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.

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:

• 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