Skip navigation

Congenital afibrinogenemia

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

Causes

This rare disease is caused by an abnormal gene that must be passed down from both parents. It causes a severe lack of fibrinogen.

Milder forms can occur in people who inherit only one abnormal gene from their parents. (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 from the umbilical cord just after birth
  • Bleeding in joints
  • Excessive bleeding after injury or surgery
  • Nosebleeds

Exams and Tests

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

Tests include:

  • Bleeding 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:

  • Cryoprecipitate (a blood product containing concentrated fibrinogen and other clotting factors) through a vein (transfusion)
  • Fibrinogen (RiaSTAP)
  • Plasma (the liquid portion of the blood containing clotting factors)

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

Outlook (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.

Possible 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
  • Miscarriage

When to Contact a Medical Professional

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

Gailani D, Neff AT. Rare coagulation factor deficiencies. In: Hoffman R, Benz EJ Jr., Shattil SJ, et al, eds. Hoffman Hematology: Basic Principles and Practice. 5th ed. Philadelphia, Pa: Churchill Livingstone Elsevier; 2008:chap 127.

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: 2/28/2011

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 Quality Logo

A.D.A.M., Inc. is accredited by URAC, also known as the American Accreditation HealthCare Commission (www.urac.org). URAC's accreditation program is an independent audit to verify that A.D.A.M. follows rigorous standards of quality and accountability. A.D.A.M. is among the first to achieve this important distinction for online health information and services. Learn more about A.D.A.M.'s editorial policy, editorial process and privacy policy. A.D.A.M. is also a founding member of Hi-Ethics and subscribes to the principles of the Health on the Net Foundation (www.hon.ch).

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 1997-2014, A.D.A.M., Inc. Duplication for commercial use must be authorized in writing by ADAM Health Solutions.

A.D.A.M Logo