most common site of bleeding. In haemophilia A adults (n = 157) the ankle and elbow were equally affected. In haemophilia B children (n = 17) and adults (n = 19) the elbow was the most prevalent site. Total HJHS scores in children with haemophilia A and B were 0.00 (1.00 SD) and 0.40 (0.90 SD) respectively. Total HJHS scores in adults with haemophilia A and B were 21.20 (16.80 SD) and 15.40 (15.10 SD) respectively. Mean HJHS scores itemised by joint were higher in adults compared with children. In children with haemophilia A and haemophilia B, mean (3.80) and median (4.00) scores for the ankle joint were higher than for the knee (2.90 and 1.00) and elbow joint (3.30 and 1.00). Conclusion Whilst there are limitations to this self-select subset of individuals with severe haemophilia, the prevalence of haemarthrosis is evenly distributed in all adult joints with a trend towards the knee in paediatrics. Despite prophylaxis 30% of children and 60% adults still reported bleeding over a 12-month period. Irrespective of the prevalence of joint bleeds in children with haemophilia the HJHS does not appear to be clinically sensitive enough to detect changes in joint health. Adults deemed adherent with prophylaxis and haemtrack still demonstrate worsening HJHS scores despite a low AJBR. Disclosures R.A. Wilkins Grants/research support; Funded by the National Institute for Health Research. H.J. Siddle Grants/research support; Funded by the National Institute for Health Research. G. Chapman None. A.J. Redmond None. H. Xiang None. M. Scott None. M. Richards None. L. Horn None. B. Palmer None. D. Stephensen None.

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Musculoskeletal Pathologies in Children with Haemophilia Evaluated using a Standardised Physical Joint Scoring System to Assess Disability

European Oncology & Haematology ◽

10.17925/eoh.2011.07.01.76 ◽

2011 ◽

Vol 07 (01) ◽

pp. 76 ◽

Cited By ~ 1

Author(s):

Sonata Saulyte Trakymiene ◽

Keyword(s):

Treatment Efficacy ◽

Scoring System ◽

Joint Damage ◽

Joint Disease ◽

Severe Haemophilia ◽

International Consensus ◽

Health Score ◽

Haemophilic Arthropathy ◽

Joint Health ◽

Joint Assessment

Repeated bleeding into the joints leads to the development of chronic and progressive joint disease in 90% of people with severe haemophilia. Owing to recurrent haemarthroses, musculoskeletal outcome remains an important hallmark of treatment efficacy in haemophilia. Physical joint assessment is commonly used to measure structural and functional joint damage. With the development and introduction of prophylaxis, the most widely used instruments for the assessment of haemophilic arthropathy were found to lack sensitivity to detect the earliest signs of joint disease. To address these inadequacies, a new international consensus tool, the Haemophilia Joint Health Score (HJHS), was developed. The HJHS appears to be a sensitive, reliable and valid tool. However, the HJHS needs further evaluation in various patient populations to assess its applicability and usefulness.

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The effects of manual therapy on musculoskeletal system, functional level, joint health and kinesiophobia in young adults with severe haemophilia: A randomized pilot study

Haemophilia ◽

10.1111/hae.14031 ◽

2021 ◽

Author(s):

Necati Muhammed Tat ◽

Filiz Can ◽

Hatice Ilgen Sasmaz ◽

Ayse Merve Tat ◽

Ali Bulent Antmen

Keyword(s):

Young Adults ◽

Pilot Study ◽

Manual Therapy ◽

Musculoskeletal System ◽

Haemophilia A ◽

Severe Haemophilia ◽

Functional Level ◽

Joint Health

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Faculty Opinions recommendation of Improved joint health in subjects with severe haemophilia A treated prophylactically with recombinant factor VIII Fc fusion protein.

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature ◽

10.3410/f.732291460.793544799 ◽

2018 ◽

Author(s):

Valder Arruda ◽

Ben Samelson-Jones

Keyword(s):

Fusion Protein ◽

Factor Viii ◽

Recombinant Factor Viii ◽

Haemophilia A ◽

Severe Haemophilia ◽

Fc Fusion Protein ◽

Joint Health

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Prevalence of Haemarthrosis and Clinical Impact on The Musculoskeletal System in People With Haemophilia in The United Kingdom; Evaluation of UK National Haemophilia Database and Haemtrack Patient Reported Data.

10.21203/rs.3.rs-111806/v1 ◽

2020 ◽

Author(s):

Richard Wilkins ◽

David Stephensen ◽

Heidi Siddle ◽

Martin Scott ◽

Hua Xiang ◽

...

Keyword(s):

Health Status ◽

Genetic Disorder ◽

Haemophilia A ◽

Severe Haemophilia ◽

The United Kingdom ◽

Patient Reported ◽

Joint Health ◽

Bleeding Manifestation ◽

Reported Data ◽

A Current

Abstract Introduction; Severe haemophilia is a rare x-linked recessive genetic disorder characterised by bleeding into soft tissue and joints. Haemarthrosis is the most common bleeding manifestation in haemophilia, leading to haemarthropathy. The ankle joint has been reported as the most common site of bleeding, but it is unclear whether the ankle is most affected in terms of joint health status. Aims; To determine the prevalence of joint bleeding and musculoskeletal health status at an individual joint level of children and adults with severe haemophilia A and B without a current inhibitor.Methods; Application was made to the National Haemophilia Database (NHD) with a request for the following; Haemtrack patient reported treatment record and Haemophilia Joint Health Scores (HJHS) in children (<18y) and adults (≥18y) with severe haemophilia A (HA) and B (HB) (FVIII/FIX, <0.01 iu/ml) without a current inhibitor. Data were collated and reported for 1st January to 31st December 2018.Results; 2238 cases were identified, of which 273 were Haemtrack compliant with contemporaneous HJHS. The median (IQR) age of children was 10 (6-13) and adults 40 (29-50) years. Haemarthrosis prevalence in HA/HB children was 33% and 47%, respectively and 60% and 42%, respectively, in adults. The most common haemarthrosis site in children was the knee in HA and ankle in HB. In adults, the incidence of haemarthrosis at the ankles and elbows was equal. Median (IQR) total HJHS in HA/HB children were 0 (0;0). In adults with HA/HB, HJHS were 18 (6; 31) and 11 (5; 24), respectively. In adults with HA/HB, mean (SD) ankle HJHS of 3.8 (4.1) and median 4.0 (0.0; 8.0) were higher than the knee (mean 2.9 (4.1) and median 1.0 (0.0; 5.0) and elbow (mean 3.3 (4.1) and median 1.0 (0.0; 7.0) joints.Conclusion; During 2018, NHD prevalence data of haemarthrosis indicate only two-thirds of children and one-third of adults from a UK cohort compliant with prophylaxis were bleed free. HJHS of zero in children suggests joint health status is either unaffected during childhood or undetected by HJHS. In adults, higher HJHS are reported for the ankles indicating worse joint health.

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