Do you also have a condition where even a small cut doesn't stop bleeding? (Factor VII Deficiency)

Do you sometimes feel like it takes a long time for even a small cut to stop bleeding? Or do you just turn blue and bruise? Maybe there's a reason behind these things that we don't know about. That's what Factor VII deficiency is.

What is Factor VII Deficiency?

Simply put, Factor VII deficiency is a genetic condition in which your blood does not clot properly, meaning that it does not stop bleeding quickly. There are several types of proteins in our blood called 'blood clotting factors' or 'coagulation factors' . Factor VII is one such protein. All of these proteins work together with your platelets to form a blood clot to stop bleeding when you get injured. This process is like building a wall with bricks and cement. So, if you don't have enough of this important protein called Factor VII in your body, or if it doesn't work properly, it takes longer for your blood to clot than normal. This is why you bruise and bleed more easily than others.

Other names for this are Alexander's disease and proconvertin deficiency .

How common is this factor VII deficiency?

This is actually a rare condition . Worldwide, it affects about one in 500,000 people . There are many inherited blood clotting disorders that doctors classify as "rare." Factor VII deficiency is one of the most common of these rare diseases.

What are the symptoms of this?

Factor VII deficiency can cause prolonged bleeding and easy bruising. The main symptoms include:

• Bleeding gums.
• Nosebleeds (epistaxis) , and difficulty stopping them.
• For women, heavy bleeding during menstruation (menorrhagia).
• Blood in the urine (hematuria) or blood in the stool.
• Continuous bleeding after an injury, surgery, or childbirth.
• Internal bleeding inside the body (for example, in the gastrointestinal system, tissues, muscles, joints).
• Intracranial bleeding can also occur. This is a bit more serious.
• Spontaneous bleeding occurs when bleeding suddenly begins for no apparent reason.

The severity of these symptoms and when they appear vary from person to person. For example, a baby with severe Factor VII deficiency may be diagnosed at birth. However, someone with milder symptoms may not be diagnosed until they are older.

What causes Factor VII deficiency?

Although this is mainly a hereditary disease , there is also a way in which this condition can occur during life.

If you are born with factor VII deficiency , it means you have inherited a mutation, or defect, in your F7 gene . This gene controls how your body makes factor VII. To develop factor VII deficiency, you must inherit this gene mutation from both biological parents . This is called autosomal recessive inheritance . If both parents have this mutation, they have about a 25% chance of having a child with factor VII deficiency.

Factor VII deficiency that develops over time is called 'acquired factor VII deficiency' . There are several possible causes for this:

• Liver disease: Your liver makes the Factor VII protein. If you have severe liver disease, your liver may not be able to do this job properly.
• Vitamin K deficiency: Vitamin K is essential for the body to make Factor VII. If you don't get enough of it, you can develop Factor VII deficiency.
• Blood-thinning medications: This condition can also occur when using blood-thinning medications such as Warfarin (Coumadin®) .
• Blood cell disorders and cancer: Factor VII deficiency has been reported in people with diseases such as aplastic anemia and leukemia .

What are the complications of Factor VII deficiency?

In severe cases, Factor VII deficiency can lead to other health problems if left untreated. For example:

• Anemia: When too much blood is lost from the body, your red blood cell count can drop significantly.
• Joint damage: When there is bleeding inside a joint, the tissue there may wear away and the joint may not be able to bend or straighten properly.
• Hematomas: A hematoma is a collection of blood clots under your skin. If a large hematoma forms, it can put pressure on nearby organs and cause painful symptoms.

Most importantly, severe bleeding can be life-threatening if left untreated. That's why it's important to seek medical advice if the bleeding doesn't stop.

How is Factor VII deficiency diagnosed?

Your doctor will ask you about your symptoms and whether anyone in your family has a history of bleeding disorders. Factor VII deficiency is diagnosed with blood tests that assess how well your blood clots.

These tests include:

• Prothrombin time (PT/INR) test: This measures how long it takes for blood to clot based on the activity of a blood clotting factor called prothrombin. If you have factor VII deficiency, it takes longer than normal for blood to clot.
• Partial thromboplastin time (PTT) test: This measures the time it takes for blood to clot based on the activity of clotting factors other than prothrombin. The results of this test are usually normal in someone with factor VII deficiency.
• Factor VII assay: This test shows how the Factor VII protein is working.

How is factor VII deficiency treated?

Treatment usually involves adding properly functioning factor VII to your blood. You will likely work with a doctor who specializes in blood disorders, called a hematologist , who will decide what treatment you need and how long you will need it for.

