Download PDF
Hamostaseologie
DOI: 10.1055/a-2575-1475
Review Article

Evidence in Haemophilia Assessment: The Haemophilia Joint Health Score

Lukas Graf 
1   Centre for Laboratory Medicine, Haemostasis and Haemophilia Centre, St. Gallen, Switzerland
› Author Affiliations
› Further Information
Also available at
    Permissions and Reprints

Abstract

Haemophilia is a rare genetic bleeding disorder that primarily affects males and results in the deficiency of clotting factors VIII (haemophilia A) or IX (haemophilia B). One of the most debilitating long-term complications of haemophilia is chronic joint damage with pain, and reduced mobility, due to bleeding into the joints. As the primary cause of morbidity in people with haemophilia (PwH), joint health assessment is critical for disease management and optimizing patient outcomes. Among the tools developed to monitor joint health in PwH, the Haemophilia Joint Health Score (HJHS) has emerged as the most widely used and validated clinical tool. There is evidence supporting the use of the HJHS in both children and adults. In contrast to scoring methods that incorporate imaging techniques, which primarily describe the morphology of the joints, the HJHS allows for the assessment and monitoring of joint functionality.

Keywords

haemophilia - joint health - score


Publication History

Received: 27 October 2024

Accepted: 03 April 2025

Article published online:
23 May 2025

© 2025. Thieme. All rights reserved.

Georg Thieme Verlag KG
Oswald-Hesse-Straße 50, 70469 Stuttgart, Germany

 

