National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Dysfibrinogenemia


Other Names:
Dysfibrinogenemia, familial; Congenital dysfibrinogenemia; Familial dysfibrinogenemia
Categories:
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

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Epistaxis
Bloody nose
Frequent nosebleeds
Nose bleed
Nose bleeding
Nosebleed
[ more ] 		0000421
Gastrointestinal hemorrhage
Gastrointestinal bleeding
0002239
Gingival bleeding
Bleeding gums
0000225
30%-79% of people have these symptoms
Venous thrombosis
Blood clot in vein
0004936
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Last updated: 7/1/2020
Congenital dysfibrinogenemia is considered rare, but the true incidence is unknown since many forms don't cause signs or symptoms.[1] In the literature, only 200-300 families have been reported.[3]

Approximately 50% of patients with severe liver disease have bleeding tendencies secondary to abnormal fibrinogen (acquired dysfibrinogenemia).[3]
Last updated: 7/14/2016

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

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.

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question

  • Can dysfibrinogenemia go away as you get older? After a recent blood test, I was told I no longer have this rare blood disease. See answer

  • How many people are affected by dysfibrinogenemia? See answer


  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.