Factor VII Deficiency Blood Test

What is Factor VII Deficiency?

Factor VII deficiency is a rare inherited bleeding disorder characterized by abnormal or prolonged bleeding episodes. It is caused by low levels or complete absence of Factor VII protein, which is essential for the extrinsic pathway of blood clotting. The Prothrombin Time (PT/INR) test is the most important test for diagnosis because it directly measures clotting time affected by Factor VII levels.

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What causes Factor VII deficiency?

Factor VII deficiency is caused by genetic mutations that reduce or eliminate production of Factor VII protein in the blood. These mutations are inherited in an autosomal recessive pattern, meaning a person must inherit two defective genes (one from each parent) to develop the condition. Some individuals inherit only one defective gene and become carriers, typically experiencing mild or no symptoms, while those with two defective genes may have moderate to severe bleeding complications.

What is the best test for Factor VII deficiency?

The Prothrombin Time (PT/INR) test is the most important test for Factor VII deficiency because it directly measures the clotting time of the extrinsic pathway where Factor VII plays a critical role. A prolonged PT/INR result indicates that Factor VII levels are insufficient to promote normal blood clotting. When this test shows abnormal results, your healthcare provider may order additional specialized coagulation studies to measure Factor VII activity levels specifically and determine the severity of the deficiency. These follow-up tests help distinguish Factor VII deficiency from other clotting disorders and guide treatment decisions.

When should I get tested for Factor VII deficiency?

You should get tested if you experience unexplained prolonged bleeding after minor cuts or injuries, excessive bleeding after dental procedures or surgery, frequent nosebleeds that are difficult to stop, easy bruising without obvious trauma, or if you have a family history of bleeding disorders. Women should also consider testing if they experience unusually heavy menstrual periods. Early diagnosis is important because knowing about Factor VII deficiency before planned surgeries or dental work allows healthcare providers to take preventive measures to reduce bleeding complications.

What are the symptoms of Factor VII deficiency?
Symptoms of Factor VII deficiency vary widely depending on the severity of the condition. Mild cases may cause only minor bleeding issues like easy bruising, frequent nosebleeds, or prolonged bleeding from small cuts. Moderate to severe cases can lead to spontaneous bleeding into joints or muscles, excessive bleeding after surgery or dental procedures, heavy menstrual bleeding in women, and in rare cases, life-threatening bleeding in the brain or gastrointestinal tract. Some individuals with very mild deficiency may have no symptoms at all and are only diagnosed through routine blood work.
Who is at risk for Factor VII deficiency?
Factor VII deficiency primarily affects individuals who inherit defective genes from both parents, making it more common in populations where consanguineous marriages (between blood relatives) are prevalent. Children born to parents who are both carriers have a 25% chance of developing the condition. The disorder affects males and females equally and occurs across all ethnic groups, though certain populations may have higher carrier rates. Anyone with a family history of unexplained bleeding problems or known Factor VII deficiency should consider genetic counseling and testing.
What happens if Factor VII deficiency is left untreated?
Untreated Factor VII deficiency can lead to serious complications including uncontrolled bleeding during surgeries or dental procedures, chronic joint damage from repeated bleeding into joints, severe anemia from ongoing blood loss, and potentially life-threatening internal bleeding episodes. Women with undiagnosed Factor VII deficiency face increased risks during childbirth and may experience dangerous postpartum hemorrhage. Early diagnosis and proper management significantly reduce these risks by allowing healthcare providers to plan preventive treatments before high-risk situations and respond quickly to bleeding episodes.
Can Factor VII deficiency be diagnosed with a blood test?
Yes, Factor VII deficiency can be diagnosed through blood tests, starting with the Prothrombin Time (PT/INR) test which screens for clotting abnormalities. If this initial test shows prolonged clotting time, your healthcare provider will order specific Factor VII activity assays that measure the actual level of functional Factor VII protein in your blood. These specialized tests quantify Factor VII levels as a percentage of normal, helping determine whether you have mild, moderate, or severe deficiency. Genetic testing may also be performed to identify the specific mutations causing the condition.
How is Factor VII deficiency treated?
Treatment for Factor VII deficiency depends on the severity of symptoms and bleeding episodes. Mild cases may require no routine treatment, with intervention only during surgeries or dental procedures. For moderate to severe cases, recombinant Factor VIIa concentrate can be administered intravenously to temporarily restore normal clotting function during bleeding episodes or before planned procedures. Fresh frozen plasma may also be used as an alternative treatment. People with Factor VII deficiency should avoid aspirin and other medications that impair clotting, and should inform all healthcare providers about their condition before any medical or dental procedures.
How can I prevent Factor VII deficiency?
Factor VII deficiency cannot be prevented because it is an inherited genetic condition. However, if you have a family history of bleeding disorders, genetic counseling before having children can help you understand the risks of passing the condition to your offspring. Couples who are both carriers may consider prenatal genetic testing or preimplantation genetic diagnosis with in vitro fertilization to make informed family planning decisions. For individuals already diagnosed with Factor VII deficiency, preventing bleeding complications involves avoiding activities with high injury risk, maintaining regular medical care, and ensuring all healthcare providers are aware of the condition.
What can I do at home for Factor VII deficiency?
At home, people with Factor VII deficiency should take practical steps to minimize bleeding risks. Avoid contact sports and activities with high injury potential, use soft-bristled toothbrushes to prevent gum bleeding, and apply pressure to cuts for at least 10-15 minutes. Keep a medical alert bracelet or card identifying your condition in case of emergencies. Maintain a list of all medications and avoid over-the-counter drugs like aspirin, ibuprofen, and other NSAIDs that can worsen bleeding. Apply ice packs to bruises or joint bleeds to reduce swelling, and elevate injured areas when possible. Always have emergency contact information for your hematologist readily available.
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