  • References

  • 1 Gualtierotti R, Solimeno LP, Peyvandi F. Hemophilic arthropathy: current knowledge and future perspectives. J Thromb Haemost 2021; 19 (09) 2112-2121
    Search in Google Scholar
  • 2 Mancuso ME, McLaughlin P, Forsyth AL, Valentino LA. Joint health and pain in the changing hemophilia treatment landscape. Expert Rev Hematol 2024; 17 (08) 431-444
    Search in Google Scholar
  • 3 Boehlen F, Graf L, Berntorp E. Outcome measures in haemophilia: a systematic review. Eur J Haematol Suppl 2014; 76: 2-15
    Search in Google Scholar
  • 4 Hilliard P, Funk S, Zourikian N. et al. Hemophilia joint health score reliability study. Haemophilia 2006; 12 (05) 518-525
    Search in Google Scholar
  • 5 Poonnoose PM, van der Net J. Musculoskeletal outcome in hemophilia: bleeds, joint structure and function, activity, and health-related fitness. Semin Thromb Hemost 2015; 41 (08) 872-879
    Search in Google Scholar
  • 6 St-Louis J, Abad A, Funk S. et al. The Hemophilia Joint Health Score version 2.1 Validation in Adult Patients Study: a multicenter international study. Res Pract Thromb Haemost 2022; 6 (02) e12690
    Search in Google Scholar
  • 7 Feldman BM, Funk SM, Bergstrom BM. et al. Validation of a new pediatric joint scoring system from the International Hemophilia Prophylaxis Study Group: validity of the hemophilia joint health score. Arthritis Care Res (Hoboken) 2011; 63 (02) 223-230
    Search in Google Scholar
  • 8 IPSG. Hemophilia Joint Health Score Toolkit. Internet. Accessed 29 March 2025 at: https://ipsg.ca/portal/resources/english-canada
  • 9 Bladen M, Main E, Hubert N, Koutoumanou E, Liesner R, Khair K. Factors affecting the Haemophilia Joint Health Score in children with severe haemophilia. Haemophilia 2013; 19 (04) 626-631
    Search in Google Scholar
  • 10 Poonnoose PM, Hilliard P, Doria AS. et al. Correlating clinical and radiological assessment of joints in haemophilia: results of a cross sectional study. Haemophilia 2016; 22 (06) 925-933
    Search in Google Scholar
  • 11 Doria AS, Zhang N, Lundin B. et al. Quantitative versus semiquantitative MR imaging of cartilage in blood-induced arthritic ankles: preliminary findings. Pediatr Radiol 2014; 44 (05) 576-586
    Search in Google Scholar
  • 12 Saulyte Trakymiene S, Clausen N, Poulsen LH, Ingerslev J, Rageliene L. Progression of haemophilic arthropathy in children: a Lithuanian–Danish comparative study. Haemophilia 2013; 19 (02) 212-218
    Search in Google Scholar
  • 13 Kuijlaars IAR, Timmer MA, de Kleijn P, Pisters MF, Fischer K. Monitoring joint health in haemophilia: factors associated with deterioration. Haemophilia 2017; 23 (06) 934-940
    Search in Google Scholar
  • 14 Zhao L, Yang H, Li Y. et al. Joint status and related risk factors in patients with severe hemophilia A: a single-center cross-sectional study. Hematology 2022; 27 (01) 80-87
    Search in Google Scholar
  • 15 Arvanitakis A, Jepsen C, Andersson NG, Baghaei F, Astermark J. Primary prophylaxis implementation and long-term joint outcomes in Swedish haemophilia A patients. Haemophilia 2024; 30 (03) 671-677
    Search in Google Scholar
  • 16 Fang Y, Guo Y, Qin T, Luan Y, Zhang C. The correlation between the HEAD-US-C score and HJHS in hemophilic arthropathy of the knee. J Ultrasound Med 2023; 42 (04) 859-868
    Search in Google Scholar
  • 17 Knobe K, Berntorp E. Haemophilia and joint disease: pathophysiology, evaluation, and management. J Comorb 2011; 1: 51-59
    Search in Google Scholar
  • 18 R CB, A TO, S PA, et al. Using the Hemophilia Joint Health Score for assessment of children: reliability of the Spanish version. Physiother Theory Pract 2019; 35 (04) 341-347
    Search in Google Scholar
  • 19 Ribeiro T, Abad A, Feldman BM. Developing a new scoring scheme for the Hemophilia Joint Health Score 2.1. Res Pract Thromb Haemost 2019; 3 (03) 405-411
    Search in Google Scholar
  • 20 Zwagemaker AF, Kloosterman FR, Hemke R. et al. Joint status of patients with nonsevere hemophilia A. J Thromb Haemost 2022; 20 (05) 1126-1137
    Search in Google Scholar
  • 21 Daffunchio C, Galatro G, Faurlin V, Neme D, Caviglia H. The hidden joint in children with haemophilia on prophylaxis. Thromb Res 2023; 226: 86-92
    Search in Google Scholar
  • 22 Gualtierotti R, Giachi A, Truma A. et al. Assessing joint health in haemophilia patients: the combined value of physical examination and ultrasound imaging. Haemophilia 2024; 30 (04) 1018-1024
    Search in Google Scholar
  • 23 Plut D, Kotnik BF, Pusnik L, Slak P, Snoj Z, Salapura V. Reliability of haemophilia early arthropathy detection with ultrasound (HEAD-US) in children: a comparative magnetic resonance imaging (MRI) study. Radiol Oncol 2022; 56 (04) 471-478
    Search in Google Scholar
  • 24 Li Y, Wang F, Pan C. et al. Comparison of joint status using ultrasound assessments and Haemophilia Joint Health Score 2.1 in children with haemophilia. Front Med (Lausanne) 2023; 10: 1193830
    Search in Google Scholar
  • 25 Doria AS, Keshava SN, Mohanta A. et al. Diagnostic accuracy of ultrasound for assessment of hemophilic arthropathy: MRI correlation. AJR Am J Roentgenol 2015; 204 (03) W336-47
    Search in Google Scholar
  • 26 Nijdam A, Bladen M, Hubert N. et al. Using routine Haemophilia Joint Health Score for international comparisons of haemophilia outcome: standardization is needed. Haemophilia 2016; 22 (01) 142-147
    Search in Google Scholar
  • 27 George C, Parikh S, Carter T. et al. Haemophilia joint health score (HJHS) usage, patterns and outcome data in patients with haemophilia A and haemophilia B in Australia: a descriptive study using the Australian Bleeding Disorders Registry (ABDR). Haemophilia 2023; 29 (04) 1135-1141
    Search in Google Scholar
  • 28 Ay C, Mancuso ME, Matino D, Strike K, Pasta G. The haemophilia joint health score for the assessment of joint health in patients with haemophilia. Haemophilia 2024; 30 (06) 1265-1271
    Search in Google Scholar
  • 29 Huang J, Zhu H, Lv S, Tong P, Xun L, Zhang S. Inflammation, angiogenesis and sensory nerve sprouting in the synovium of bony ankylosed and not bony ankylosed knees with end-stage haemophilic arthropathy. Haemophilia 2021; 27 (04) 657-665
    Search in Google Scholar
  • 30 Nogami K, Shima M. Current and future therapies for haemophilia—beyond factor replacement therapies. Br J Haematol 2023; 200 (01) 23-34
    Search in Google Scholar
  • 31 Gualtierotti R, Giachi A, Suffritti C. et al. Optimizing long-term joint health in the treatment of hemophilia. Expert Rev Hematol 2024; 17 (10) 713-721
    Search in Google Scholar