Question 1

What is Fibrinogen Deficiency (Hypofibrinogenemia or Afibrinogenemia)?

Accepted Answer

Fibrinogen deficiency is a rare genetic bleeding disorder where the body produces insufficient fibrinogen (hypofibrinogenemia) or no fibrinogen at all (afibrinogenemia). It is caused by mutations in the genes responsible for producing fibrinogen, a critical protein required for blood clot formation. The Fibrinogen Activity test is the most important test for diagnosing these conditions because it directly measures the functional levels of fibrinogen in the blood.

Question 2

What causes fibrinogen deficiency?

Accepted Answer

Fibrinogen deficiency is caused by genetic mutations in the FGA, FGB, or FGG genes that control fibrinogen production. These mutations are inherited in an autosomal recessive pattern, meaning you must receive a defective gene from both parents to develop the condition. In hypofibrinogenemia, the mutations result in reduced fibrinogen production, while in afibrinogenemia, the mutations completely prevent fibrinogen synthesis, leaving the blood unable to clot properly.

Question 3

What is the best test for fibrinogen deficiency?

Accepted Answer

The Fibrinogen Activity test is the most important test for fibrinogen deficiency because it directly measures the functional levels of fibrinogen protein in your blood. This test quantifies how much active fibrinogen is available to form blood clots, with normal levels ranging from 200-400 mg/dL. In hypofibrinogenemia, the test reveals reduced but detectable fibrinogen levels, while in afibrinogenemia, fibrinogen is virtually absent. This single test provides definitive diagnostic information that distinguishes between these rare genetic bleeding disorders and guides appropriate treatment decisions.

Question 4

When should I get tested for fibrinogen deficiency?

Accepted Answer

You should get tested if you experience unexplained excessive bleeding after minor injuries, prolonged bleeding after surgery or dental procedures, frequent nosebleeds, easy bruising without injury, or bleeding into joints and muscles. Testing is especially important if you have a family history of bleeding disorders or if routine blood work shows abnormal clotting times. Women with unexplained heavy menstrual bleeding or recurrent pregnancy loss should also consider testing, as fibrinogen is essential for normal clotting during menstruation and pregnancy.

Question 5

What are the symptoms of fibrinogen deficiency?

Accepted Answer

Symptoms of fibrinogen deficiency include excessive bleeding from cuts or wounds that is difficult to stop, spontaneous bleeding into muscles and joints causing pain and swelling, easy bruising even from minor bumps, prolonged bleeding after dental work or surgery, frequent nosebleeds, and heavy menstrual periods in women. People with afibrinogenemia typically have more severe symptoms than those with hypofibrinogenemia. Some individuals may also experience bleeding in the umbilical cord at birth or abnormal bleeding after circumcision.

Question 6

Who is at risk for fibrinogen deficiency?

Accepted Answer

People at highest risk for fibrinogen deficiency are those with a family history of the condition, as it is inherited through genetic mutations. The disorder is more common in populations with higher rates of consanguineous marriages (marriages between close relatives), which increases the likelihood of inheriting two copies of the defective gene. Both males and females are equally affected. While fibrinogen deficiency is present from birth, some people with milder forms may not be diagnosed until they experience unusual bleeding after surgery, trauma, or during pregnancy.

Question 7

What happens if fibrinogen deficiency is left untreated?

Accepted Answer

Untreated fibrinogen deficiency can lead to life-threatening bleeding complications, including spontaneous internal bleeding in the brain, gastrointestinal tract, or other organs. People may experience severe bleeding after minor injuries or surgical procedures that cannot be controlled without medical intervention. Joint bleeding can cause permanent damage and disability over time. Women face increased risks during pregnancy, including miscarriage, placental abruption, and severe postpartum hemorrhaging. Early diagnosis and proper management with fibrinogen replacement therapy are essential to prevent these serious complications and maintain quality of life.

Question 8

Can fibrinogen deficiency be diagnosed with a blood test?

Accepted Answer

Yes, fibrinogen deficiency is diagnosed through blood testing, specifically the Fibrinogen Activity test which measures the functional levels of fibrinogen protein in your blood. This blood test provides quantitative results that clearly distinguish between normal fibrinogen levels, hypofibrinogenemia (reduced levels), and afibrinogenemia (absent levels). Additional coagulation tests like prothrombin time and activated partial thromboplastin time may show abnormal clotting, which prompts further fibrinogen testing. Genetic testing can also confirm the specific gene mutations responsible for the condition.

Question 9

How is fibrinogen deficiency treated?

Accepted Answer

Fibrinogen deficiency is treated primarily with fibrinogen replacement therapy, which involves infusing fibrinogen concentrate or cryoprecipitate to restore normal clotting function. Treatment is typically given before planned surgeries or dental procedures to prevent excessive bleeding, and as needed to control active bleeding episodes. People with severe afibrinogenemia may require regular preventive infusions to avoid spontaneous bleeding. Antifibrinolytic medications like tranexamic acid may also be used to help stabilize clots. Long-term management includes avoiding medications that impair clotting, such as aspirin and nonsteroidal anti-inflammatory drugs.

Question 10

How can I prevent complications from fibrinogen deficiency?

Accepted Answer

While you cannot prevent the genetic condition itself, you can prevent complications by maintaining regular care with a hematologist who specializes in bleeding disorders, wearing a medical alert bracelet identifying your condition, avoiding contact sports and activities with high injury risk, and informing all healthcare providers about your diagnosis before any procedures. Avoid medications that affect blood clotting like aspirin, ibuprofen, and anticoagulants unless specifically prescribed by your doctor. Women with fibrinogen deficiency should work closely with high-risk pregnancy specialists for proper management during pregnancy and delivery.

Question 11

What can I do at home for fibrinogen deficiency?

Accepted Answer

At home, you can manage fibrinogen deficiency by applying direct pressure to any cuts or bleeding sites for at least 15-20 minutes, using ice packs on bruised areas to reduce swelling, and keeping a well-stocked first aid kit with pressure bandages and gauze. Maintain a list of your medications and emergency contact information for your hematologist. Practice good oral hygiene with a soft toothbrush to prevent gum bleeding, and use electric razors instead of blades to avoid cuts. However, home measures are supportive only—seek immediate medical attention for any significant bleeding that does not stop with pressure within 20 minutes.

Question 12

How’s this work?

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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Fibrinogen Deficiency Blood Test

What is Fibrinogen Deficiency (Hypofibrinogenemia or Afibrinogenemia)?

What causes fibrinogen deficiency?

What is the best test for fibrinogen deficiency?

When should I get tested for fibrinogen deficiency?

References

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