Hematology, Transfusion and Cell Therapy (Oct 2024)

PEOPLE WITH MILD HEMOPHILIA ARE AT RISK OF JOINT DISEASE: THE NATIONWIDE COHORT HIN-6 STUDY

  • RM Camelo,
  • C Smit,
  • J Eikenboom,
  • F Rosendaal,
  • LFD van Vulpen,
  • EAM Beckers,
  • L Hooimeijer,
  • M Coppens,
  • SEM Schols,
  • FWG Leebeek,
  • MH Driessens,
  • JGVD Bom,
  • SM Rezende,
  • SC Gouw

Journal volume & issue
Vol. 46
pp. S561 – S562

Abstract

Read online

Clinical data on people with mild hemophilia (mPwH) is important to guide their treatment but remains scarce worldwide. In addition, since modern hemophilia therapies can turn severe phenotypes into mild or normal ones, knowing the clinical, therapeutical, and outcomes data of mPwH becomes essential as a proxy of these treatments. We described mPwH who participated in the 6th version of the Hemophilia in the Netherlands (HiN-6) cross-sectional nationwide study. Male mPwH (lowest plasmatic factor activity 5.1%‒40.0%) answered a questionnaire about their disease, treatment, and outcomes, in 2019. Questionnaires were elaborated according to age: younger than 12-years (children and responded by their parents/caregivers), between 12- and 17.9-years (adolescents), and 18-years or older (adults). A total of 387 mPwH responded to the questionnaires. Their median (Interquartile Range; IQR) age was 49.0-years (26.0‒62.0), 340 (87.8%) were adults, 29 (7.5%) had past or current inhibitors, 197 (50.9%) had ever been treated with any clotting product, and 12 (3.1%) were currently on prophylaxis. Approximately 74% reported they perceived their disease was not serious or not serious at all, and the different activity groups responded similarly. Recent bleed at any site was reported by 24/47 (51.1%) non-adults, related to the previous quarter, and 96/340 (28.2%) adults, related to the previous year. Joint impairment was reported for 180 joints (22 perceived as severe) by 50/387 (12.9%) mPwH. Age at first hemarthrosis was 10.0 years [5.0‒16.0] among 97 (25%) mPwH. Lifetime hospitalization due to joint surgery was reported by 31/358 (8.7%) mPwH. The analyses of PROMIS29 and RAND-26 (quality of life), and HAL (functional abilities) indicated good quality of life and functional abilities. mPwH who participated in the HiN-6 Study reported good social functioning and a non-impactant disease in their lives, although bleeds, joint impairment, and need for joint surgeries still occur.