PB0287 - Successful Management of Recurrent Ankle Hemarthrosis in a Patient with Von Willebrand Disease Type 3 using Emicizumab: A Case Report

Background: Von Willebrand Disease (VWD) type 3 is a severe inherited bleeding disorder characterized by virtually absent von Willebrand factor.

Aims: To present a unique case of a 19-year-old male effectively managed with Emicizumab
To assess the impact of Emicizumab prophylaxis on altering bleeding patterns in VWD 3 and improving the quality of life

Methods: A retrospective chart review was conducted

Results: The patient's history involves a misdiagnosis of severe hemophilia A, intracranial hemorrhage, and the development of factor VIII inhibitors treated with immune tolerance therapy. Recurrent mucocutaneous bleeds, hemarthrosis, and a right ankle target joint significantly impacted the patient's quality of life. Genetic analysis confirmed a homozygous insertion mutation in the VWF gene. Laboratory investigations showed low levels of VWF antigen/VWF-activity, with factor VIII activity at 0.01 U/mL (Table 1). Prophylactic treatments with Humate-P and Wilate had limited efficacy, leading to a high treatment burden and arthropathy. Intravenous infusions negatively impacted the patient's quality of life. Transitioning to Emicizumab (1.5mg/kg weekly) 8 months ago resulted in a substantial reduction in annual factor concentrate consumption from 1,074,000 Units to 0. Emicizumab remarkably controlled bleeding, reducing the annualized bleeding rate from 3 to 1.3 and the annualized joint bleeding rate from 2 to 0 (Figure1) This allowed discontinuation of prophylaxis with Wilate. Before Emicizumab, ultrasounds following a left ankle bleed indicated hemarthrosis and hypertrophic synovium. Three months post-Emicizumab, ultrasound showed hematoma resolution and the absence of synovitis. A transient low-titer inhibitor reappeared, but the patient remains free from new joint bleeding, resumed physical activities with ankle bracing, and reported an enhanced quality of life

Conclusion(s): This case highlights successful utilization of Emicizumab in bleeding control, reducing treatment burden, and enhancing quality of life. Emicizumab proves to be a valuable therapeutic option. Further studies are needed to fully elucidate its role in managing VWD type 3