What is it about?
von Willebrand disease (VWD) is the most common autosomal bleeding disorder, mostly inherited as dominant trait. VWD is due to deficiency/abnormality of von Willebrand factor (VWF). The true prevalence of VWD is unknown, but estimated as 0.1% to 1% of the general population.
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Why is it important?
The wide heterogeneity of clinical symptoms and laboratory data from possible type 1 VWD implies a risk for bleeding that becomes crucial in challenging situations. In our population, type 2M was found to be more frequent than the type 2A variant. DDAVP challenge test, VWF propeptide/antigen ratio and genotypic studies are useful tools for discriminating cases representing difficult diagnoses such as type 2M versus type 1C VWD. Elevated propeptide ratio,the detection of antiphospholipid antibodies, platelet-associated antibodies or anti-VWF immunoglobulins and negative genotypic screening is useful to discriminate inherited VWD from AVWS. Genotypic testing assisted discrimination between types 2B versus platelet-type-VWD and type 2N VWD versus mild hemophilia A.
Perspectives
Elevated propeptide ratio, the detection of antiphospholipid antibodies, platelet-associated antibodies or anti-VWF immunoglobulins and negative genotypic screening is useful to discriminate inherited VWD from AVWS. Genotypic testing assisted discrimination between types 2B versus platelet-type-VWD, and type 2N VWD versus mild hemophilia A.
Dr. Adriana Ines Woods
IMEX-CONICET-National Academy of Medicine, Buenos Aires
Type 2M VWD is commonly misdiagnosed as type 1 VWD. On the other hand, both PT-VWD and type 2B VWD may also be misdiagnosed as idiopathic thrombocytopenia. For these reasons, the real type 2M, type 2B and PT-VWD incidences are unknown and might be higher than currently known.
Adriana Woods
Intituto de Medicina Experimental- CONICET- Academia Nacional de Medicina
Read the Original
This page is a summary of: Diagnosis of von Willebrand disease in Argentina: a single institution experience, Annals of Blood, December 2012, AME Publishing Company,
DOI: 10.21037/aob.2017.12.04.
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