Your browser does not support javascript:   Search for gard hereSearch for news-and-events here.

Diseases

Genetic and Rare Diseases Information Center (GARD)

Dysfibrinogenemia


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

Overview

Dysfibrinogenemia is a coagulation (clotting) disorder characterized by having an abnormal form of fibrinogen.[1] Fibrinogen is a protein produced by the liver which helps control bleeding by helping blood clots to form.[2] Having abnormal fibrinogen results in defective clot formation and can cause an increased or decreased ability to clot. Dysfibrinogenemias may be inherited (congenital) or acquired. Congenital dysfibrinogenemia is rare. About 40% of people with this form have no symptoms. About 50% have a bleeding disorder, and the remaining 10% have either a thrombotic disorder (excessive clotting) or both bleeding and thrombotic disorders.[3] Congenital dysfibrinogenemias may be caused by mutations in the FGA, FGB or FGG genes.[1] Inheritance is most often autosomal dominant or codominant, but can also be autosomal recessive.[3] Whether a person has no symptoms, a bleeding tendency, or an increased risk of thrombosis depends on the effect of their specific mutation(s).[4] Most people with dysfibrinogenemia have no symptoms and don't need treatment. For the remainder, treatment is individualized and depends on the symptoms and severity in each person.[1]

Acquired dysfibrinogenemia is more common than the congenital form and is associated with liver disease such as cirrhosis, liver tumors, or hepatitis.[1]
Last updated: 7/14/2016

References

  1. Caroline Bérubé. Disorders of fibrinogen. UpToDate. Waltham, MA: UpToDate; June, 2016;
  2. Yi-Bin Chen. Fibrinogen blood test. MedlinePlus. January 27, 2015; https://medlineplus.gov/ency/article/003650.htm.
  3. Russell Burgess. Dysfibrinogenemia. Medscape Reference. October 21, 2015; http://emedicine.medscape.com/article/199723-overview.
  4. Suchitra S Acharya. Inherited Abnormalities of Fibrinogen. Medscape Reference. November 8, 2014; http://emedicine.medscape.com/article/960677-overview.
GARD Video Tutorials
GARD Video Tutorials
Learn how to find information on treatment, research, specialists, and more.
Your Questions Answered
Your Questions Answered
View questions about this condition answered by GARD Information Specialists. You can also submit a new question.
On this page

In Depth Information

  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • 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. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • 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
  • Dysfibrinogenemia, familial
  • Congenital dysfibrinogenemia
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.