Factor VII Deficiency

What is factor VII deficiency?

Factor VII (factor 7 or factor seven) deficiency is an inherited blood disorder that prevents your blood from clotting normally. Factor VII is one of several proteins in your blood known as a “coagulation” or “clotting factor.” These proteins work together to help your platelets form clots that stop bleeding if you’re injured.

Not having enough functioning factor VII can cause your blood to clot too slowly. This may cause you to bruise and bleed more easily than someone without this condition.

Other names for factor VII deficiency are Alexander’s disease and proconvertin deficiency.

How common is factor VII deficiency?

Factor VII deficiency is rare, occurring in about 1 in every 500,000 people worldwide. There are several inherited blood clotting disorders that medical experts classify as “rare.” Factor VII deficiency is considered the most common of these rare blood disorders.

What are the symptoms?

Factor VII deficiency can lead to prolonged bleeding and easy bruising. Signs and symptoms include:

• Bleeding gums.
• Nosebleeds (epistaxis) that are hard to stop.
• Heavy periods (menorrhagia).
• Bloody pee (hematuria) or bloody stools.
• Ongoing bleeding after an injury, surgical procedure or childbirth.
• Internal bleeding (in your GI tract, tissue, muscles or joints).
• Bleeding in your brain (intracranial bleeding).
• Spontaneous bleeding (bleeding for no apparent reason).

Symptom severity and when they show up vary. For example, infants born with severe factor VII deficiency may get diagnosed at birth. People with mild symptoms may not learn there’s an issue until adulthood.

What causes factor VII deficiency?

Factor VII deficiency is primarily an inherited disorder, although there is a form you can acquire over time.

If you’re born with factor VII deficiency, that means you inherited a mutation (error) on your F7 gene. This gene controls how your body makes factor VII. To have factor VII deficiency, you must inherit a mutation from both biological parents. This is called autosomal recessive inheritance. If both parents have the mutation, there’s a 25% chance they’ll have a child with factor VII deficiency.

The form of factor VII deficiency you develop over time is called acquired factor VII deficiency. Potential causes include:

• Liver disease. Your liver makes factor VII protein. Severe liver disease can prevent your liver from doing this work.
• Vitamin K deficiency. Vitamin K is a key ingredient your body needs to make factor VII. Not having enough can lead to factor VII deficiency.
• Blood-thinning medications. Taking warfarin (Coumadin®) or other blood thinners can lead to factor VII deficiency.
• Blood cell disorders and cancer. Studies report cases of people with aplastic anemia and leukemia who’ve developed factor VII deficiency.

What are the complications of factor VII deficiency?

In severe cases, untreated factor VII deficiency can lead to other health problems, like:

• Anemia. Too much blood loss can cause your red blood cell levels to dip too low.
• Damaged joints. Bleeding in your joints can wear down the tissue so you have less range of motion.
• Hematomas. A hematoma is a collection of congealed blood that forms beneath your skin. Large hematomas can place pressure on nearby organs and lead to painful symptoms.

Severe blood loss can be life-threatening without treatment. This is why it’s crucial to seek care if you’re experiencing blood loss that won’t ease up.

How is factor VII deficiency diagnosed?

Your healthcare provider will ask questions about your symptoms and your family history of bleeding disorders. Providers check for factor VII deficiency using blood tests that assess how effectively your blood clots. Tests include:

• Prothrombin time (PT/INR) test. This test measures how quickly blood forms clots based on the action of a clotting factor called prothrombin. Clotting usually takes longer than normal if you have factor VII deficiency.
• Partial thromboplastin time (PTT) test. This test checks clotting time based on the action of clotting factors other than prothrombin. Results are usually normal with factor VII deficiency.
• Factor VII assay: This test shows how factor VII protein is working.

How is factor VII deficiency treated?

Treatment usually involves adding functioning factor VII to your blood. You’ll likely work with a blood disorders specialist called a hematologist to determine the type of treatment you’ll need and how often you’ll need it.

