Inherited abnormalities of coagulation: hemophilia, von Willebrand disease, and beyond

Abstract

Bleeding disorders are broadly classified into primary and secondary hemostatic defects. Primary hemostatic disorders (disorders of platelets and von Willebrand factor) mainly result in mucocutaneous bleeding symptoms such as epistaxis, menorrhagia, petechiae, easy bruising, and bleeding after dental and surgical interventions. Secondary hemostatic disorders (congenital or acquired deficiencies of coagulation factors) typically manifest with delayed, deep bleeding into muscles and joints. This article provides a generalized overview of the pathophysiology, clinical manifestations, laboratory abnormalities, and molecular basis of inherited abnormalities of coagulation with a focus on hemophilia, von Willebrand disease, and rare inherited coagulation disorders.

Keywords: Hemophilia; Hemostasis; Rare factor deficiency; von Willebrand disease.