The occurrence and impact of joint bleeds in Von Willebrand disease

Background: Von Willebrand disease (VWD) is a heterogeneous inherited bleeding disorder that affects up to 1% of the population. Joint bleeds are not predominant, but have been reported to occur in 8-45% of patients with VWD, especially in those with a more severe phenotype. Joint bleeds can lead to structural joint damage. The most severe type 3 VWD patients develop similar rates of joint range of motion limitation over time as moderate hemophilia A patients. However, the severity, onset and impact of joint bleeds and its complications in VWD patients are largely unknown. Aims: The aim of this study is to assess the incidence, onset and treatment of joint bleeds and its impact on quality of life and joint integrity in moderate and severe VWD. Methods: In the Willebrand in the Netherlands (WIN) study 804 moderate and severe VWD patients (VWF activity ≤30U/dL) completed a comprehensive questionnaire after giving informed consent. We quantified joint bleed occurrence as reported in the questionnaires and examined the medical files for documentation on joint bleeds and joint problems from all patients who had reported treatment for joint bleeds with desmopressin or clotting factor concentrate (CFC) and from as many patients without joint bleeds for comparison, matched for gender, age, FVIII and VWF activity. Results: Twenty three percent of the patients (184/804) self-reported joint bleeds in the questionnaire, mostly in the knee, followed by the ankle and elbow. These patients had more severe VWD (type 3 VWD 12% vs. 4%, p50% in 14/16 VWD patients with joint bleeds who started CFC prophylaxis. We found documented X-ray joint damage in 44% of the patients with joint bleeds compared to 11% of the controls (p