Afibrinogenemia
What is Afibrinogenemia?
Afibrinogenemia is a rare inherited bleeding disorder where the body cannot produce fibrinogen. Fibrinogen is a protein your blood needs to form clots. Without it, even minor injuries can cause serious bleeding that does not stop on its own.
This condition affects fewer than 1 in 1 million people worldwide. It is present from birth and lasts throughout life. People with afibrinogenemia have extremely low or undetectable levels of fibrinogen in their blood.
The condition is genetic and passed down through families. Both parents must carry the gene mutation for a child to develop afibrinogenemia. Early diagnosis through blood testing helps people manage the condition and prevent life-threatening bleeding episodes.
Symptoms
- Excessive bleeding from minor cuts or injuries that does not stop
- Frequent nosebleeds that are difficult to control
- Easy bruising even from light contact
- Bleeding in the umbilical cord stump after birth
- Bleeding into joints causing pain and swelling
- Bleeding into muscles causing pain and stiffness
- Heavy menstrual bleeding in women
- Bleeding in the digestive tract causing dark stools
- Bleeding in the brain or skull in severe cases
- Prolonged bleeding after dental work or surgery
Most people with afibrinogenemia experience bleeding symptoms early in life, often during infancy. Some may have milder symptoms that appear later in childhood. The severity of bleeding can vary from person to person.
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Causes and risk factors
Afibrinogenemia is caused by mutations in the genes that control fibrinogen production. The condition follows an autosomal recessive inheritance pattern. This means both parents must pass on a mutated gene for a child to have the disorder. Parents who carry one copy of the mutation usually have no symptoms themselves.
The genetic mutations prevent the liver from making fibrinogen properly. Three genes can be affected: FGA, FGB, or FGG. Each codes for a different part of the fibrinogen protein. When mutations occur in these genes, the body cannot assemble functional fibrinogen molecules. There are no lifestyle or environmental risk factors. The condition is entirely genetic and determined before birth.
How it's diagnosed
Afibrinogenemia is diagnosed through blood tests that measure fibrinogen levels. The Clauss method is a standard test that shows extremely low or undetectable fibrinogen in people with this condition. Fibrinogen antigen testing can also confirm the absence of the protein. These tests are usually ordered when someone has unexplained bleeding problems, especially in infancy or childhood.
Rite Aid offers fibrinogen testing through our add-on test options at Quest Diagnostics locations nationwide. Additional tests may include prothrombin time and activated partial thromboplastin time to assess overall clotting ability. Genetic testing can identify the specific mutations and confirm the diagnosis. Family members may also be tested to determine if they carry the gene mutation.
Treatment options
- Fibrinogen replacement therapy during bleeding episodes or before surgery
- Cryoprecipitate infusions to provide temporary fibrinogen
- Fresh frozen plasma as an alternative replacement therapy
- Avoiding activities with high injury risk such as contact sports
- Using protective gear during physical activities
- Avoiding medications that interfere with clotting like aspirin
- Regular monitoring with blood tests to track fibrinogen levels
- Working with a hematologist experienced in bleeding disorders
- Wearing medical alert identification at all times
- Planning ahead for dental work or surgical procedures with replacement therapy
Need testing for Afibrinogenemia? 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
Afibrinogenemia means fibrinogen is completely absent or undetectable in the blood. Hypofibrinogenemia means fibrinogen levels are low but still measurable. Both are genetic bleeding disorders, but afibrinogenemia is more severe and causes more serious bleeding problems.
Afibrinogenemia follows an autosomal recessive pattern. Both parents must carry and pass on a mutated gene for a child to have the condition. Parents who carry only one copy are called carriers and typically have no symptoms. Each child of two carriers has a 25% chance of having afibrinogenemia.
Yes, prenatal testing can detect afibrinogenemia if there is a known family history. Genetic testing on cells from amniocentesis or chorionic villus sampling can identify the mutations. This testing is usually offered when both parents are known carriers of the gene mutation.
The most serious complications include bleeding in the brain, which can cause stroke or death. Internal bleeding into organs or the digestive tract can also be life-threatening. Bleeding into joints repeatedly can cause permanent damage and disability. Severe bleeding during childbirth is a major risk for women with this condition.
Treatment frequency varies based on bleeding episodes and activities. Some people need regular preventive infusions of fibrinogen concentrate. Others receive treatment only during bleeding episodes or before procedures. Working with a hematologist helps create an individualized treatment plan.
Yes, but pregnancy requires careful medical management. Women need fibrinogen replacement therapy during pregnancy and especially during delivery. Close monitoring by both a hematologist and high-risk obstetrician is essential. Planning ahead and receiving care at specialized centers improves outcomes for both mother and baby.
Seek immediate medical attention for any significant bleeding. Apply direct pressure to external bleeding sites while waiting for help. Contact your hematologist or go to an emergency room equipped to give fibrinogen replacement therapy. Wear medical alert identification so emergency responders know about your condition.
No specific diet changes increase fibrinogen production in afibrinogenemia. The condition is caused by genetic inability to make the protein. However, maintaining good nutrition supports overall health and wound healing. Avoid alcohol, which can increase bleeding risk and interfere with liver function.
Both are genetic bleeding disorders, but they affect different clotting factors. Hemophilia involves missing or low clotting factors VIII or IX. Afibrinogenemia involves missing fibrinogen, which forms the structure of blood clots. Treatment approaches differ, with each requiring replacement of the specific missing protein.
True afibrinogenemia is always present from birth because it is an inherited genetic condition. If fibrinogen becomes low or absent later in life, it is called acquired afibrinogenemia and has different causes. Acquired forms may result from liver disease, severe infections, or certain cancers and require different treatment.