Von Willebrand disease differential diagnosis
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Overview
vWD must be differentiated from platelet disorders, thrombophilias, and hemophilias based on genetic disoder, clinical presentation, laboratory findings and treatment.
Von Willebrand disease differential diagnosis
vWD must be differentiated from platelet disorders, thrombophilias, and hemophilias as shown below:
| 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.