Congenital factor XII deficiency
ORPHA:330· ICD-10 D68.2
Definition
A rare, autosomal recessive systemic dysfunction of the hemostatic pathway, that is due to a defect in the coagulation factor XII (FXII or Hageman factor), and is either asymptomatic or characterized by a prolonged activated partial thromboplastin time and an increased risk for thromboembolism. FXII deficiency is strongly associated with primary recurrent abortions.
- Prevalence
- Unknown
- Inheritance
- Autosomal recessive
- Age of onset
- All ages