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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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.
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.
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.
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What this means
Your fibrinogen levels are elevated above the optimal range, which may indicate inflammation in your body or increased cardiovascular risk. While mildly elevated levels are common with stress, infection, or lifestyle factors, consistently high fibrinogen can contribute to thicker blood and higher risk of blood clots over time.
Recommended actions
Incorporate regular cardiovascular exercise like brisk walking, swimming, or cycling for 30 minutes most days
Adopt an anti-inflammatory diet rich in omega-3s from fish, nuts, and colorful vegetables
Quit smoking if applicable and manage stress through meditation or yoga
Retest in 3-6 months to monitor trends and effectiveness of lifestyle changes
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