March 19th, 2009
11:39 AM ET

Explain the factor V Leiden genetic mutation and blood clot risk

As a new feature of CNNhealth.com, our team of expert doctors will answer readers’ questions. Here’s a question for Dr. Gupta.

Asked by Sharon, Montgomery, Texas

"I just heard that this month is Deep Vein Thrombosis Awareness month, and that Heidi Collins has had DVT. My question is, does she also have factor V Leiden? I know she has celiac disease and just wonder if that was the cause of her blood clot or was it factor V? Did the news anchor who passed away in Iraq have factor V Leiden? Thank you for asking her this for me. I am curious because while I haven’t had DVT, I do have factor V Leiden."


Thank you Sharon for being such a loyal viewer of CNN and for this question. Deep vein thrombosis, or DVT develops in over 2 million Americans each year. Yet many people are not familiar with DVT, or the signs and symptoms. And getting treatment early can be the difference between life or death.

Simply put, DVT is a blood clot that develops in a vein in your leg. This clot restricts blood flow to the heart. In serious cases, the it can break apart, travel through the circulatory system and end up in the lungs. This often-fatal condition is known as a pulmonary embolism. DVT develops in seemingly healthy people of all ages, however, certain factors do increase your risk. Blood clots are most prevalent in smokers, during pregnancy, after undergoing an operation, and after sitting for long periods during air travel.

Genetic factors can also play a role. Factor V Leiden is a genetic mutation that increases a persons risk of developing a blood clot. Up to 40 percent of people who develop DVT are carriers of the gene.

People often don’t know they have factor V because doctors don’t regularly screen for it. Former NBC correspondent David Bloom, who died from a blood clot while covering the war in Iraq, was a carrier of the factor V Leiden mutation.

His wife, Melanie Bloom, revealed in a CNN interview, that it wasn’t until after her husband’s death that they discovered he had the mutation. However she believes it was a combination of risk factors that lead to his death–not just factor V. “Along with the restricted mobility and dehydration and the long-haul flights leading up to embedding with the troops, we found, after doing David’s autopsy, that he had a gene–factor V Leiden that did predispose him. But it just added to his other risk factors,” Melanie Bloom said.

My friend, and CNN Newsroom anchor, Heidi Collins discovered she had a serious blood clot after experiencing a cramp in her leg. We sent Heidi your question, here is her response:

“The doctors in the emergency room at the Air Force Academy found my clot back in 1997 after I experienced severe leg pain. Four months later after arterial bypass surgery I was out of the hospital and was cured. Literally. No more clot, and no more complications. Unfortunately, to this day, none of the team of 20 doctors at the Mayo Clinic could determine what caused my clot. I was tested for factor V and I did not have the gene. The only thing my blood continued to show was a positive ANA (anti-nuclear antibody). It usually indicates there is something going on with the immune system; typically an indication of an autoimmune disease. Sadly, even after that continuous finding, I was not tested for celiac disease. Lupus was one of many diagnoses but no mention of celiac disease, which I knew nothing of until about eight years later. As far as I know, there is no connection that can be proven between celiac and DVT. But I can say that I have now met four other people with celiac disease that have had clots. Personally, it sure would explain a lot about why I got so sick all those years ago. I will be watching very closely to see if a link can be made.”

Sharon, I was happy to read that, despite being a carrier of factor V, you have not developed DVT. By knowing you’re genetically predisposed to clots, you can make lifestyle changes to lower the risk of it occurring in the future.

Anyone who experiences unusual leg cramps, swelling, redness or skin warm to the touch should seek medical attention immediately. It could be an early sign of DVT.

To learn more on how to prevent DVT and about factor V Leiden, click here.

Heidi Collins is the spokesperson for the National Foundation for Celiac Awareness. Find out more by clicking here.

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Get a behind-the-scenes look at the latest stories from CNN Chief Medical Correspondent, Dr. Sanjay Gupta, Senior Medical Correspondent Elizabeth Cohen and the CNN Medical Unit producers. They'll share news and views on health and medical trends - info that will help you take better care of yourself and the people you love.