Von Willebrand disease differential diagnosis
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Overview
Von Willebrand disease differential diagnosis
| Variable | vWD | Thrombophilia | Hemophilia | Platelet disorder |
|---|---|---|---|---|
| Genetics | Mostly autosomal dominant and rarely recessive | Mostly by mutation in the F5 gene (at position 1691) and prothrombin G20210A | X-linked recessive | Variable depending of type |
| Presentation | Children mostly present with symptoms of bruising and epistaxis.[1]Adults present with bleeding after surgery, mucosa-associated bleeding, heavy menstrual periods and postpartum hemorrhage. Severe internal or joint bleeding is rare (which only occurs in type 3 vWD). [2] | Manifests as deep vein thrombosis or pulmonary embolism with sudden-onset shortness of breath, chest pain, palpitations | Deep tissue bleeding into joint spaces | Superficial bleeding |
| Platelet count | Normal | Normal | Normal | Low |
| Clotting factor 8 or 9 | Low to normal factor 8 | factor IX is increase[3] | Decreased factor VIII or IX | Normal |
| vWF | Dcreased | Increased[4] | Normal | Normal |
| Prothrobin time | Normal | Normal | Normal | Normal |
| aPTT | Prolonged | Normal | Increased | Normal |
| Treatment | Desmopressin or vWF or factor VIII concentrates | Variable depending on the cause | Factor VIII or IX concentrate | Depends on type |
References
- ↑ Sanders YV, Fijnvandraat K, Boender J, Mauser-Bunschoten EP, van der Bom JG, de Meris J; et al. (2015). "Bleeding spectrum in children with moderate or severe von Willebrand disease: Relevance of pediatric-specific bleeding". Am J Hematol. 90 (12): 1142–8. doi:10.1002/ajh.24195. PMID 26375306.
- ↑ de Wee EM, Sanders YV, Mauser-Bunschoten EP, van der Bom JG, Degenaar-Dujardin ME, Eikenboom J; et al. (2012). "Determinants of bleeding phenotype in adult patients with moderate or severe von Willebrand disease". Thromb Haemost. 108 (4): 683–92. doi:10.1160/TH12-04-0244. PMID 22918553.
- ↑ Simioni P, Tormene D, Tognin G, Gavasso S, Bulato C, Iacobelli NP; et al. (2009). "X-linked thrombophilia with a mutant factor IX (factor IX Padua)". N Engl J Med. 361 (17): 1671–5. doi:10.1056/NEJMoa0904377. PMID 19846852.
- ↑ Smith NL, Chen MH, Dehghan A, Strachan DP, Basu S, Soranzo N; et al. (2010). "Novel associations of multiple genetic loci with plasma levels of factor VII, factor VIII, and von Willebrand factor: The CHARGE (Cohorts for Heart and Aging Research in Genome Epidemiology) Consortium". Circulation. 121 (12): 1382–92. doi:10.1161/CIRCULATIONAHA.109.869156. PMC 2861278. PMID 20231535.