Hemophilia differential diagnosis

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Sabawoon Mirwais, M.B.B.S, M.D.[2]Simrat Sarai, M.D. [3]Vahid Eidkhani, M.D.Fahd Yunus, M.D. [4]

Overview

Hemophilia must be differentiated from other diseases leading to spontaneous bleeding and bleeding following injuries or surgery such as von Willebrand disease, hepatic failure, thrombocytopenia, vitamin K deficiency, disseminated intravascular coagulation, uremia, congenital afibrinogenemia, factor V deficiency, factor X deficiency as seen in amyloid purpura, glanzmann's thrombasthenia, Bernard-Soulier syndrome, factor XII deficiency and C1-inhibitor (C1INH) deficiency.

Differentiating Hemophilia from other Diseases

Hemophilia must be differentiated from other diseases leading to spontaneous bleeding and bleeding following injuries or surgery such as:

The most important differential diagnoses are enlisted in the table below:[24][25][26][27][28][29][30]

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

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