There are several main treatment methods:

• Recombinant factor VIIa (NovoSeven®): This medicine is approved by the US Food and Drug Administration (FDA) to treat factor VII deficiency. It is made by scientists in a laboratory. This means that, unlike other factor VII replacement therapies, it is not made from donated blood from people.
• Prothrombin complex concentrates (PCC): This treatment contains high concentrations of four clotting factors, including factor VII, taken from donated blood.
• Fresh frozen plasma (FFP): You may also be given plasma intravenously to help rebuild your Factor VII stores.

Other treatments:

• Antifibrinolytic agents: These medications work by stopping the blood clots that form in your body from dissolving. They help prevent excessive bleeding by protecting the blood clots that are already in your body. Examples include drugs called aminocaproic acid and tranexamic acid .
• Birth control pills: Some types of birth control pills prevent heavy bleeding during menstruation.
• Vitamin K supplements or injections: If your condition is caused by a vitamin K deficiency, getting more vitamin K can help your body make more factor VII.

What are the complications/side effects of the treatment?

Treatments that add factor VII to the blood can sometimes cause complications. However, it is important to remember that your doctor is aware of these risks and is taking steps to prevent them.

Possible complications of Factor VII therapy may include:

• Harmful blood clots: Adding factor VII may increase the risk of blood clots that can block blood vessels. Your doctor will monitor your medication dosage to reduce this risk.
• Exposure to pathogens: When receiving donated blood, there is always a risk of exposure to harmful pathogens (e.g., viruses or bacteria) in the blood. Doctors carefully screen blood products to prevent this.
• Transfusion reactions: You may have an allergic reaction to donated plasma.
• Plasma overload: Factor VII is broken down too quickly and removed from your blood. To prevent this, you may need a large amount of plasma to keep enough factor VII in your body. This can cause an increase in plasma in your system. The effects of plasma overload can include high blood pressure and swelling of the lungs (pulmonary edema) .

What can I expect if I have Factor VII deficiency?

Factor VII deficiency is a lifelong condition . Although there is no cure, you can work with your doctor to manage it.

One of the biggest challenges in determining how severe the disease will be is that it is not possible to predict the severity of symptoms based on how low your Factor VII levels are. Instead, doctors work with people with this deficiency on an individual basis. Your outlook will depend on factors unique to you, such as your experience, what caused the deficiency, how you respond to treatment, and how severe your bleeding is usually.

How do I take care of myself?

It is important to tell all healthcare providers who treat you about your condition. If your child has factor VII deficiency, tell anyone who cares for him or her (including teachers and daycare workers).

Ask your doctor about things you can do to take care of yourself on a daily basis. He or she may recommend things like:

• Avoid high-risk activities: You may want to avoid activities that increase the risk of injury (e.g., contact sports).
• Avoid certain medications: You may need to stay away from medications that thin your blood (e.g., aspirin , NSAIDs , SSRI antidepressants ). You may also want to avoid supplements containing fish oil, vitamin E, and turmeric, as these can also increase bleeding.
• Keep a copy of your treatment plan: It is important to keep the documentation from your hematologist about how you should be treated by healthcare professionals in the event of an emergency.
• Get genetic counseling or testing: Before trying to have a baby, you can talk to a genetic counselor to assess your child's risk of inheriting factor VII deficiency.

When should I see my doctor?

If you or your child notice any signs of persistent bleeding or frequent blueness, see your doctor. Nosebleeds and occasional blueness are normal. But if they happen more than usual, it could be a sign of a blood problem.

When should I go to the Emergency Treatment Unit (ETU) ?

If your bleeding is a threat to your health, go to the emergency room. Look for signs like these:

• Nosebleeds lasting an hour or more.
• Wetting more than two pads or two tampons per hour for two hours or more (for women).

What questions should I ask my doctor?

Here are some questions you can ask your doctor:

• Is my Factor VII deficiency hereditary or did it develop later?
• What kind of treatment do I need?
• How long will I have to undergo treatment?
• What side effects should I be aware of during treatment?
• What lifestyle changes do I need to make to manage my condition?

Is Factor VII deficiency the same as 'hemophilia'?

Factor VII deficiency and hemophilia are two related, but separate, inherited blood disorders. Factor VII deficiency is caused by a deficiency of the protein Factor VII (7), while hemophilia A , the most common type of hemophilia, is caused by a deficiency of the protein Factor VIII (8).

Hemophilia A is more common than factor VII deficiency, affecting about one in 100,000 people. It is also more common in men .

But the most important thing is that both of these conditions can cause excessive bleeding, so they need to be managed well with the help of a doctor.

The most important things to remember

There is no way to prevent being born with the blood clotting disorder factor VII deficiency. But that doesn't mean you (or your baby) can't live a healthy, active life with this condition. Your hematologist can help you prevent and manage bleeding. He or she can also help you develop a plan for what to do if you bleed too much. Don't worry, you can live successfully with this condition.

` Factor VII Deficiency, Blood Clotting, Bleeding, Hereditary Diseases, Alexander's Disease, Hematologist, Blood Diseases