Factor V Leiden Thrombophilia

Factor V Leiden thrombophilia is named after the city Leiden in the Netherlands.

When you get a cut or scrape, your body forms a clot to stop the bleeding. Clots are clumps of blood cells called platelets and the liquid part of your blood called plasma. Factor V Leiden, also called FVL, is a change in your genes (the doctor will call it a mutation) that keeps this process from working right. It's leads to a condition called factor V Leiden thrombophilia.

It works like this: Factor V (factor 5) is one of several special proteins in your blood that help it clot. They’re called clotting factors. Once the bleeding stops, other proteins tell your clotting factors to break up the clot, and it goes away.

Factor V Leiden causes hypercoagulability, which makes it harder for your clots to break up. If the clots don't go away, you're more likely to have one in the veins in your legs. This is called deep venous thrombosis (DVT). You're also at higher risk for having clots that travel through your bloodstream. These can cause a blockage in the arteries in your lungs, known as pulmonary embolism (PE).

You get it from your genes. That means you were born with a gene mutation that causes it. You can get it from one or both of your parents.

Factor V Leiden is the most common cause of inherited thrombophilia accounting for 40-50% of cases. People with factor V Leiden thrombophilia have a higher-than-average risk of developing venous thromboembolic disease. The relative risk for venous thrombosis is increased approximately three to eightfold in individuals who are heterozygous for the factor V Leiden allele. It increased 18 to 80 fold in individuals who are homozygous. This can manifest as DVTs, pulmonary embolisms or other venous outflow obstructions.

Factor V Leiden thrombophilia is diagnosed either by using a coagulation screening test or by DNA analysis of F5, which encodes the factor V protein. Managing this disorder is challenging, because the current treatment regimen available can increase the patient’s chance of bleeding.

Symptoms

Some people with factor V Leiden may never know they have it. When there are signs of it, the first is usually a clot somewhere in the body. The clots can be minor or life-threatening, depending on where they are.

The signs of a clot include:

Pain
Redness
Swelling
Warmth

A deep vein clot (DVT) typically shows up in your leg. It causes the same symptoms but with more swelling.

Pulmonary embolisms caused by traveling clots can damage your lungs and can even be fatal. Symptoms include:

Chest pain or discomfort, which usually gets worse with a deep breath or coughing
Coughing up blood
Trouble breathing
Fast or irregular heartbeat
Very low blood pressure, dizziness, or fainting

Diagnosis

Your doctor will ask about your medical history and any clots you or any family members may have had.

Treatment:

People with factor V Leiden thrombophilia who've had a deep venous thrombosis (DVT) or pulmonary embolism (PE) are usually treated with blood thinners, or anticoagulants (such as heparin and warfarin). Anticoagulants are given for varying amounts of time depending on the person's situation.

Heparin: works more quickly than warfarin does and is safe in pregnancy, but must be monitored closely due to the risk of excess bleeding. 2) Warfarin: Bleeding is the most common side effect of warfarin and it interacts with the metabolism of numerous other medications. 3) Dabigatran: It does not require the same monitoring that heparin and warfarin do but there is no reversal medication for excess bleeding. 4) Rivaroxaban: Currently FDA approved for the prevention of blood clots in certain people, but is not specifically approved for the treatment of blood clots. It can also interact with a number of medications and is known to cause recurrent GI bleed

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