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Congenital afibrinogenemia

Definition:

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:

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 .



Support Groups:



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.



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.




Review Date: 3/2/2009
Reviewed By: 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.

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