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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."

Answer:

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.


soundoff (48 Responses)
  1. Laurie Racca

    My mother has celiac disease and recently had two large blood clots removed from her legs. She does have mobility issues as well. It would be helpful to know if celiac disease increases the risk of DVT as other members of the family have been diagnosed celiac as well.

    March 19, 2009 at 14:32 | Report abuse | Reply
  2. Terry

    My daughter had DVT, it was discovered because her leg became quite enlarged. Upon further testing she was diagnosed with Lupus. We treated the DVT with daily injections of Lovenox for almost a year. Unfortunatley, shortly before her 22 birthday, and about three weeks before a doctors appoint intended to x-ray the area of the clot, she died. The medical examiner and I both agreed that she most likely died from a piece of the clot traveling and lodging in either her brain or lungs. Although, we followed protocol for the treatment of her DVT, I will always regret not following up on it sooner and looking at it to see if it had shrunk and showed signs of improvement, using the additonal treatment plans available may have saved her life.

    March 22, 2009 at 19:47 | Report abuse | Reply
  3. kevin001

    Nice, thanks for share! lower leg pain
    causes

    March 26, 2009 at 04:45 | Report abuse | Reply
  4. Kathy

    I am a doctor, an adult cardiologist.
    My understanding is that celiac disease is associated with DVT/blood clots. You lose clotting factors through your stool as you fail to absorb things with celiac.

    March 26, 2009 at 19:53 | Report abuse | Reply
  5. Kelly P.

    I have Factor V Leiden and also have had 3 DVTs invovling 3 deep veins each time. I have clotted while theraputic on Coumadin. It's important to everyone to know the signs of DVTs and to get it checked out ASAP if you recognize any symptoms. It's also important for women who are on birth control pills and/or hormone replacement therapy to be cognizant of the possibility of an increased incidence of DVTs while on these medications.

    April 9, 2009 at 13:25 | Report abuse | Reply
  6. lynda

    My daughtewr ,a fit and healthy 21 yr old was complainnig of pains in her leg but the hospital put it down to muscular pain as she is a black belt in kick boxing.Four weeks after she ahd attended the hospital last october she woke in middle of night screaming that she couldnt breath .It took the hospital over 12 hours to realise what was wrong with her and were going to send her home.She had a blood clot on each lung which had traveled from the leg.A young doctor on the ward suggested that she had the test for factor v leiden and they found out she has it.I thank god she was not sent home because she is so fit the oxgen levels in her blood were good it was only for that one doctor who sent her for a scan.They have said she is a carrier of it and i have been tested iam to,i dont really know what carrier means but i know it has to be taken seriously.looking back on family history my nan died of a blood clot after a operation ,this is a hidden gene and usually only is found when something serious happens,i have wrote this and ask anyone with symptoms of a blood clot to go to the hospital and be persistant as i will in future you are sometimes talking of life or death here.Take care everyone.

    April 18, 2009 at 08:23 | Report abuse | Reply
  7. Lori Hainey

    i was a dancer for years always very active. at 45 i developed a DVT in my calf after having torn the calf muscle in 3 places playing tennnis. after this i developed another DVT and had other signs of circulatory issues showing up. for about 2 yrs before this i had circulation issues show up also. i was diagnosed with factor v leiden. only one side of family apparently had the gene. i am now under eval by a vascular surgeon due to developing a clot out of the blue while sitting at my desk at work about 3 wks ago. It is a scary disorder. i have been on 325 mg aspirin for the last 2 yrs but it does not seem to be working.

    June 3, 2009 at 19:38 | Report abuse | Reply
  8. Sue

    Blood clots can lead to many health complicatons including stroke and are more common among inactive and/or obese individuals.

    Blood clots are life threatening however exercise can help prevent their formation and assist in dissoving of existing clots. This fact was discovered and presented to the American Heart association in 2003 by the University of Colorado Health Sciences Center.

    The study found that levels of an essential blood clot dissolver known as tissue type plaminogen activator (t-PA) are greatly diminished in overweight men (by as much as 30%). This reduced protection in the blood stream leads eventually to problems with blood clots.

