Patients can have variable phenotypes. A small percentage of female carriers may present with a mild phenotype. In its most severe phenotype, patients can present with spontaneous hemorrhage.
Rarely, hemophilic pseudotumors may result from destruction of bone at sites of repeated bleeding. They may cause swelling and restricted movement.
Left untreated, hemophilia A may be fatal (intracranial hemorrhage) or result in severe motor impairment or paralysis (chronic joint disease).
Hemophilia A is a lifelong condition with no known cure. Management focuses primarily on prevention and symptom control.
Related topic: hemophilia B
D66 – Hereditary factor VIII deficiency
28293008 – Hereditary factor VIII deficiency disease
- Vitamin K deficiency
- Glanzmann thrombasthenia
- Von Willebrand disease
- Hemophilia B (factor assay will differentiate)
- Clotting factor deficiencies (eg, factor 5, 7, 10, 11)
- Fibrinogen deficiency
- Scurvy – Bleeding is primarily mucosal.
- Disseminated intravascular coagulation (thrombocytopenia can differentiate)
- Child abuse
- Platelet dysfunction – Typically mucocutaneous hemorrhage, not musculoskeletal.
- Fabry disease – Typically mucosal hemorrhage.