Diagnosis of von Willebrand disease type 1: 616.15-07

Abstract

Von Willebrand disease is the most common hereditary coagulation disease. There are 3 main types of disease and several subtypes within the second type that are associated with a qualitative or quantitative deficiency of von Willebrand factor. It is statistically proven that up to 85% of diagnosed cases are type 1 von Willebrand disease. Despite the achieved successes in the diagnosis of this widespread disease, as well as the large number of available laboratory tests, objectification of von Willebrand disease is associated with significant difficulties. The classic manifestation of von Willebrand disease is mucocutaneous bleedings in a personal and family history that usually correlates with the disease severity. A standardized questionnaire is used to evaluate bleeding. Usually, an anamnesis data alone are not enough to prove the diagnosis, and therefore a series of laboratory tests are required. A number of routine tests for detection of hemostatic disorders have limitations and are not always specific. Today there are 3 basic tests for diagnosis of von Willebrand disease: von Willebrand factor antigen (VWF:Ag), factor VIII activity (FVIII:C), ristocytin cofactor activity (VWF:RCo). Some time ago, it was reported that the collagen-binding ability test of von Willebrand factor (VWF:CBA) can evaluate the adhesive activity of von Willebrand factor and its interaction with subendothelial collagen due to its unique structure. This technique was used as an alternative or additional test for VWF:RCo study. Over the past few years, it has become known that in some cases of von Willebrand disease VWF:CBA reacts faster than other coagulation factors. As well as VWF:CBA test genetic testing also is very popular because it is informative in some clinical situations, but not always, so its role has not been fully understood. It is expected that with further study of von Willebrand disease and the von Willebrand factor itself, next progress will happen in diagnosis and treatment of such unique phenomenon, discovered in 1926 by Eric von Willebrand.

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