Unmet needs in hemophilic arthropathy

Abstract

Hemophilia A and B are rare X-linked bleeding disorders caused by coagulation factor deficiencies, leading to joint bleeding, synovial hypertrophy and chronic hemophilic arthropathy marked by progressive cartilage and bone damage. Musculoskeletal issues remain the primary source of morbidity in people with hemophilia (PwH). Despite significant advances in prophylactic therapies, joint pain, functional limitations, and deterioration persist. The long-term impact of novel treatments on joint health and physical activity levels remains incompletely understood. Early detection and prevention of damage is challenging, highlighting the need for highly sensitive diagnostic tools to identify subclinical changes before irreversible damage occurs. Pain management, currently adapted from other conditions, does not fully meet the unique needs of PwH. Research into targeted pain relief, synovial hypertrophy management, and cartilage regeneration is crucial. Addressing unmet needs in diagnosis, treatment, and management requires collaboration between clinical and research communities to improve care effectiveness and enhance the quality of life for PwH.

Keywords: Bleeding; Diagnosis; Joint; Pain; Physiotherapy; Surgery.