Autosomal dominant condition associated with mild to moderate mucocutaneous bleeding caused by gain-of-function mutation in the megakaryocyte/platelet-specific gene encoding GPIbα, leading to increased affinity to von Willebrand factor, removal of high-molecular-weight von Willebrand factor from the circulation, and thrombocytopenia. Often confused with type 2B VWD, a disorder in which gain-of-function variants of VWF are responsible for increased GPIbα-vWF binding.
Oct
15
2021