Medical Encyclopedia

 

Medical Encyclopedia

Other encyclopedia topics:  A-Ag  Ah-Ap  Aq-Az  B-Bk  Bl-Bz  C-Cg  Ch-Co  Cp-Cz  D-Di  Dj-Dz  E-Ep  Eq-Ez  F  G  H-Hf  Hg-Hz  I-In  Io-Iz  J  K  L-Ln  Lo-Lz  M-Mf  Mg-Mz  N  O  P-Pl  Pm-Pz  Q  R  S-Sh  Si-Sp  Sq-Sz  T-Tn  To-Tz  U  V  W  X  Y  Z  0-9 

Congenital afibrinogenemia

Contents of this page:

Definition    Return to top

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    Return to top

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    Return to top

Exams and Tests    Return to top

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:

All of these tests are abnormal in afibrinogenemia.

Treatment    Return to top

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

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

Outlook (Prognosis)    Return to top

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.

Possible Complications    Return to top

When to Contact a Medical Professional    Return to top

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    Return to top

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    Return to top

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

Update Date: 3/2/2009

Updated 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.

A.D.A.M. Logo

The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed physician should be consulted for diagnosis and treatment of any and all medical conditions. Call 911 for all medical emergencies. Links to other sites are provided for information only -- they do not constitute endorsements of those other sites. Copyright 1997-2009, A.D.A.M., Inc. Any duplication or distribution of the information contained herein is strictly prohibited.