Von Willebrand Disease: Range of the Disease, and Management

Von Willebrand disease is the most common autosomal inherited bleeding disorder. It is caused by quantitative or qualitative defects of the von Willebrand factor. The International Society of Thrombosis and Hemostasis recognizes three types of Von Willebrand disease, with four qualitative subtypes, i.e. six different groups in total. All variants present with mucocutaneous bleeding of variable severity depending on the penetrance of the disease, the level of von Willebrand factor (VWF), and the specific abnormality of the defect, resulting in altered VWF interactions between either platelets and collagen or factor VIII. Diagnosis is difficult because the clinical and laboratory phenotypes are very heterogeneous and may overlap for normal subjects. The molecular pathology of the condition corresponds to the specific variants but has a wide range of genetic mechanisms. Accurate diagnosis of the disorder is of critical importance to establish appropriate treatment options for individual patients. This review covers the pathophysiology and genetics of the condition, the diagnostic classification, testing, and the available treatments, specifically highlighting the population. © 2013, Springer Science + Business Media New York.