Catalog

Hereditary factor XII deficiency

No MMS code

Link to WHO Definition

Hereditary factor XII deficiency – http://id.who.int/icd/entity/2086126201

Congenital factor XII deficiency is a systemic dysfunction of the haemostatic pathway, inherited in an autosomal recessive manner and caused by a defect in the coagulation factor XII (FXII or Hageman factor). Affected individuals are either asymptomatic or present a prolonged activated partial thromboplastin time and have an increased risk for thromboembolism (such as development of ocular vascular complications, occurring particularly in younger people). Superficial migratory thrombophlebitis and leg ulcer are rarely observed. FXII deficiency usually does not lead to bleeding complications but is strongly associated with primary recurrent abortions.