Dysfibrinogenemia

Overview

Type of disease: Rare conditions

Dysfibrinogenemia is a rare coagulation disorder caused by a mutation in the gene controlling the production of fibrinogen in the liver. It causes the liver to make an abnormal fibrinogen, one that resists degradation when converted to fibrin.  Dysfibrinogenemia may increase a person’s risk of venous thrombosis or rarely cause a mild bleeding tendency. PT, PTT, and Thrombin Time tests are used to screen for this condition, which is then confirmed with additional specialized blood tests. Patients with dysfibrinogenemia may experience poor wound healing. Hereditary transmission is autosomal dominant or codominant except in a few cases that appear to be transmitted recessively. Source: Genetic and Rare Diseases Information Center (GARD), supported by ORDR-NCATS and NHGRI.

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