Congenital Afibrinogenemia Blood Test

What is Congenital Afibrinogenemia?

Congenital afibrinogenemia is an extremely rare inherited bleeding disorder characterized by the complete absence of fibrinogen, a critical blood clotting protein. It is caused by mutations in the FGA, FGB, or FGG genes that prevent the production of functional fibrinogen protein. The Fibrinogen Antigen test is the most important test for diagnosis because it directly measures fibrinogen protein levels in the blood.

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What causes congenital afibrinogenemia?

Congenital afibrinogenemia is caused by inherited mutations in one of three genes: FGA, FGB, or FGG. These genes provide instructions for making the three protein chains that combine to form fibrinogen, a critical clotting protein. When both copies of one of these genes are mutated, the body cannot produce any functional fibrinogen, resulting in a complete inability to form stable blood clots and leading to severe bleeding episodes throughout life.

What is the best test for congenital afibrinogenemia?

The Fibrinogen Antigen test is the most important test for congenital afibrinogenemia because it directly measures the amount of fibrinogen protein in your blood. In people with this rare genetic disorder, fibrinogen levels are either completely absent (less than 5 mg/dL) or severely reduced, compared to normal levels of 200-400 mg/dL. This test provides definitive evidence of the condition and distinguishes it from other bleeding disorders. The test is essential not only for diagnosis but also for monitoring treatment response when fibrinogen replacement therapy is administered.

When should I get tested for congenital afibrinogenemia?

You should get tested if you experience unexplained bleeding episodes that seem excessive, such as severe nosebleeds, excessive bleeding from minor cuts, easy bruising, prolonged bleeding after dental procedures, or unusual bleeding after surgery. Testing is especially important if you have a family history of unexplained bleeding disorders or if routine blood clotting tests show abnormal results. Women should get tested if they experience heavy menstrual bleeding or recurrent miscarriages, as these can be early signs of a clotting disorder.

What are the symptoms of congenital afibrinogenemia?
Symptoms of congenital afibrinogenemia include prolonged bleeding from cuts or injuries, frequent and severe nosebleeds, easy bruising even from minor bumps, bleeding from the gums or mouth, and excessive bleeding after dental work or surgery. Women may experience extremely heavy menstrual periods and complications during pregnancy including miscarriage or excessive bleeding during childbirth. Some people may also experience spontaneous bleeding into joints or muscles, causing pain and swelling. The severity of bleeding episodes can vary but typically begins in infancy or early childhood.
Who is at risk for congenital afibrinogenemia?
People with a family history of congenital afibrinogenemia are at highest risk, as this is an inherited autosomal recessive disorder requiring two mutated gene copies. Children born to parents who are both carriers of a fibrinogen gene mutation have a 25% chance of developing the condition. The disorder affects males and females equally and occurs in approximately 1 in 1 million people worldwide. Certain populations with higher rates of consanguineous marriages may see slightly higher incidence rates due to the recessive inheritance pattern.
What happens if congenital afibrinogenemia is left untreated?
If left untreated, congenital afibrinogenemia can lead to life-threatening bleeding complications including severe internal bleeding, brain hemorrhages, and excessive blood loss from injuries or surgical procedures. Women face serious risks during menstruation, pregnancy, and childbirth without proper management. Repeated bleeding into joints can cause permanent joint damage and disability. Without fibrinogen replacement therapy during bleeding episodes, even minor injuries can become medical emergencies. Early diagnosis and proper management are critical to prevent these serious complications and maintain quality of life.
Can congenital afibrinogenemia be diagnosed with a blood test?
Yes, congenital afibrinogenemia can be definitively diagnosed with blood tests. The Fibrinogen Antigen test directly measures fibrinogen protein levels and will show absent or extremely low levels (less than 5 mg/dL) in people with this condition. Additional blood tests like prothrombin time (PT) and activated partial thromboplastin time (aPTT) will show prolonged clotting times. Genetic testing can identify the specific gene mutation causing the disorder. These blood tests provide clear diagnostic evidence and help distinguish congenital afibrinogenemia from other bleeding disorders.
How is congenital afibrinogenemia treated?
Congenital afibrinogenemia is treated primarily with fibrinogen replacement therapy during bleeding episodes or before surgical procedures. This involves infusions of fibrinogen concentrate or cryoprecipitate, which contains concentrated fibrinogen and other clotting factors. Preventive treatment may be given before dental work, surgery, or childbirth to prevent excessive bleeding. Some patients receive regular prophylactic infusions to prevent spontaneous bleeding episodes. Additional treatments may include antifibrinolytic medications to help stabilize blood clots and supportive care like iron supplements for people who experience chronic bleeding and anemia.
How can I prevent complications from congenital afibrinogenemia?
You can prevent complications by working closely with a hematologist who specializes in bleeding disorders and following a comprehensive treatment plan. Avoid activities with high injury risk and medications that affect blood clotting like aspirin, ibuprofen, and other NSAIDs. Always inform healthcare providers, dentists, and surgeons about your condition before any procedures so they can provide preventive fibrinogen replacement therapy. Wear medical alert identification and carry information about your condition. For women, discuss pregnancy planning with your healthcare team to ensure proper management during conception, pregnancy, and delivery.
What can I do at home for congenital afibrinogenemia?
At home, you should take precautions to minimize injury risk by using soft-bristled toothbrushes, avoiding contact sports, and padding sharp furniture corners especially if you have children with the condition. Apply firm, continuous pressure to any cuts or bleeding sites for at least 15-20 minutes. Keep your living environment safe by removing tripping hazards and ensuring good lighting. Maintain a list of your medications, treatment history, and emergency contact numbers for your hematologist. Educate family members about recognizing signs of serious bleeding and when to seek emergency care. While these measures help manage daily life, they do not replace medical treatment with fibrinogen replacement therapy.
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