Key result
von Willebrand disease is an autosomal inherited bleeding disorder diagnosed through clinical history and specific laboratory evaluations including vWF antigen, ristocetin cofactor, and factor VIII activity.
The diagnosis of von Willebrand disease requires a combination of clinical bleeding history and specific laboratory evaluations including vWF antigen, vWF activity, and factor VIII activity.
von Willebrand disease (vWD) is an autosomal inherited bleeding disorder caused by a deficiency or abnormality of von Willebrandfactor (vWF). vWF is a large multimeric glycoprotein that mediates platelet adhesion at the site of vessel injury. It also protects factorVIII from proteolytic degradation in the circulation. vWD has a prevalence of about 1% in the general population but less than 10%have bleeding symptoms. Bleeding symptoms are usually mucocutaneous and post surgical with varying severity. This disorder canresult from either a quantitative (types 1 and 3) or qualitative (type 2) defect in vWF. Type 2 vWD has been further classified into fourdistinct subtypes; 2A, 2B, 2M and 2N. The diagnosis of vWD requires attention to personal and family history of excessive bleeding andconfirmation by laboratory evaluation. A mild chronic thrombocytopenia is often seen in type 2B vWD. Patients with mild vWD oftenhave both a normal bleeding time and normal APTT. Specific tests for vWD diagnosis involve vWF antigen level, vWF activity (ristocetincofactor), and factor VIII activity. Once a diagnosis is established, additional tests that aid in classifying the type of vWD includeristocetin-induced platelet aggregation and vWF multimer analysis.
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Sindunata et al. (2018) conducted a review in von Willebrand disease. von Willebrand disease is an autosomal inherited bleeding disorder diagnosed through clinical history and specific laboratory evaluations including vWF antigen, ristocetin cofactor, and factor VIII activity.
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