Type 3 Von Willebrand Disease in Ethiopia: A Comprehensive Literature Review and Report of the First Two 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 two patients diagnosed with type 3 VWD in Ethiopia. Both patients presented with episodes of frequent epistaxis, easy bruising, and prolonged bleeding from minor injuries. Laboratory assays also identified severe anemia, prolonged aPTT, absent VWF, and significantly reduced clotting factor (F)VIII in both cases. A diagnosis of Type 3 VWD was confirmed in these patients after genetic testing identified a pathogenic mutation consistent with the disorder. The patients are currently managed with frequent fresh frozen plasma, cryoprecipitate, and platelet infusions due to the unavailability of VWF replacement therapy in the country. Thorough assessment, accurate diagnosis, and proper classification of VWD are crucial because they will significantly impact 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.