Factor V Leiden (FVL) is a genetic disorder that affects the clotting process in the body, leading to an increased risk of developing blood clots, especially in veins. It is the most common inherited form of thrombophilia (an abnormal tendency to form blood clots).
The normal clotting process in the body involves a series of steps, with each step depending on the activation of specific proteins, called clotting factors. Factor V is one of these clotting factors that plays a critical role in the clotting process. In people with FVL, there is a mutation in the Factor V gene, resulting in a change in the Factor V protein, making it resistant to degradation by activated protein C. This leads to the formation of more blood clots than usual, increasing the risk of developing deep vein thrombosis (DVT), pulmonary embolism (PE), and other blood clotting disorders.
FVL is an autosomal dominant genetic disorder, which means that a person with one copy of the FVL gene from one parent can develop the disorder. A person with two copies of the FVL gene, one from each parent, has a higher risk of developing blood clots.
FVL is most commonly diagnosed in people who have had blood clots, especially if they occur at a young age or if they have a family history of blood clots. However, many people with FVL never develop blood clots, and the disorder may be identified incidentally during routine laboratory testing.
Symptoms of FVL are similar to those of other blood clotting disorders and include swelling, pain, and warmth in the affected area, shortness of breath, chest pain, and coughing up blood. If left untreated, blood clots can lead to serious complications, such as pulmonary embolism, stroke, and heart attack.
Treatment for FVL depends on the individual’s medical history and the severity of their symptoms. For those who have had blood clots, anticoagulant medications, such as heparin and warfarin, are typically used to prevent the formation of additional clots. These medications can be taken orally or by injection and require regular monitoring of blood levels to ensure proper dosing.
In conclusion, Factor V Leiden is a genetic disorder that increases the risk of blood clots, especially in veins, and can lead to serious complications if left untreated. Although there is no cure for FVL, treatment can help prevent the formation of blood clots and reduce the risk of complications. People with a family history of blood clots or who have had blood clots themselves should speak with their healthcare provider about screening for FVL.