Presentation and Management of Type 2 von Willebrand Disease
| Autor: | Dominder Kaur, Sarah H. O'Brien |
|---|---|
| Rok vydání: | 2020 |
| Předmět: |
congenital
hereditary and neonatal diseases and abnormalities medicine.diagnostic_test Platelet aggregation biology business.industry Mucocutaneous zone medicine.disease chemistry.chemical_compound chemistry Von Willebrand factor hemic and lymphatic diseases Immunology Von Willebrand disease medicine biology.protein Angiodysplasia business Ristocetin Desmopressin Genetic testing medicine.drug |
| Zdroj: | Pediatric Bleeding Disorders ISBN: 9783030316600 |
| Popis: | Type 2 von Willebrand disease (VWD) is caused by qualitative defects of von Willebrand factor (VWF). It is further divided into four subtypes (2A, 2B, 2M, 2N), based on underlying defect. The bleeding symptoms are primarily mucocutaneous for subtypes 2A, 2B, and 2M. In type 2N, factor VIII (FVIII) binding is the underlying defect, and hence deeper tissue bleeding may also be seen. Diagnosis is complex, and an algorithmic approach is ideal. Beyond VW activity, antigen levels, and their ratio, advanced evaluations like multimer testing, ristocetin-induced platelet aggregation, genetic testing, and FVIII and collagen binding assays may be needed for correct diagnosis. Management varies based on disease subtype: factor replacement and antifibrinolytics can be used in all four, while desmopressin/DDAVP is helpful only in types 2A and 2 M. |
| Databáze: | OpenAIRE |
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