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Genetic and Rare Diseases Information Center (GARD)

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Dysfibrinogenemia


Other Names for this Disease

  • Congenital dysfibrinogenemia
  • Dysfibrinogenemia, familial
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Your Question

How many people are affected by dysfibrinogenemia?

Our Answer

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What is dysfibrinogenemia?

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.[1][2] 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.[1] Hereditary transmission is autosomal dominant or codominant except in a few cases that appear to be transmitted recessively.[3]
Last updated: 12/9/2009

How many people are affected by dysfibrinogenemia?

Inherited dysfibrinogenemia in the general population is rare, but determination of the true incidence is difficult because many patients are asymptomatic.[4] Reported numbers indicate that approximately 300 families have congenital dysfibrinogenemia.[2][3] About 25% of reported cases have a history of bleeding, about 20% have shown a tendency toward thrombosis (clotting) and the remainder of are clinically asymptomatic.[2]


 

Last updated: 12/9/2009

References
Other Names for this Disease
  • Congenital dysfibrinogenemia
  • Dysfibrinogenemia, familial
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.