    Walking for a period of three months for a mere 45 minutes a day, five days a week however increased the amount of t-PA in the obese participants blood by as much as 50%. The study showed that after this walking regimine the obese subjects had similar levels of t-PA in their blood to that of lean participants in the study. Read more at http://www.trekdesk.com/walk/Blood_Clot.html

    June 23, 2009 at 22:07 | Report abuse | Reply
  9. Jessica

    I have Factor V Leiden and also had DVT's in several locations of my body. I had a stroke and none of the family was aware that any of carried this mutation until June 17,2009.
    I will definatley watch for things that I did not pay attention to before. What I thought was a spider bit on my leg that was painful and I couldn't walk had in the ER about a month later and that was after seeing a doctor for it.

    July 27, 2009 at 20:04 | Report abuse | Reply
  10. Jackie

    At 52, I learned that I have the V Leiden genetic "expression" after my 26 year old triathelete daughter developed a DVT. She was on the pill, but didn't know she had the Leiden defect until she developed a DVT after a long bike ride. Apparently, some of her doctors are advising her against pregnancy, saying it would put her at too high a risk for another DVT, now that it is known she has Leiden. This bothers me because I had two full-term babies before I knew I had this defect, and I didn't have any blood clots. Maybe I was lucky. However, I did develop a superficial vein thrombosis after a 3 hour flight when I was 49 years old. I think it is almost criminal that my vascular surgeon at the time (3 years ago) did not have me tested for Leiden, as I am very athletic and not overweight, don't smoke, etc – I was very low risk for blood clots. If he had recommended that I get tested, I could have passed this info on to my daughter, had her tested, and she could've avoided the scary DVT episode by discontinuing the pill.

    It is curious that some people with Leiden sail through years without problems, and others have repeated DVTs. I suppose it boils down to other risk factors, like diet, weight, hormone therapy, smoking, etc. It is rotten to be carrying around this propensity for hypercoagulability, but I guess there are worse things to live with. It is nice to read other posts and discover how others are dealing with this.

    August 3, 2009 at 23:11 | Report abuse | Reply
  11. Beth

    I was diagnosed with Factor V Leiden 5 minutes before being discharged from the hospital after a week long stay for 3 seizures. At the beginning of the week I could not move my left arm and my mother took me to the emergency room just in case I had a stroke. I did not. They tested my spinal fluid in case I had a brain aneurism. Nothing was found. The next day we went to my family doctor for a check up from the E.R. The doctor could not find anything wrong, and I grew very fatiqued so my mom helped me into the backseat of our car. Two days later I woke up in the emergency room again. Apparantly I seized in the back of our car. And again in the ambulance. And again upon arrival to the e.r. I had a large blood clot on the right side of my brain. I am 19 years old. I was hooked up to a cocktail of drugs, to stop the seizures, to thin the blood, and to control my nausea. After a week long stay they decided that since I could walk on my own I could be discharged and continue with the medication. Five minutes before leaving, the head neurologist told my family I had the factor v leiden disorder and that my birth control pills triggered the blood clot. I had been taking birth control since I was 11 because it was believed I had endometriosis. Factor v leiden explains alot of the pain I grew up with. I can no longer take birth control. And I feel nothing but heartfelt and sincere appreciation for all the nurses and techs who had to put up with a 19 year old little girl crying every morning at 5 am for a week when they would come wake me up and dump a pile of 8-10 different viles they had to fill with my blood.

    My biggest fear is that another young girl who believes she is protected by birth control will experience clotting issues and not discover them until she is strapped to an i.v. being pumped with meds. I feel insanely lucky that all my pains are explained and that I was not driving when I first began the seizures. I feel that many unexplained deaths in my family have possibly been solved. Though I am also very angry that because of my seizures, I cannot attend fall semester of college, or even drive for 6 months, or be active since bruising could cause internal bleeding. I am also angry that if I do decide to have children, I have to plan the whole thing. The magic of surprise cannot happen thanks to the blood clotting.

    August 12, 2009 at 03:22 | Report abuse | Reply
    • R

      Hi beth, that night I felt a big tsunami wave bumping over my heart...I just purchased over the counter estrogen supplement and took just ONE tablet..that night...it happened...in morning...i had bleeding through my nose(brain haemerrage) with tight chest, from calf to thigh full of blood clot....but something inside me ws telling me to take lemon juice a lot..doctors dont know how I survived...it took me one year to fully recover...

