MedlinePlus Medical Encyclopedia: Congenital afibrinogenemia

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Congenital afibrinogenemia

Contents of this page:
Definition Causes, incidence, and risk factors Symptoms Signs and tests Treatment	Expectations (prognosis) Complications Calling your health care provider Prevention

Definition

Congenital afibrinogenemia is a rare, inherited blood disorder in which the blood does not clot normally due to a lack of or a malfunction involving fibrinogen, a protein necessary for coagulation.

Causes, incidence, and risk factors

This rare disease is caused by an autosomal recessive gene, which requires inheritance of the abnormal gene from both parents. There may be either a complete lack of fibrinogen or a defect in the functioning of available fibrinogen. This condition can occur in both sexes. The main risk factor is a family history of bleeding disorders.

Symptoms

Bruising
Nosebleeds
Excessive bleeding following injury or surgery
Gastrointestinal bleeding
Bleeding in joints
Miscarriage

Signs and tests

If a bleeding disorder is suspected, laboratory tests are performed to determine the type and extent. This disorder usually shows up in childhood, often at birth.

Tests include:

PTT
Prothrombin time (PT)
Clotting time
Fibrinogen levels
Thrombin time
Reptilase time
Bleeding time

All of these tests are abnormal in afibrinogenemia.

Treatment

Patients may be transfused with plasma (the liquid portion of the blood) or cryoprecipitate (a blood product containing concentrated fibrinogen) to treat bleeding episodes or in preparation for surgery needed to treat other conditions. People with this condition should be immunized with the hepatitis B vaccine because of the increased risk of developing hepatitis due to transfusion.

Expectations (prognosis)

Significant bleeding is common with this condition and these episodes may be severe, even fatal. Bleeding in the brain is a leading cause of death in patients with this disorder.

Complications

Bleeding from the umbilical cord
Bleeding from the mucous membranes
Gastrointestinal bleeding
Intracranial bleeding
Clotting with treatment
Development of antibodies (inhibitors) to fibrinogen with treatment

Calling your health care provider

Call your health care provider or seek emergency care if excessive bleeding occurs.

Notify your surgeon before you have surgery if you know or suspect you have a blood disorder.

Prevention

There is no known prevention. Couples in which at least one partner has this condition may find genetic counseling helpful if they are considering having children.

Update Date: 8/18/2003

Updated by: Corey Cutler, M.D., M.P.H., F.R.C.P.C., Department of Medical Oncology, Dana-Farber Cancer Institute; Instructor in Medicine, Harvard University, Boston, MA. Review provided by VeriMed Healthcare Network.

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