Von Willebrand disease differential diagnosis: Difference between revisions

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==Von Willebrand disease differential diagnosis==
==Von Willebrand disease differential diagnosis==
{| class="wikitable"
!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.<ref name="pmid26375306">{{cite journal| author=Sanders YV, Fijnvandraat K, Boender J, Mauser-Bunschoten EP, van der Bom JG, de Meris J et al.| title=Bleeding spectrum in children with moderate or severe von Willebrand disease: Relevance of pediatric-specific bleeding. | journal=Am J Hematol | year= 2015 | volume= 90 | issue= 12 | pages= 1142-8 | pmid=26375306 | doi=10.1002/ajh.24195 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=26375306  }}</ref>Adults present with bleeding after surgery, mucosa-associated bleeding, [[menorrhagia|heavy menstrual periods]] and [[postpartum hemorrhage|postpartum hemorrhage]]. Severe [[internal bleeding|internal]] or [[hemarthrosis|joint bleeding]] is rare (which only occurs in type 3 vWD). <ref name="pmid22918553">{{cite journal| author=de Wee EM, Sanders YV, Mauser-Bunschoten EP, van der Bom JG, Degenaar-Dujardin ME, Eikenboom J et al.| title=Determinants of bleeding phenotype in adult patients with moderate or severe von Willebrand disease. | journal=Thromb Haemost | year= 2012 | volume= 108 | issue= 4 | pages= 683-92 | pmid=22918553 | doi=10.1160/TH12-04-0244 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=22918553  }}</ref>
|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<ref name="pmid19846852">{{cite journal| author=Simioni P, Tormene D, Tognin G, Gavasso S, Bulato C, Iacobelli NP et al.| title=X-linked thrombophilia with a mutant factor IX (factor IX Padua). | journal=N Engl J Med | year= 2009 | volume= 361 | issue= 17 | pages= 1671-5 | pmid=19846852 | doi=10.1056/NEJMoa0904377 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=19846852  }}</ref>
|Decreased factor VIII or IX
|Normal
|-
|vWF
|Dcreased
|Increased<ref name="pmid20231535">{{cite journal| author=Smith NL, Chen MH, Dehghan A, Strachan DP, Basu S, Soranzo N et al.| title=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. | journal=Circulation | year= 2010 | volume= 121 | issue= 12 | pages= 1382-92 | pmid=20231535 | doi=10.1161/CIRCULATIONAHA.109.869156 | pmc=2861278 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=20231535  }}</ref>
|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==
==References==

Revision as of 19:57, 28 December 2016


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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

  1. ↑ 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.
  2. ↑ 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.
  3. ↑ 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.
  4. ↑ 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.

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