Hemophilia A differential diagnosis

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]Associate Editor(s)-in-Chief: Fahd Yunus, M.D. [2]

Overview

Hemophilia must be differentiated from other diseases that cause abnormal or excessive bleeding.[1]

Differentiating Hemophilia A from other Diseases

The most important differential diagnosis of Hemophilia A is that of hemophilia B (also known as Christmas disease) or von Willebrand disease (the most common hereditary clotting disorder). The former is usually considered if factor VIII levels are normal in a person with a hemophilia phenotype. The latter is excluded on routine testing for that condition.

Differential Diagnosis

Other diseases which should be considered in the differential include:[2][3][4][5][6]

Diseases Clinical manifestations Para-clinical findings Additional findings
Symptoms Physical examination
Lab Findings
Joint Bleeding Gastrointestinal bleeding Genitourinary Bleeding Skin Bruises Skeletal deformity Muscle hematoma CBC PT PTT BT Factor VIII Factor IX Fibrinogen U/A:RBC S/E:RBC
Hemophilia A + + + + + + N N N N N + + -/+Family history
Hemophilia B + + + + + + N N N N N + + -/+Family history
von Willebrand disease -/+ -/+ -/+ -/+ -/+ -/+ N N ↑/N ↓/N N N -/+ -/+ -/+Family history
Vitamin K deficiency -/+ + -/+ + - -/+ N ↑/N N N N + + Mostly in Infants/GI disorders
Warfarin Toxicity -/+ + -/+ + - -/+ N ↑/N N N N + + +Drug history
Platelets disorders - -/+ -/+ + - - ↓Plt N N N N N -/+ -/+ Cause-based Specific findings
Liver Failure - + + -/+ - -/+ ↓Plt/N ↑/N ↑/N ↑/N -/+ + Neurological findings/Ascitis

References

  1. Konkle BA, Josephson NC, Nakaya Fletcher S. Hemophilia A. 2000 Sep 21 [Updated 2014 Jun 5]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016. Available from: http://www-ncbi-nlm-nih-gov.laneproxy.stanford.edu/books/NBK1404/
  2. Hathaway WE (1993) Vitamin K deficiency. Southeast Asian J Trop Med Public Health 24 Suppl 1 ():5-9. PMID: 7886607
  3. Santagostino E, Fasulo MR (2013) Hemophilia a and hemophilia B: different types of diseases? Semin Thromb Hemost 39 (7):697-701. DOI:10.1055/s-0033-1353996 PMID: 24014073
  4. Israels SJ (2015). "Laboratory testing for platelet function disorders". Int J Lab Hematol. 37 Suppl 1: 18–24. doi:10.1111/ijlh.12346. PMID 25976956.
  5. Lechner K, Niessner H, Thaler E (1977) Coagulation abnormalities in liver disease. Semin Thromb Hemost 4 (1):40-56. PMID: 199944
  6. Buga-Corbu I, Arion C (2014) Up to date concepts about Von Willebrand disease and the diagnose of this hemostatic disorder. J Med Life 7 (3):327-34. PMID: 25408749

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