      June 10, 2013 at 21:13 | Report abuse |
  12. Jessika

    Wow, this is very interesting and kinda scary honestly. I have Celiac Disease and I did not know that people with CD were more prone to develop DVT. I am glad I read this though, to know what to watch out for. I am also on Birth Control, I only get pain in my calves from time to time but I also tore my right calf muscle a few years back so it could just be that acting up from time to time since it did not heal right. Very informative post!

    – Jessika : Celiac Speaks – Symptoms, Recipes, Restaurants and Daily Life

    September 25, 2009 at 01:29 | Report abuse | Reply
  13. Jackie

    This is my second posting. I had a lousy thing happen related to Leiden, but just an annoyance compared to many of the anecdotes above. But, this is something anyone with Leiden should watch out for.

    I was getting an MRI with contrast about 10 days ago. I was well-hydrated, but the tech could not stick the vein in my arm crease. My hand veins are very prominent, so he stuck my hand and injected the gadolinium (contrast dye) into my hand. Several hours later, tenderness in my forearm. Worse the next day and the next. It was the weekend, so I didn't get medical attention until 3.5 days after the injection. The urgent care doc said it was phlebitis, but I now know that it had already progressed to SVT, as I've had SVT in my leg and I recognize the feeling. Phlebitis should resolve with elevation, high does aspirin and hot compress, but this did not resolve. Had I known to do these things in the first few days, maybe I could've avoided the SVTs.

    Moral of this story is this: If you have Leiden or some other clotting disorder, be wary of technicians injecting you with foreign substances, especially in your hand. Several nurses I have talked with said gad should not be injected into a hand vein – too small, which increases likelihood of complication. I know my Leiden defect played a part, but the tech and referring doc should've been on top of this. Inexperienced tech – quite young.

    If any of you have had treatment for endometrial polyps, plz let me know about it. I have Leiden and my doc is recommending uterine fibroid embolization as treatment. However, I think I am at fairly high risk for unwanted blood clots in other arteries, due to the Leiden. I am considering asking for hysteroscopic resection, or just a vaginal hysterctomy. I don't think my doc has ever had a Leiden patient before who needs treatment for endometrial polyps. Any feedback would be appreciated.

    Jackie

    October 12, 2009 at 21:57 | Report abuse | Reply
    • jamileigh237

      This article is quite old so i am not sure if you will receive my reply, Jackie. I have Factor V, MTHFR (another clotting disorder), have had endometriosis for years, and also had an endometrial polyp removed earlier this year. I had no complications from the surgery. In fact, my doctor believes that by removing the polyp I was able to get pregnant naturally. I am currently pregnant and am on Lovenox injections daily. (I have one other child that I was able to conceive via IVF. At that time I was not aware of my clotting propensity and went through the pregnancy and C-section with no complications, either...thanks be to God.)

      July 24, 2012 at 12:55 | Report abuse |
  14. buuny sterling

    `here is one for you all I have AT3 with a factor v leiden and now they think that I all so have lupus on top of it I have been on meds now for years doing home PTs and doing ok but for the last 4 years i have gone down hill i am 35 and most days i feel like i am 65 and on top of that I have Osteoarthritis what am i to do now

    October 21, 2009 at 18:49 | Report abuse | Reply
  15. orwah

    I have factor 5 Leiden, and i still have leg pains. Is that OK!!

    January 21, 2010 at 19:14 | Report abuse | Reply
  16. Beth

    orwah – No. Pain is not an accepted norm. Seek medical attention. When you have been cleared of a DVT (seek other solutions) but maintain a healthy Factor V lifestyle including good hydration, no smoking, healthy diet/weight, and consult a hematologist to discuss if what medications you might need (aspirin) or need to avoid (hormones). Also, if you are Factor V positive, you might also be MTHFR positive, which further complicates matters. Perhaps a folic acid supplement will be helpful in preventing issues with hyperhomocysteinemia. Very complex issue – and you need to get answers and a life plan from a knowledgeable, experienced physician.

