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Congenital afibrinogenemia

Congenital afibrinogenemia is a rare inherited blood disorder in which the blood does not clot normally due to a lack of or a malfunction involving fibrinogen, a protein necessary for coagulation.

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Fibrinogen test
From Gale Encyclopedia of Medicine, 4/6/01 by Janis O. Flores

Definition

Fibrinogen (Factor I) is a protein that originates in the liver. It is converted to fibrin during the blood-clotting process (coagulation).

Purpose

The fibrinogen test aids in the diagnosis of suspected clotting or bleeding disorders caused by fibrinogen abnormalities.

Precautions

This test is not recommended for patients with active bleeding, acute infection or illness, or in those patients who have received blood transfusions within four weeks.

Drugs that may increase fibrinogen levels include estrogens and oral contraceptives. Drugs that may cause decreased levels include anabolic steroids, androgens, phenobarbital, urokinase, streptokinase, and valproic acid.

Description

Fibrinogen plays two essential roles in the body: it is a protein called an acute-phase reactant that becomes elevated with tissue inflammation or tissue destruction, and it is also a vital part of the "common pathway" of the coagulation process.

In order for blood to clot, fibrinogen must be converted to fibrin by the action of an enzyme called thrombin. Fibrin molecules clump together to form long filaments, which trap blood cells to form a solid clot.

The conversion of fibrinogen to fibrin is the last step of the "coagulation cascade," a series of reactions in the blood triggered by tissue injury and platelet activation. With each step in the cascade, a coagulation factor in the blood is converted from an inactive to an active form. The active form of the factor then activates several molecules of the next factor in the series, and so on, until the final step, when fibrinogen is converted into fibrin.

The factors involved in the coagulation cascade are numbered I, II, and V through XIII. Factor I is fibrinogen, while factor II (fibrinogen's immediate precursor) is called prothrombin. Most of the coagulation factors are made in the liver, which needs an adequate supply of vitamin K to manufacture the different clotting factors.

When fibrinogen acts as an "acute-phase reactant," it rises sharply during tissue inflammation or injury. When this occurs, high fibrinogen levels may be a predictor for an increased risk of heart or circulatory disease. Other conditions in which fibrinogen is elevated are cancers of the stomach, breast, or kidney, and inflammatory disorders like rheumatoid arthritis.

Reduced fibrinogen levels can be found in liver disease, prostate cancer, lung disease, bone marrow lesions, malnourishment, and certain bleeding disorders. The low levels can be used to evaluate disseminated intravascular coagulation (DIS), a serious medical condition that develops when there is a disturbed balance between bleeding and clotting. Other conditions related to decreased fibrinogen levels are those in which fibrinogen is completely absent (congenital afibrinogenemia), conditions in which levels are low (hypofibrinogenemia), and conditions of abnormal fibrinogen (dysfibrinogenemia). Obstetric complications or trauma may also cause low levels. Large-volume blood transfusions cause low levels because banked blood does not contain fibrinogen.

Preparation

This test is performed with a blood sample, which can be drawn at any time of day. The patient does not have to be fasting (nothing to eat or drink).

Aftercare

Because a fibrinogen test is often ordered when a bleeding disorder is suspected, the patient should apply pressure or a pressure dressing to the blood-drawn site site for a period of time after blood is drawn, and then reexamine the site for bleeding.

Risks

Risks for this test are minimal, but may include slight bleeding from the blood-drawing site, fainting or feeling lightheaded after procedure, or the seeing the accumulation of blood under the puncture site (hematoma).

Normal results

Normal reference ranges are laboratory-specific, but are usually within the following:

  • Adult: 200 mg/dL-400 mg/dL
  • Newborn: 125 mg/dL-300 mg/dL.

Abnormal results

Spontaneous bleeding can occur with values less than 100 mg/dL.

Key Terms

Fibrin
The last step in the coagulation process. Fibrin forms strands that add bulk to a forming blood clot to hold it in place and help "plug" an injured blood vessel wall.
Platelet
An irregularly shaped cell-like particle in the blood that is an important part of blood clotting. Platelets are activated when an injury causes a blood vessel to break. They change shape from round to spiny, "sticking" to the broken vessel wall and to each other to begin the clotting process.
Prothrombin
A type of protein called a glycoprotein that is converted to thrombin during the clotting process.
Thrombin
An enzyme that converts fibrinogen into strands of fibrin.

Further Reading

For Your Information

    Books

  • Cahill, Mathew. Handbook of Diagnostic Tests. Springhouse Corporation, 1995.
  • Jacobs, David S. Laboratory Test Handbook. 4th ed. Lexi-Comp Inc., 1996.
  • Pagana, Kathleen Deska. Mosby's Manual of Diagnostic and Laboratory Tests. Mosby, Inc., 1998.

Gale Encyclopedia of Medicine. Gale Research, 1999.

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