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Congenital afibrinogenemia - All Information

Definition of Congenital afibrinogenemia:

Congenital afibrinogenemia is a rare, inherited blood disorder in which the blood does not clot normally. It occurs when there is a lack (deficiency) of a protein called fibrinogen, which is needed for the blood to clot.

Causes, incidence, and risk factors:

This rare disease is caused by an abnormal gene that must be passed down from both parents. It causes a severe lack of fibrinogen. (Dysfibrinogenemia, in which there is a defect in fibrinogen function, is a different condition.)

Congenital afibrinogenemia can occur in males or females. The main risk factor is a family history of bleeding disorders.

Symptoms:

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

Signs and tests:

If the health care provider suspects a bleeding disorder, laboratory tests can determine the type and extent. This disorder usually shows up in childhood, often at birth.

Tests include:

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

All of these tests are abnormal in afibrinogenemia.

Treatment:

To treat bleeding episodes or to prepare for surgery to treat other conditions, patients may receive:

The liquid portion of the blood (plasma)
A blood product containing concentrated fibrinogen (cryoprecipitate) through a vein (transfusion)

People with this condition should have the hepatitis B vaccine because transfusion increases the risk of hepatitis.

Expectations (prognosis):

Excess 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 patients with this disorder.

Complications:

Bleeding from the umbilical cord
Bleeding from the mucus membranes
Bleeding in the brain (intracranial bleeding)
Clotting with treatment
Development of antibodies (inhibitors) to fibrinogen with treatment
Gastrointestinal bleeding

Calling your health care provider:

Call your health care 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:

There is no known prevention. Couples who are thinking about having children may find genetic counseling helpful if at least one partner has this condition.

Reviewed last on: 3/2/2009
David C. Dugdale, III, MD, Professor of Medicine, Division of General Medicine, Department of Medicine, University of Washington School of Medicine; and Yi-Bin Chen, MD, Leukemia/Bone Marrow Transplant Program, Massachusetts General Hospital. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.

References

Kessler C. Hemorrhagic disorders: Coagulation factor deficiencies. In: Goldman L, Ausiello D, eds. Cecil Medicine. 23rd ed. Philadelphia, Pa: Saunders Elsevier; 2007:chap 180.

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