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 A must be differentiated from other diseases that cause abnormal or excessive bleeding.[1]
Differentiating Hemophilia A from other Diseases
The most important differential diagnosis is that of hemophilia B (also known as Christmas disease) or von Willebrand disease. 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:
- Warfarin toxicity
- Liver disease
- Vitamin K deficiency
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 | + | + | |
Hemophilia B | + | + | + | + | + | + | N | N | ↑ | N | N | ↓ | N | + | + | |
von Willebrand disease | -/+ | -/+ | -/+ | -/+ | -/+ | -/+ | N | N | ↑/N | ↑ | ↓/N | N | N | -/+ | -/+ | |
Vitamin K deficiency | -/+ | + | -/+ | + | - | -/+ | N | ↑ | ↑/N | N | N | ↓ | N | + | + | |
Warfarin Toxicity | -/+ | + | -/+ | + | - | -/+ | N | ↑ | ↑/N | N | N | ↓ | N | + | + | |
Platelets disorders | - | -/+ | -/+ | + | - | - | ↓Plt | N | N | ↑ | N | N | N | -/+ | -/+ | |
Liver Failure | - | + | + | -/+ | - | -/+ | ↓Plt/N | ↑ | ↑ | ↑/N | ↑/N | ↓ | ↑/N | -/+ | + |
References
- ↑ 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/