Congenital afibrinogenemia

Definition of Congenital afibrinogenemia

Congenital afibrinogenemia is a rare, inherited blood disorder in which the blood does not 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.)

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.

Treatment

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

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.

Review

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. – 3/2/2009

ADAM Medical Encyclopedia

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