Congenital fibrinogen deficiency
Afibrinogenemia; Hypofibrinogenemia; Dysfibrinogenemia; Factor I deficiencyCongenital fibrinogen deficiency is a very rare, inherited blood disorder in which the blood does not clot normally. It affects a protein called fibrinogen. This protein is needed for the blood to clot.
Causes
This disease is due to a deficiency of the amount or function of fibrinogen. How fibrinogen is affected depends on how the genes that determine how it is formed are inherited:
- When the abnormal gene is passed down from both parents, a person will have a complete lack of fibrinogen (afibrinogenemia).
- When the abnormal gene is passed down from one parent, a person will have either a reduced level of fibrinogen (hypofibrinogenemia) or a problem with the function of fibrinogen (dysfibrinogenemia). Sometimes, these two fibrinogen problems can occur in the same person.
Symptoms
People with a complete lack of fibrinogen may have any of the following bleeding symptoms:
-
Bruising easily
Bruising
A bruise is an area of skin discoloration. A bruise occurs when small blood vessels break and leak their contents into the soft tissue beneath the s...
Read Article Now Book Mark Article - Bleeding from the umbilical cord just after birth
- Bleeding in the mucous membranes
- Bleeding in the brain (very rare)
- Bleeding in the joints
- Heavy bleeding after injury or surgery
- Nosebleeds that do not stop easily
People with a reduced level of fibrinogen bleed less often and the bleeding is not as severe when compared to people with no fibrinogen at all. Those with a problem with the function of fibrinogen often don't have symptoms.
Exams and Tests
If your health care provider suspects this problem, you will have lab tests to confirm the type and severity of the disorder.
Tests include:
-
Bleeding time
Bleeding time
Bleeding time is a medical test that measures how fast small blood vessels in the skin stop bleeding. Because it is difficult to perform correctly, i...
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Fibrinogen test and reptilase time to check fibrin level and quality
Fibrinogen test
Fibrinogen is a protein produced by the liver. This protein helps stop bleeding by helping blood clots to form. A blood test can be done to tell ho...
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Partial thromboplastin time (PTT)
Partial thromboplastin time
Partial thromboplastin time (PTT) is a blood test that looks at how long it takes for blood to clot. It can help tell if you have a bleeding problem...
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Prothrombin time (PT)
Prothrombin time
Prothrombin time (PT) is a blood test that measures the time it takes for the liquid portion (plasma) of your blood to clot. It measures the functio...
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Treatment
The following treatments can be used for bleeding episodes or to prepare for surgery:
- Cryoprecipitate (a blood product containing concentrated fibrinogen and other clotting factors)
- Fibrinogen (RiaSTAP)
- Plasma (the liquid portion of the blood containing clotting factors)
People with this condition should get the hepatitis B vaccine. Having many transfusions raises your risk of getting hepatitis.
Hepatitis B vaccine
All content below is taken in its entirety from the CDC Hepatitis B Vaccine Information Statement (VIS): www. cdc. gov/vaccines/hcp/vis/vis-statement...
Read Article Now Book Mark ArticleOutlook (Prognosis)
Excessive bleeding is common with this condition. These episodes may be severe, or even fatal. Bleeding in the brain is a leading cause of death in people with this disorder.
Possible Complications
Complications may include:
- Blood clots with treatment
- Development of antibodies (inhibitors) to fibrinogen with treatment
-
Gastrointestinal bleeding
Gastrointestinal bleeding
Gastrointestinal (GI) bleeding refers to any bleeding that starts in the gastrointestinal tract. Bleeding may come from any site along the GI tract, ...
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Miscarriage
Miscarriage
A miscarriage is the spontaneous loss of a fetus before the 20th week of pregnancy. Pregnancy losses after the 20th week are called stillbirths. Mi...
Read Article Now Book Mark Article - Rupture of the spleen
- Slow healing of wounds
When to Contact a Medical Professional
Contact your provider or seek emergency care if you have excessive bleeding.
Tell your surgeon before you have surgery if you know or suspect you have a bleeding disorder.
Prevention
This is an inherited condition. There is no known prevention.
References
Gailani D, Benjamin TF, Wheeler AP. Rare coagulation factor deficiencies. In: Hoffman R, Benz EJ, Silberstein LE, et al, eds. Hematology: Basic Principles and Practice. 8th ed. Philadelphia, PA: Elsevier; 2023:chap 135.
Ragni MV. Hemorrhagic disorders: coagulation factor deficiencies. In: Goldman L, Schafer AI, eds. Goldman-Cecil Medicine. 26th ed. Philadelphia, PA: Elsevier; 2020:chap 165.
Review Date: 2/2/2023
Reviewed By: Mark Levin, MD, Hematologist and Oncologist, Monsey, NY. Review provided by VeriMed Healthcare Network. Also reviewed by David C. Dugdale, MD, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team.