Congenital factor XII deficiency
Congenital factor XII deficiency
Definition
Congenital factor XII deficiency is an 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.
Also known as congenital factor XII deficiency, congenital Hageman factor deficiency, Factor XII Deficiency, Hageman Factor deficiency — per MONDO