Diagnosis of von Willebrand disease in Argentina: a single institution experience
von Willebrand disease (VWD) is the most common autosomal bleeding disorder, mostlyinherited as dominant trait. VWD is due to deficiency/abnormality of von Willebrand factor (VWF). Thetrue prevalence of VWD is unknown, but estimated as 0.1% to 1% of the general population. The bleeding score (BS) wa...
| Authors: | , , , , , |
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| Format: | article |
| Status: | Published version |
| Publication Date: | 2017 |
| Country: | Argentina |
| Institution: | Consejo Nacional de Investigaciones Científicas y Técnicas |
| Repository: | CONICET Digital (CONICET) |
| Language: | English |
| OAI Identifier: | oai:ri.conicet.gov.ar:11336/45265 |
| Online Access: | http://hdl.handle.net/11336/45265 |
| Access Level: | Open access |
| Keyword: | DESMOPRESSIN PHENOTYPE GENOTYPE VON WILLEBRAND DISEASE https://purl.org/becyt/ford/3.2 https://purl.org/becyt/ford/3 |
| Summary: | von Willebrand disease (VWD) is the most common autosomal bleeding disorder, mostlyinherited as dominant trait. VWD is due to deficiency/abnormality of von Willebrand factor (VWF). Thetrue prevalence of VWD is unknown, but estimated as 0.1% to 1% of the general population. The bleeding score (BS) was used to evaluate the bleeding status of patients presenting atour institution. Laboratory analyses include: VWF:Ag, VWF:RCo, VWF:CB, multimeric pattern, VWFpropeptide, Desmopressin challenge test. Genotypic analysis comprises the study of specific exons of VWF,depending on the suspected variant. |
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