Objective To investigate the bone health status and potential influencing factors of bone mineral density in adult patients with hemophilia, providing a reference for improving their bone health and for the prevention, treatment, and rehabilitation intervention of osteoporosis.

Methods This study is a retrospective analysis. Adult male patients with hemophilia A who visited the department of rehabilitation medicine at Peking Union Medical College Hospital from July 2022 to February 2024 were selected. Dual-energy X-ray absorptiometry (DXA) and high-resolution peripheral quantitative computed tomography (HR-pQCT) were used to assess the bone mineral density (BMD) of the patients. Anterolateral X-rays and Pettersson radiology scores were performed on the left ankle joint. Hemophilia Joint Health Score (HJHS) version 2.1 was used to calculate the HJHS score of the left ankle and evaluate the joint health status of the included patients. Serum bone metabolism indexes including total procollagen Ⅰ N-terminal propeptide (TP1NP) and C-terminal crosslinking β-isomerized carboxy-telopeptide of type Ⅰ collagen (β-CTX), and serum 25-(OH)D₃ were detected. The patients' body composition parameters were measured, including the body mass index(BMI)and the skeletal muscle mass index (SMI). The correlation analysis of BMD detection values and its possible influencing factors was carried out.

Results A total of 33 adult male patients with hemophilia A were selected, including 22 severe patients and 11 moderate patients, with an average age of 31.1±8.4 years. The hip BMD of the included patients was lower than the predicted value of age to varying degrees, and the minimum Z-value was -3.0. The Pettersson score of the left ankle was 7.75±0.94 and the HJHS score was 8.88±1.25. Elevated β-CTX occurred in 33.3% of patients. Serum 25-(OH)D₃ deficiency was found in 33.3% of patients. 45.5% of patients had insufficient 25-(OH)D₃. 21.2% of patients were obese and 42.4% were overweight. SMI values in 21.2% of patients met the diagnostic criteria for sarcopenia. There was a negative correlation between femoral neck and Wards triangle BMD and the HJHS score of left ankle (r=-0.814, P=0.014; r=-0.733, P=0.039). In addition, β-CTX was positively correlated with TP1NP (r=0.845, P=0.004).

Conclusions The hip BMD of adult hemophilia patients decreased.Joint dysfunction may be one of the factors associated with reduced bone density in patients with hemophilia. The increase in osteoclast activity may be accompanied by an increase in compensatory osteoblast activity.