Hemophilia A differential diagnosis
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]Associate Editor(s)-in-Chief: Vahid Eidkhani, M.D. 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][7][8]
- Warfarin toxicity
- Liver disease
- Vitamin K deficiency
- Platelet disorders
| 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
- ↑ 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/
- ↑ Hathaway WE (1993) Vitamin K deficiency. Southeast Asian J Trop Med Public Health 24 Suppl 1 ():5-9. PMID: 7886607
- ↑ 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
- ↑ 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.
- ↑ Lechner K, Niessner H, Thaler E (1977) Coagulation abnormalities in liver disease. Semin Thromb Hemost 4 (1):40-56. PMID: 199944
- ↑ 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
- ↑ Giangrande P (2005) Haemophilia B: Christmas disease. Expert Opin Pharmacother 6 (9):1517-24. DOI:10.1517/14656566.6.9.1517 PMID: 16086639
- ↑ Deaton JG, Bhimji SS. Toxicity, Warfarin. [Updated 2017 May 23]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2018 Jan-.Available from: https://www.ncbi.nlm.nih.gov/books/NBK431112/