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.

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
	Dehydration	Lethargy	Musculoskeletal pain	Blood Pressure	Edema	Growth	Proteinuria	Aminoaciduria	Serum Phosphate	Serum [Na+]	Serum [K+]	Anion Gap	Serum PH	Urine PH	Urine [Ca2+]
Fanconi Syndrome	+	+	+	↓/N	-	↓	+	+	↓	↓/N	↓/N	N	↓	5.5↓	↑/N	Osteomalacia/Rickets
Proximal RTA	-	-/+	-/+	N	-	↓/N	-	-	N	N	↓/N	N	↓	5.5↓	N	High fractional HCO3- excretion
Distal RTA	-	-/+	-/+	N	-	↓↓/N	-	-	N	N	↓/N	N	↓	5.5↑	↑	Nephrplithiasis/ Osteomalacia/Rickets
RTA Type IV	-	-/+	-/+	N	-	N	-	-	N	↓ ↓	↑ ↑	N	↓	5.5↓	↓/N	Hyporeninemic Hypoaldosteronism
Nephrotic Syndrome	-/+	+	-	↑/N	+	↓	+	-	N	↓/N	N	↓↓/N	N	N	N	Hyperlipidemia
Gitelman syndrome	-	+	-/+	↓	-	N	-	-	↓	↓/N	↓	↑/N	↑	5.5↑	↓	Often asymptomatic
Bartter's syndrome	+	-/+	-/+	↓	-	↓	-	-	↓	↓/N	↓	↑/N	↑	5.5↑	↑	Nephrplithiasis/Rickets