    Speaking from experience: 39 YO Factor V, MTHFR with pulmonary embolism at 35. Lucky to have a smart physician and hematologist. Lucky to be alive.

    January 26, 2010 at 15:01 | Report abuse | Reply
    • sandra kinch

      Hi Beth I know you posted some months a go But I think that you could offer me some advice!!!
      In april and Dec last year I developed pulmonary embolisms Although the one in Dec was far worse I was very poorly!
      After 6 months of warfarin and clexane I was taken off to have a full blood screening The first one they did was when I was on Warfarin and I came back positive for Factor 5 Leiden then recently i had more blood tests done and tested positive for Factor 5 and MTHFR which has caused a level in my blood to be too high so im currently taking folic acid 5mg to try and bring it back down! I am currently on the contraceptive implant which I have since last year and my specialist has adviced against any hormonal contraceptives????? Which only leaves few options but also adviced that pregnancy could be very dangerous!! (i already have two children so I am not unsettled in that manner) So I feel completely confused as what to do!! I dont really know what im dealing with! And i seem to produce clots randomly with no flights bed rest etc I am curently coughing up blood AGAIN and am awaiting to see a respiratory medicine specialist next week!
      My main concern at the moment is if its dangerous to fall pregnant and dangerous to take contraceptives I feel im stuck in a rut!! Just need some friendly advice and any information u have on these blood things would be greatly appreciated thanks for reading

      September 12, 2011 at 12:58 | Report abuse |
  17. miranda

    i have gene mutation i lost my 6 month unborn child and i want to know does anyone think that the gene mutation had anything to dod with it???

    June 14, 2010 at 18:15 | Report abuse | Reply
    • R

      I am factor V leiden mutated gene present...but luckily my daughter was born normally though i had 2 times miscarriage...in 2007 I had severe DVT with clot in my right lung. I dont know how I got that gene.. This genetic trait is more common of people in Greece, Armenia, southern Europe...Absent in african and pure asian gene.

      June 10, 2013 at 21:20 | Report abuse |
  18. Ruby Jones

    i usually stick to natural birth control methods because i am a christian, natural birth control has no side effects too.*~-

    June 29, 2010 at 00:11 | Report abuse | Reply
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    July 23, 2011 at 00:10 | Report abuse | Reply
  20. Melanie

    I have added a link to your article here in my recent review of Factor V Leiden genetic mutation testing posted on Research Bench. Thank you for raising awareness about FVL, DVT, thrombophilia, etc. There are also FVL awareness organizations on Facebook including Clot Connection and Thrombophilia Awareness Project. Other related review articles may be viewed on Research Bench at: http://researchbench.blogspot.com/2011/08/what-you-should-know-about-factor-v.html .

    August 15, 2011 at 14:35 | Report abuse | Reply
  21. Aldis

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    September 16, 2011 at 13:12 | Report abuse | Reply
  22. dan

    i have factor five i have been on 12 milligrams of warfarin for a year and my legs hurt at night does anyone no how to stop the pain tylenol does not work anymore

    November 22, 2011 at 15:48 | Report abuse | Reply
    • Ray

      I was on Warfarin/Coumadin following blood clots; for me it caused muscle and leg pain to the point that I could get very little sleep. I had to insist that I get off the stuff. It works OK for some people, but not everyone is the same. The hematologist switched me to subcutaneous injections of a Heparin-family drug; very expensive, but no more of the pain. Whatever you're put on, do look at the side effects. I've had at least a few drugs where I was in the small minority for experiencing negative things.

      May 27, 2014 at 11:16 | Report abuse |
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  24. christina

    My niece has both genes for clotting disorder, Her children tested positive, my son has just been tested positive for v leiden 5 could i be a carrier? without having a positive test

    April 11, 2012 at 10:59 | Report abuse | Reply
    • R

      OMG. get tested for blood DNA mapping. They do DNA PCR and will you all detail. I am only gene mutated (heterozygous case) that gives so much health trouble specially in winter....When I first time had DVT with pulmonary emboli in my right lung, they sent me haematoloy Oncologist. I am young, thin, non smoker, no alcohol, physically active..Doctor wanted to know the reason and Mayo Clinic did my DNA mapping and found I am factor V leiden mutation person. I dont know whether daughter is carrying that gene...If I would know before my marriage..I would not marry

