Type 3 von Willebrand disease in Ethiopia: a comprehensive literature review and report of the first three cases

Type 3 von Willebrand disease (VWD) is the rarest and most severe form of VWD, resulting from a complete loss of function of the von Willebrand factor (VWF). This disease presents bleeding symptoms that are characteristic of primary hemostasis disorders and hemophilia-like bleeding. We present a case series of the first three patients diagnosed with type 3 VWD in Ethiopia. All three patients presented with episodes of frequent epistaxis, easy bruising, and prolonged bleeding from minor injuries. Comprehensive laboratory evaluation revealed severe anemia, markedly prolonged activated partial thromboplastin time (aPTT), complete absence of VWF, and profoundly decreased clotting factor VIII (FVIII) activity in all patients, thereby establishing the diagnosis of type 3 VWD. Patients are currently managed with frequent fresh frozen plasma, cryoprecipitate, and tranexamic acid (TXA) due to the unavailability of VWF replacement therapy in the country. For treatment response, clinical follow-up with serial aPTT monitoring was performed. Under this supportive regimen, both the frequency of mucosal bleeding episodes and the need for fresh frozen plasma (FFP) and cryoprecipitate transfusions have decreased, with transfusions required at intervals of approximately every 3-4 weeks. Thorough assessment, accurate diagnosis, and proper classification of VWD are crucial because they significantly affect patient management and treatment modalities. Type 3 VWD is often underdiagnosed and undertreated in developing countries because of the lack of available diagnostic laboratory investigations and VWF-containing concentrates.