Congenital afibrinogenemia

Definition:

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. The 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.

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 may occur with treatment
patients may develop 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. Genetic counseling may be helpful for couples in which at least one partner has this condition considering childbearing.

Review Date: 10/21/2001
Reviewed By: Rebecca Elstrom, M.D., Division of Hematology-Oncology, University of Pennsylvania Medical Center, Philadelphia, PA. Review provided by VeriMed Healthcare Network.

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