Question 1

What is Congenital Fibrinogen Deficiency?

Accepted Answer

Congenital fibrinogen deficiency is a rare inherited bleeding disorder that impairs blood clotting. It is caused by genetic mutations affecting the F11, FGA, FGB, or FGG genes that control fibrinogen production and function. The Fibrinogen Activity test is the most important test for diagnosis as it directly measures functional fibrinogen levels in the blood.

Question 2

What causes congenital fibrinogen deficiency?

Accepted Answer

Congenital fibrinogen deficiency is caused by mutations in the FGA, FGB, or FGG genes that provide instructions for making fibrinogen, a critical blood clotting protein. These genetic mutations are inherited from one or both parents in an autosomal recessive pattern, meaning you need two copies of the mutated gene to develop the condition. The mutations either prevent the liver from producing fibrinogen (afibrinogenemia) or cause it to produce dysfunctional fibrinogen (dysfibrinogenemia or hypofibrinogenemia), leading to impaired blood clotting ability.

Question 3

What is the best test for congenital fibrinogen deficiency?

Accepted Answer

The Fibrinogen Activity test is the most important test for congenital fibrinogen deficiency because it directly measures the functional level of fibrinogen in your blood using the Clauss method. This test detects both absent fibrinogen (afibrinogenemia) and reduced fibrinogen levels (hypofibrinogenemia), which are the hallmarks of this genetic disorder. Normal fibrinogen levels range from 200-400 mg/dL, but people with congenital fibrinogen deficiency may have significantly reduced levels or no detectable fibrinogen at all. Additional coagulation tests like PT and aPTT may show prolonged clotting times, but the Fibrinogen Activity test provides the specific diagnosis needed to confirm this rare bleeding disorder.

Question 4

When should I get tested for congenital fibrinogen deficiency?

Accepted Answer

You should get tested if you experience unexplained prolonged bleeding after minor cuts or injuries, excessive bruising from minimal trauma, heavy menstrual periods, nosebleeds that are difficult to stop, or bleeding complications after surgery or dental procedures. Testing is especially important if you have a family history of bleeding disorders or if both of your parents are carriers of fibrinogen gene mutations. Getting tested early allows for proper management and can help prevent serious bleeding complications during surgeries, childbirth, or traumatic injuries.

Question 5

What are the symptoms of congenital fibrinogen deficiency?

Accepted Answer

Symptoms of congenital fibrinogen deficiency vary based on severity and include prolonged bleeding from cuts, wounds, or after surgery, frequent nosebleeds, easy bruising even from minor bumps, bleeding gums during brushing or dental work, heavy or prolonged menstrual periods in women, and umbilical cord bleeding in newborns. People with afibrinogenemia (complete absence of fibrinogen) experience the most severe symptoms, including spontaneous bleeding into joints and muscles, while those with hypofibrinogenemia (reduced fibrinogen) may have milder bleeding episodes. Some individuals with dysfibrinogenemia may have few symptoms or even an increased tendency toward blood clots rather than bleeding.

Question 6

Who is at risk for congenital fibrinogen deficiency?

Accepted Answer

People with parents who both carry mutations in the FGA, FGB, or FGG genes are at highest risk for congenital fibrinogen deficiency, as it follows an autosomal recessive inheritance pattern. The condition affects both males and females equally and occurs in approximately 1-2 per million people worldwide, making it extremely rare. Individuals from families with known bleeding disorders or consanguineous marriages (marriages between close relatives) have higher risk. Carriers with only one mutated gene typically do not show symptoms but can pass the mutation to their children.

Question 7

What happens if congenital fibrinogen deficiency is left untreated?

Accepted Answer

Untreated congenital fibrinogen deficiency can lead to life-threatening bleeding complications including severe hemorrhage during surgery, childbirth, or dental procedures, spontaneous bleeding into the brain (intracranial hemorrhage), bleeding into joints causing permanent joint damage and arthritis, bleeding into muscles leading to compartment syndrome, miscarriage or pregnancy complications in women, and prolonged bleeding from even minor injuries that can result in severe blood loss. Early diagnosis and proper management with fibrinogen replacement therapy during high-risk situations can prevent these serious complications and significantly improve quality of life.

Question 8

Can congenital fibrinogen deficiency be diagnosed with a blood test?

Accepted Answer

Yes, congenital fibrinogen deficiency can be definitively diagnosed with blood tests, specifically the Fibrinogen Activity test which measures functional fibrinogen levels using the Clauss method. Additional blood tests including PT (prothrombin time), aPTT (activated partial thromboplastin time), and thrombin time help evaluate overall clotting function and typically show prolonged results in fibrinogen deficiency. Genetic testing can identify the specific mutations in the FGA, FGB, or FGG genes to confirm the diagnosis and provide information for family planning and genetic counseling.

Question 9

How is congenital fibrinogen deficiency treated?

Accepted Answer

Congenital fibrinogen deficiency is treated primarily with fibrinogen replacement therapy using fibrinogen concentrate (RiaSTAP) or cryoprecipitate, which contains concentrated fibrinogen, during bleeding episodes or before surgeries and dental procedures. Fresh frozen plasma can also be used when fibrinogen concentrate is unavailable. Treatment is typically given on-demand during bleeding episodes rather than as regular preventive therapy, unless someone has frequent severe bleeding. Antifibrinolytic medications like tranexamic acid may be used for minor bleeding or dental work to help stabilize blood clots. Genetic counseling is recommended for family planning, and patients should wear medical alert identification and inform all healthcare providers of their condition.

Question 10

How can I prevent complications from congenital fibrinogen deficiency?

Accepted Answer

You can prevent complications by avoiding activities with high injury risk like contact sports, informing all doctors, dentists, and surgeons about your condition before any procedures, receiving prophylactic fibrinogen replacement before planned surgeries or dental work, avoiding medications that increase bleeding risk such as aspirin, NSAIDs, and anticoagulants, and wearing a medical alert bracelet or necklace. Women with fibrinogen deficiency should work closely with high-risk pregnancy specialists and receive fibrinogen replacement during delivery. Regular follow-up with a hematologist who specializes in bleeding disorders ensures proper monitoring and management of your condition.

Question 11

What can I do at home for congenital fibrinogen deficiency?

Accepted Answer

At home, you can manage congenital fibrinogen deficiency by applying direct pressure to any bleeding sites for at least 10-15 minutes, using ice packs to reduce swelling and bleeding from minor injuries, keeping your home environment safe to minimize fall and injury risks, maintaining good dental hygiene to prevent gum bleeding, and using a soft-bristled toothbrush. Keep a list of your medications and medical history readily available for emergencies, and establish care with a local hematologist before any bleeding emergency occurs. While these measures help with minor bleeding, serious bleeding episodes require immediate medical attention and fibrinogen replacement therapy, so always have an emergency plan in place.

Question 12

How’s this work?

Accepted Answer

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Question 13

How do I know which test to get?

Accepted Answer

In the test options, find the test you want.
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Question 14

When will my lab results be available?

Accepted Answer

Most test results will be available within 1–3 business days. Once they're ready, we'll send an email and text message to let you know.
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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

Absolutely! We totally understand that errors can happen. No worries, we're here to help you.
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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

Yes.
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Question 18

How can I find a lab location near me?

Accepted Answer

During the ordering process, you’ll be able to select a specific lab near you, with no strings attached!
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Congenital Fibrinogen Deficiency Blood Test

What is Congenital Fibrinogen Deficiency?

What causes congenital fibrinogen deficiency?

What is the best test for congenital fibrinogen deficiency?

When should I get tested for congenital fibrinogen deficiency?

References

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