Treatments include:

• Recombinant factor VIIa(NovoSeven®): This medicine is U.S. Food and Drug Administration (FDA)-approved to treat factor VII deficiency. Scientists make it in a lab, which means that, unlike other factor VII replacement options, it doesn’t come from human-donated blood.
• Prothrombin complex concentrates (PCC): This treatment contains high concentrations of four clotting factors taken from donated blood, including factor VII.
• Fresh frozen plasma (FFP): You may need IV infusions of plasma to help build up your store of factor VII.

Other treatments include:

• Antifibrinolytic agents: These medications prevent your body from breaking down blood clots. Preserving the blood clots you do have prevents excessive bleeding. Types include aminocaproic acid and tranexamic acid.
• Birth control pills: Some types of birth control pills prevent heavy period bleeding.
• Vitamin K supplements or injections: Getting more vitamin K can help your body make more factor VII if your condition is related to a vitamin K deficiency.

Complications/side effects of the treatment

Treatments that add factor VII to your blood can sometimes lead to complications. Still, it’s important to remember that your healthcare provider is aware of the risks and will take steps to prevent them.

Potential complications of factor VII treatment may include:

• Harmful blood clots: Adding factor VII may increase your risk of clots that can block blood vessels. Your provider will monitor your medication dosage to reduce this risk.
• Exposure to pathogens: Receiving donated blood always comes with the risk of being exposed to harmful pathogens (like viruses or bacteria) in the blood. Providers screen blood products carefully to prevent this.
• Transfusion reactions: You may develop an allergic reaction to donated plasma.
• Plasma overload: Factor VII breaks down and leaves your bloodstream fast. You may need large amounts of plasma to counteract this effect so enough factor VII stays in your body. This can lead to too much plasma in your system. Potential effects of a plasma overload include high blood pressure and swelling in your lungs (pulmonary edema).

What can I expect if I have factor VII deficiency?

Factor VII deficiency is a lifelong condition. But even though there’s no cure, you can work with your healthcare provider to manage it.

One of the biggest challenges in determining prognosis is that there’s no way to predict symptom severity based on how low your factor VII levels are. Instead, providers work with people with this deficiency on a case-by-case basis. Your outlook depends on your unique experience, including what’s causing the deficiency, your response to treatment and how severe your bleeding tends to be.

How do I take care of myself?

It’s essential that you let all healthcare providers know of your condition. If your child has factor VII deficiency, make sure their caregivers (including teachers and daycare workers) know.

Ask your provider about the day-to-day things you can do to care for yourself. They may recommend that you:

• Avoid high-risk activities. You may need to avoid activities that increase your risk of an injury, like contact sports.
• Avoid certain medications. You may need to steer clear of medicines that thin your blood, including aspirin, NSAIDs and SSRI anti-depressants. You may need to avoid taking fish oil, vitamin E and turmeric supplements, which can also cause worsening bleeding.
• Have your treatment plan letter with you. Be sure to carry paperwork from your hematologist outlining what healthcare workers should do to care for you in an emergency.
• Get genetic counseling or testing. Before trying for a baby, you may choose to work with a genetic counselor to assess the risks of passing along factor VII deficiency to your child.

When should I see my healthcare provider?

See your provider if you or your child show signs of prolonged bleeding or frequent bruising. Things like nosebleeds and the occasional bruise are facts of life. But in excess, they could be a sign of a blood disorder.

When should I go to the ER?

Go to the emergency room (ER) if your blood loss poses risks to your health. Signs include:

• A nosebleed lasting an hour or more.
• Bleeding through two or more pads or tampons every hour for two or more hours.

What questions should I ask my healthcare provider?

Questions to ask your provider include:

• Is my factor VII deficiency genetic or acquired?
• What treatments will I need?
• How often will I need treatments?
• What potential treatment side effects should I know about?
• What lifestyle changes should I make to manage my condition?

Is factor VII deficiency the same as hemophilia?

Factor VII deficiency and hemophilia are two separate (but related) inherited blood disorders. But while factor VII deficiency involves having too little factor VII (7) protein, the most common type of hemophilia (hemophilia A) involves having too little factor VIII (8) protein.

Hemophilia A is more common than factor VII deficiency, affecting about 1 in 100,000 people. It’s also more likely to affect men and people assigned male at birth (AMAB).

But the most important takeaway is that both conditions can lead to excessive blood loss and require close management with the help of a healthcare provider.