Question 1

What is Afibrinogenemia?

Accepted Answer

Afibrinogenemia is a rare inherited bleeding disorder characterized by the complete absence of fibrinogen, a protein essential for blood clotting. It is caused by genetic mutations in the FGA, FGB, or FGG genes that prevent the production of functional fibrinogen. The Fibrinogen Activity test is the most important test for diagnosis, as it directly measures the blood's clotting ability and reveals extremely low or undetectable fibrinogen levels.

Question 2

What causes afibrinogenemia?

Accepted Answer

Afibrinogenemia is caused by inherited mutations in the FGA, FGB, or FGG genes, which provide instructions for making the three parts of the fibrinogen protein. These genetic defects prevent the liver from producing functional fibrinogen, leaving the blood unable to clot properly. The condition follows an autosomal recessive inheritance pattern, meaning a child must inherit a mutated gene from both parents to develop afibrinogenemia.

Question 3

What is the best test for afibrinogenemia?

Accepted Answer

The Fibrinogen Activity test is the most important test for afibrinogenemia because it directly measures how much functional fibrinogen is available for blood clotting. This test uses the Clauss method and will show extremely low to undetectable levels (typically below 10 mg/dL) in people with afibrinogenemia, compared to normal levels of 200-400 mg/dL. The Fibrinogen Antigen test is often ordered as a confirmatory test to measure the actual amount of fibrinogen protein present, which also will be extremely low or absent in afibrinogenemia. Together, these tests provide definitive evidence of the condition and help distinguish it from other bleeding disorders.

Question 4

When should I get tested for afibrinogenemia?

Accepted Answer

You should get tested if you experience unexplained excessive bleeding, such as spontaneous bleeding episodes, severe bleeding after minor injuries or dental procedures, prolonged bleeding that is difficult to stop, or if you have a family history of bleeding disorders. Newborns with afibrinogenemia may present with umbilical cord bleeding or bleeding from the circumcision site. Women may experience heavy menstrual periods or complications during pregnancy. Early diagnosis is critical for proper management and preventing life-threatening bleeding events.

Question 5

What are the symptoms of afibrinogenemia?

Accepted Answer

People with afibrinogenemia experience excessive bleeding that can range from mild to severe. Common symptoms include frequent nosebleeds, easy bruising, bleeding gums, prolonged bleeding from cuts or injuries, and spontaneous bleeding into joints or muscles. Women often have very heavy menstrual periods and may face complications during pregnancy or childbirth. Some people experience bleeding in the brain or digestive tract, which can be life-threatening. The first signs often appear in infancy with umbilical cord bleeding or excessive bleeding after circumcision.

Question 6

Who is at risk for afibrinogenemia?

Accepted Answer

Afibrinogenemia affects people who inherit two copies of a mutated fibrinogen gene, one from each parent. Parents who each carry one mutated gene are typically unaffected carriers but have a 25% chance with each pregnancy of having a child with afibrinogenemia. The condition affects males and females equally and occurs in all ethnic groups, though it is extremely rare with an estimated incidence of 1 in 1 million people. Families with a history of unexplained bleeding disorders or known carriers of fibrinogen gene mutations have the highest risk.

Question 7

What happens if afibrinogenemia is left untreated?

Accepted Answer

Untreated afibrinogenemia can lead to life-threatening bleeding complications. People may experience spontaneous bleeding into the brain (intracranial hemorrhage), which can cause permanent neurological damage or death. Bleeding into joints can lead to chronic joint damage and disability. Severe bleeding after injuries, surgeries, or dental procedures can be fatal without proper treatment. Women face significant risks during pregnancy and childbirth, including miscarriage, placental abruption, and postpartum hemorrhage. Early diagnosis and appropriate treatment with fibrinogen replacement therapy are essential to prevent these serious complications.

Question 8

Can afibrinogenemia be diagnosed with a blood test?

Accepted Answer

Yes, afibrinogenemia can be definitively diagnosed with specialized blood tests that measure fibrinogen levels. The Fibrinogen Activity test measures how well fibrinogen functions in the clotting process, while the Fibrinogen Antigen test measures the actual amount of fibrinogen protein present. In people with afibrinogenemia, both tests will show extremely low or undetectable levels. Additional blood tests may show prolonged prothrombin time (PT) and activated partial thromboplastin time (aPTT), which are general measures of blood clotting ability. Genetic testing can identify the specific mutations in the FGA, FGB, or FGG genes that cause the condition.

Question 9

How is afibrinogenemia treated?

Accepted Answer

Afibrinogenemia is treated primarily with fibrinogen replacement therapy to prevent and control bleeding episodes. Treatment options include fibrinogen concentrate (the preferred treatment) or cryoprecipitate, which contains concentrated fibrinogen. Patients receive regular infusions to maintain safe fibrinogen levels, especially before surgeries, dental procedures, or during pregnancy. Fresh frozen plasma may be used in emergency situations when fibrinogen concentrate is unavailable. People with afibrinogenemia need lifelong monitoring and treatment to prevent bleeding complications. Genetic counseling is recommended for affected individuals and their families.

Question 10

How can I prevent afibrinogenemia?

Accepted Answer

Afibrinogenemia cannot be prevented because it is an inherited genetic condition present from birth. However, prospective parents who are known carriers of fibrinogen gene mutations can work with genetic counselors to understand their risk of having an affected child. Prenatal testing and preimplantation genetic diagnosis are options for couples at high risk. Once diagnosed, preventing bleeding complications is possible through regular fibrinogen replacement therapy, avoiding activities that increase bleeding risk, and maintaining close communication with a hematologist who specializes in bleeding disorders.

Question 11

What can I do at home for afibrinogenemia?

Accepted Answer

While medical treatment is essential for afibrinogenemia, you can take steps at home to reduce bleeding risk and manage the condition. Avoid contact sports and activities with high injury risk, and use soft toothbrushes to prevent gum bleeding. Keep a medical alert bracelet or card indicating your condition for emergencies. Avoid medications that interfere with blood clotting, such as aspirin and nonsteroidal anti-inflammatory drugs (NSAIDs), unless approved by your doctor. Apply firm pressure to any cuts or bleeding sites for at least 10-15 minutes. Maintain regular follow-up appointments and keep emergency contact information for your hematologist readily available.

Question 12

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Accepted Answer

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Question 13

How do I know which test to get?

Accepted Answer

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Question 14

When will my lab results be available?

Accepted Answer

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Question 15

Is it possible to make changes to my lab order if I made a mistake with the name, date of birth, or any other details?

Accepted Answer

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Question 16

Do you accept health insurance?

Accepted Answer

Only HSA & FSA is accepted.
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Question 17

Can I cancel my order?

Accepted Answer

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Question 18

How can I find a lab location near me?

Accepted Answer

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Afibrinogenemia Blood Test

What is Afibrinogenemia?

What causes afibrinogenemia?

What is the best test for afibrinogenemia?

When should I get tested for afibrinogenemia?

References

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