Ultrasound Assessment of Joint Health in Patients With Mild Hemophilia (Factor Levels 5-40%)

Overview

Currently, few recommendations exist for patients with mild hemophilia, who represent approximately 60% of the hemophilia population. This study aims to provide objective data on joint health in these patients, which are currently limited compared to those with moderate or severe hemophilia. The use of joint ultrasound in mild hemophilia could allow early, asymptomatic detection of joint damage, support tailored management including patient education, and ultimately improve quality of life. The study will also explore the correlation between coagulation factor levels (FVIII or FIX) and other indicators of joint health in France.

Hemophilia is an inherited bleeding disorder caused by a deficiency of factor VIII (hemophilia A) or factor IX (hemophilia B), predominantly affecting males, although female carriers can also be symptomatic, often in a milder form. The incidence of hemophilia is similar worldwide, with hemophilia A occurring in approximately 1 in 5,000 births and hemophilia B in 1 in 25,000 births. In France, over 8,000 patients with hemophilia A and 2,000 patients with hemophilia B have been reported, with approximately one-third presenting with severe disease, over 10% with moderate disease, and 60% with mild disease. Severe hemophilia is associated with frequent and potentially serious bleeding, including joint bleeding, which can lead to progressive and irreversible hemophilic arthropathy. Optimized hemostatic treatments and early detection strategies, such as joint ultrasound, have markedly improved outcomes in severe cases. However, little is known about joint health in patients with mild hemophilia. Although bleeds are less frequent and rarely spontaneous in these patients, they remain at risk of developing arthropathy, including from asymptomatic micro-bleeds. This study aims to provide objective data on joint health in mild hemophilia patients in France and to explore potential correlations between coagulation factor levels (FVIII or FIX) and other indicators of joint involvement. The results are expected to improve understanding of joint disease in this population and may help guide future preventive and therapeutic strategies.