      June 10, 2013 at 21:08 | Report abuse |
  25. kenneth russell

    To cnn. I was working on a fishing vessel in may of 2010. I had taken 3 seperate flights to get to dutch harbor alaska. About 9 hours of flight time but i had walked around. As my vessel came to port we headed out to our fishing grounds on the bering sea. I worked the first couple days just fine. May 8th 2010 i woke up late and headed down to the gearroom and had suddenly felt weird. I walked into the restroom and vomited. Looking at it closer i noticed it was blood. I had vomited 3 times all ranging around a quarter to half a cup of blood. I told the captain of the vessel and he passed it off as i was seasick and gave me pills that to date i still have no idea what they were. He waited 10 days before returning to dutch harbor. Once we arrived he sent me home with no medical attention at all. Once i got home to eugene oregon i went straight to riverbend hospital. All they did was check my stool for blood, urine test, and blood test then sent me home. About 3 weeks later my symptoms got worse..

    June 13, 2012 at 17:01 | Report abuse | Reply
  26. kenneth russell

    I ended up at mckinzie hospital 3 weeks later in icu. I had a blood clot in my left and rright lung. Since then i developed slleep apnea memmory loss high blood pressure anxiety depression lupus and some other things. I have a lawyer dealing with my case against the company. But he said he thinks my case is only worth 20000 dollars. But my lost wages arre already over 100000 dollars. My doctors dont want to help me they just accuse me of not taking my pills. Do you have any advice on what i should do. Thank you for your time

    June 13, 2012 at 17:22 | Report abuse | Reply
  27. Donna

    I have the factor five leuiden mutation. I am going thru menopause with drastic day an night sweating. Have been told by dr that I cannot taken hormornes for this as it has risks of blood clotting. What if anything can a wonman do to get thru this. Also have been treated for sleep aptheia. Please help

    July 5, 2012 at 01:07 | Report abuse | Reply
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    July 10, 2012 at 13:49 | Report abuse | Reply
  29. Jessica

    I am 27 yrs old and a single mom of 3 kids who has recently started having a lot of health problems in the last year but recently it has been DVT or a genetic disease and I have been in and out of the hospital multiple times since April. I have seen many doctors and have had every test to man kind done and still no answer on why or what to do. I am on blood thinners but not helping. I have another clot that is in my upper left side by my chest that is causing a lot of discomfort and pain plus hard to breathe. I am so scared that I just may not wake up one day and I am the only thing my kids have. Please help me make since of any of this cause the doctors here can't and I am tired, frustrated, stressed out cause I am losing everything because I stay in the hospital or doctors office more than home.

    July 31, 2012 at 21:04 | Report abuse | Reply
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  32. s.

    Came across this article as I searched for a link between factor v and celiac disease. I happened to find a comment on an an article related to the use of NSAID's which stated that the author, her mother, and a sibling all had celiac and factor v, which is what prompted my further research since my brother and I both have celiac and factor v. Even though this is an old article, I felt the need to share in the hopes that someone might find this information as interesting as I do.

    April 18, 2013 at 22:58 | Report abuse | Reply
  33. R

    I am fr India and I dont know how I got that genetic predisposition. I dont know I got from my mom's or dad's side that gene. Only I know I have that gene and it is very hard to balance life. I am learning to have balanced food (not too much Vitamin K food) .This trait is very common in greece, armenia ( about 10-15 in 100).It is very hard not to get sick. I nevr wanted to live on medicine in my life.

    June 10, 2013 at 21:02 | Report abuse | Reply
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  35. noelene

    I have factor v leiden mutation im on (rivaroxaban)20mg one a day i am finding it hard to give urine output my urine is dark and looks like blood whats causing this and why is it common i am to scared to see gp

    June 20, 2015 at 00:57 | Report abuse | Reply
  36. noelene

    I have dark urine why what to do i have factor v i am on blood thinners rivaroxaban 20mg one a day whats happening why is it hard to pee n why is it dark in colour

    June 20, 2015 at 01:02 | Report abuse | Reply
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