Afibrinogenemia (Congenital)
What is Afibrinogenemia (Congenital)?
Congenital afibrinogenemia is a rare inherited bleeding disorder. People with this condition lack fibrinogen, a protein that helps blood clot. Without fibrinogen, the blood cannot form stable clots to stop bleeding.
This condition is passed down through families in an autosomal recessive pattern. That means a child must inherit two faulty genes, one from each parent, to develop the disorder. The mutations occur in three specific genes: FGA, FGB, or FGG. These genes normally provide instructions for making fibrinogen protein.
Afibrinogenemia affects roughly 1 to 2 people per million worldwide. It causes serious bleeding problems from birth or early childhood. Early diagnosis and proper management can help people with this condition live full lives.
Symptoms
- Bleeding from the umbilical cord at birth
- Excessive bruising from minor bumps or injuries
- Prolonged bleeding after cuts, dental work, or surgery
- Frequent nosebleeds that are hard to stop
- Heavy menstrual bleeding in women
- Bleeding into joints causing pain and swelling
- Bleeding into muscles creating large bruises
- Blood in urine or stool
- Internal bleeding in the brain or digestive system
Most people with afibrinogenemia show symptoms early in life. Bleeding from the umbilical cord is often the first sign. Some symptoms appear only after injury or surgery.
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Causes and risk factors
Afibrinogenemia is caused by mutations in one of three genes: FGA, FGB, or FGG. These genes contain the instructions for making the three parts of fibrinogen protein. When both copies of any of these genes are faulty, the body cannot produce any fibrinogen at all. Both parents must carry one mutated gene to pass the condition to their child.
There are no lifestyle risk factors for this genetic condition. It is not caused by diet, injury, or environmental exposures. Family history is the only risk factor. Parents who are carriers usually have no symptoms themselves. Genetic counseling can help families understand their risk of passing the condition to children.
How it's diagnosed
Afibrinogenemia is diagnosed through blood tests that measure fibrinogen levels. A fibrinogen test will show undetectable levels, typically below 50 mg/dL. Normal fibrinogen levels range from 200 to 400 mg/dL. Other clotting tests like PT and aPTT will also show abnormal results because clotting cannot occur without fibrinogen.
Rite Aid offers fibrinogen testing as an add-on to our preventive health panel. This test can help monitor fibrinogen levels in people already diagnosed with the condition. Genetic testing can confirm which specific gene mutation is present. Doctors may test newborns if there is bleeding from the umbilical cord or a family history of the disorder.
Treatment options
- Fibrinogen replacement therapy through IV infusion during bleeding episodes
- Preventive fibrinogen infusions before surgery or dental procedures
- Cryoprecipitate or fresh frozen plasma as alternative clotting factor sources
- Avoiding medications that interfere with clotting like aspirin and ibuprofen
- Wearing medical alert jewelry to inform emergency responders
- Using protective gear during physical activities to prevent injuries
- Regular monitoring with fibrinogen blood tests
- Working with a hematologist experienced in bleeding disorders
- Genetic counseling for family planning decisions
Need testing for Afibrinogenemia (Congenital)? Add it to your panel.
- Simple blood draw at your nearest lab
- Results in days, not weeks
- Share results with your doctor
Frequently asked questions
The main symptom is serious bleeding that is hard to stop. Many babies with afibrinogenemia bleed from the umbilical cord after birth. Throughout life, people with this condition bruise easily and bleed heavily from cuts, dental work, or surgery.
Afibrinogenemia is inherited in an autosomal recessive pattern. A child must receive one faulty gene from each parent to develop the condition. Parents who carry one mutated gene usually have no symptoms but can pass the gene to their children.
Yes, a fibrinogen blood test is the primary diagnostic tool. People with afibrinogenemia have undetectable fibrinogen levels, usually below 50 mg/dL. Normal levels range from 200 to 400 mg/dL, so the absence is clear and definitive.
There is no cure, but the condition can be managed effectively. Treatment involves replacing fibrinogen through IV infusions during bleeding episodes or before procedures. With proper care and monitoring, people with afibrinogenemia can live full lives.
Treatment frequency depends on bleeding episodes and planned procedures. Some people need regular preventive infusions. Others receive treatment only when bleeding occurs or before surgery and dental work.
People should avoid contact sports and activities with high injury risk. They should also avoid medications that interfere with clotting, like aspirin and ibuprofen. Each person should work with their doctor to determine safe activities based on their specific situation.
Yes, but pregnancy requires careful management by a specialized medical team. Women need regular fibrinogen replacement therapy during pregnancy and delivery to prevent bleeding complications. Early planning and monitoring are essential for a safe pregnancy and birth.
Afibrinogenemia is very rare, affecting only 1 to 2 people per million worldwide. Because it requires two faulty genes, one from each parent, it occurs much less often than conditions that need only one mutated gene.
Afibrinogenemia means no fibrinogen is present in the blood. Hypofibrinogenemia means fibrinogen levels are low but detectable. Afibrinogenemia causes more serious bleeding problems because the body has no fibrinogen at all.
Yes, family members should consider genetic testing and counseling. Parents and siblings may be carriers of the mutated gene. Knowing carrier status helps with family planning decisions and understanding risk for future children.