Comparative evaluation of joint health in adult patients with severe hemophilia A and B

Aim: Hemophilia A (HA) and Hemophilia B (HB) are rare inherited bleeding disorders caused by deficiencies of FVIII and FIX, respectively. These deficiencies predominantly result in joint bleeds. Hemophilic arthropathy is the most important long-term morbidity in severe cases. Regular prophylactic factor replacement is essential for preserving joint health. However, published data on the frequency and severity of joint bleeds in severe HA versus HB remain inconsistent. In this study, we compared bleeding frequency, factor consumption and joint health in adult severe HA and HB patients. Material and Method: A total of 45 adult severe hemophilia patients (30 HA, 15 HB, factor level <1%) followed at Cerrahpaşa Medical Faculty were included. Demographic data, annual bleeding rate, annual factor consumption, joint surgery history and comorbidities were extracted from patient records. Joint health was assessed by HJHS and HEAD-US. Of 244 joints assessed, 26 were excluded due to prosthesis or contracture. Physical activity was evaluated with IPAQ. Statistical analyses were performed using SPSS v25.0, p<0.05 considered significant. Ethical approval was obtained from Istanbul University-Cerrahpaşa Clinical Research Ethics Committee (08.10.2024, no:1114422). Results: Median age was 35 years (IQR 29.5–41), median BMI was 25.6 kg/m². Ninety-three percent were on prophylaxis and 7% on-demand. Annual bleed rate was 3.5 [2–24] in HA and 2 [0–12] in HB (p=0.052). HJHS scores were 21.2±13 in HA and 30±18.7 in HB (p=0.115). HEAD-US scores were 12±6.1 and 16.5±15 (p=0.437). No joint-based difference was found (all p>0.05). HEAD-US and HJHS were strongly correlated in all patients (ρ=0.652, p<0.001), in HA (r=0.641, p=0.003) and HB (r=0.703, p=0.011). HEAD-US correlated with age (r=0.607, p<0.001) and disease duration (r=0.490, p=0.005). Scores were higher in patients with HBV (p=0.017) and HCV (p=0.030). Conclusion: No statistically significant differences were observed between patients with severe HA and HB in terms of joint scores, factor consumption, or bleeding frequency. These findings underscore the need for equally vigilant monitoring and management of severe HB patients. The strong correlation between HJHS and HEAD-US supports the use of ultrasound as a valuable adjunct to clinical examination for early detection of joint damage. Additionally, the higher rate of physical inactivity observed in the HA group highlights the importance of lifestyle interventions and exercise in maintaining joint health. Keywords: Hemophilia A, Hemophilia B, Hemophilic Arthropathy, Arthropathy, Ultrasonography