Does your blood clot unnecessarily? Let's talk about Factor V Leiden Thrombophilia!

When we get a cut or injury anywhere on our body, blood clotting is very important to stop the bleeding . It is a defense mechanism of our body. But, what happens if blood clots form inside the blood vessels inside the body for no reason? That can be a bit dangerous. Today we are going to talk about such a hereditary condition that increases the risk of blood clotting unnecessarily. That is Factor V Leiden thrombophilia .

Simply put, what is Factor V Leiden?

Factor V Leiden thrombophilia is a condition caused by a genetic mutation that you inherit from birth . This makes your blood more likely to clot abnormally than normal. The name is pronounced “factor five Leiden.” The V stands for the Roman numeral five.

Not everyone with this condition will develop blood clots. However, you are at a higher risk of developing blood clots compared to someone without this genetic variation. This can lead to two main dangerous conditions:

• Deep vein thrombosis ( DVT ): This is when a blood clot forms in a blood vessel deep in the body. Most often, these form in the veins of the legs or arms. But sometimes they can also form in the veins of the liver , kidneys , brain, or eyes.
• Pulmonary embolism (PE): This is a little more dangerous. What happens here is that a blood clot that has formed breaks off, travels with the blood, and gets stuck in the lungs .

What are the symptoms that can identify this condition?

In fact, there are no symptoms associated with this genetic mutation. You can live your entire life without knowing it. However, if a blood clot forms, you will start to experience symptoms.

Very important: If you experience any of the following symptoms of DVT or PE, go to a hospital's Emergency Department (ETU) or call an ambulance immediately . This is not something to delay.

Why is this happening? What is the reason for this?

Factor V Leiden is caused by a genetic mutation. Let's explain this a little more simply.

There are many types of proteins that help our blood clot. These are called 'coagulation factors'. "Coagulation factor V" is one such key protein. Our body is instructed to make this protein by a gene called `F5`.

Normally, we are all born with two healthy copies of this `F5` gene. However, a person with Factor V Leiden condition has one or both copies of this `F5` gene that are defective. This defective gene was first discovered by a group of researchers in the city of `Leiden` in the Netherlands. That is why it got its name.

There is a slight change in the structure of the Factor V protein, which is produced by the body due to the instructions received from the defective `F5` gene. Due to this slight change, other proteins called `protein C` and `protein S`, which control blood clotting, that is, stop blood from clotting unnecessarily, cannot control this altered Factor V protein. It is like a car without brakes. So, blood starts clotting even at unnecessary times.

Is this something that comes from generations?

Yes. You can inherit this from your mother, your father, or both. It is inherited in an ``autosomal dominant`` pattern. This means that you can inherit this defective gene from either your mother or your father.

• Most people (heterozygous) inherit only one copy of this defective gene (from either mother or father).
• Very rarely, a person (homozygous) can inherit both copies of this defective gene (from both mother and father). These people are at a much higher risk of blood clots.

What factors increase the risk of blood clots?

If you have Factor V Leiden, the following things can increase your risk of developing a blood clot. It is therefore important to discuss this with your doctor.

How do doctors diagnose this condition? What are the treatments?

If you have a history of DVT or PE, especially at a young age, or if someone in your family has a history of this condition, your doctor may suspect Factor V Leiden.

Special blood tests (including genetic tests) are performed to diagnose this. This can tell you exactly whether you have this faulty gene, and if so, whether you have one or two copies of it.

Treatment methods

Because this is a lifelong genetic condition, there is no treatment to change the gene. Instead, treatments work to dissolve existing blood clots and reduce the risk of future clots. To do this, your doctor may recommend the following:

• Anticoagulant medication: These are also called ``blood thinners.'' These medications dissolve blood clots and prevent new clots from forming. Your doctor will decide how long you need to take these medications based on your risk.
• Compression stockings: These help improve blood circulation in the legs and reduce the risk of blood clots.
• Vena cava filter: This is a small filter-like device that is inserted into a major vein in the body to prevent blood clots that form in the legs from traveling to the lungs.
• Surgery: In some cases, blood clots need to be removed surgically.

How to live healthy with Factor V Leiden?

For most people with this condition, life expectancy is not affected. Even if a blood clot forms, early treatment can prevent serious consequences. So don't panic. However, it is very important to take care of your lifestyle.

• Avoid smoking completely.
• Don't sit in the same position for too long. Especially on long flights, get up and walk around and stretch your legs at least once an hour.
• Maintain a healthy body weight.
• Do not use hormone therapy containing estrogen without your doctor's advice.

It's normal to feel scared and anxious when you find out you have Factor V Leiden thrombophilia. But remember, the vast majority of people with this condition can live a normal life without any problems. The most important thing is to be aware of your condition and follow your doctor's advice.

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