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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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Overview

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

References

  1. Fibrinogen. Lab Tests Online. 2009; http://www.labtestsonline.org/understanding/analytes/fibrinogen/test.html. Accessed 12/9/2009.
  2. Mosesson MW. Hereditary Abnormalities of Fibrinogen. In: Beutler E, Lichtman M, Coller BS, Kipps TJ, Geligsohn U. Williams Hematology, 6th ed.. NY: McGraw-Hill; 2001;
  3. Brick W, Burgess R, Faguet GB. Dysfibrinogenemia. eMedicine. 2009; http://emedicine.medscape.com/article/199723-overview. Accessed 12/9/2009.
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In Depth Information

  • Medscape Reference provides information on this topic. Click on the link to view this information. You may need to register to view the medical textbook, but registration is free.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Dysfibrinogenemia. Click on the link to view a sample search on this topic.
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.