Overview
Definition
X-linked recessive bleeding disorder caused by Factor VIII deficiency.
Epidemiology
Affects 1 in 5,000 males.
Etiology & Risk Factors
- Mutation in the F8 gene
Clinical Symptoms
- Hemarthrosis (bleeding into joints)
- Prolonged bleeding after trauma/surgery
- Easy bruising
Clinical Approach
Diagnosis
- Prolonged aPTT
- Normal PT/Bleeding time
- Low Factor VIII assay
Management
- Recombinant Factor VIII replacement
- Emicizumab (monoclonal antibody)
- Desmopressin (DDAVP) for mild cases
Complications
- Joint destruction (hemophilic arthropathy)
- Intracranial hemorrhage
- Development of inhibitors (antibodies to Factor VIII)