Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation

What is Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation?

Hemorrhagic disease due to alpha-1-antitrypsin Pittsburg mutation is 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.

Inheritance type

Autosomal dominant, Not applicable

Prevalence

  • Worldwide: <1 in 1,000 000

Age of Onset

  • Adolescent
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on "https://www.orphadata.com". Data version 1.3.16 / 4.1.7.