Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation
ORPHA:178396· ICD-10 D68.8
Definition
A rare, genetic, constitutional coagulation factor defect disorder characterized by a bleeding tendancy of variable severity due to methionine 358 to arginine replacement (Pittsburgh mutation) in the alpha-1-antitrypsin protein. Patients present with spontaneous hematomas, hematomas following minor trauma or surgery and, in female patients, ovarian hematomas after ovulation.
- Prevalence
- <1 / 1 000 000
- Inheritance
- Autosomal dominant, Not applicable
- Age of onset
- Adolescent