Factor V Leiden and DVTs: Interview with Elizabeth Varga, MS, CGC

To celebrate DVT Awareness Month, I asked the fabulous Elizabeth Varga for an interview. Liz has factor V Leiden, an inherited blood clotting disorder, and she has worked tirelessly to raise awareness about blood clots and thrombophilias, educating both patients and medical professionals. Liz is also a board-certified genetic counselor at Columbus Children’s Research Institute, where she also develops health promotion programs for the blood clotting disorders community.

Here is the first part of our interview. Stay tuned for more!
1. Can we talk about your personal life first? How did you learn you had factor V Leiden? How did it impact your personal and professional life?
Sure, I am always happy to share my story. My factor V Leiden story actually started with my mom. In 1999, she was traveling and hiking when her leg became painful and red. When she felt her leg, it felt like there was a large rope running down the inside of her thigh. She soon learned she had “superficial thrombophlebitis”; basically a blood clot running through the outer veins in her leg. She didn’t have to have any treatment for this, besides resting and taking pain killers. But when her doctor interviewed her, he learned that her father had had several similar episodes. It was then that he recommended testing for several clotting disorders. A couple weeks later, she learned she was heterozygous (had 1 copy) of the factor V Leiden mutation.
At the time, I was in college, so I didn’t know much about the incident. However, on a visit back home, I met with my family doctor for a checkup and she started to talk to me about the gene found in my mom. She told me that she had a colleague also had factor V Leiden. This woman had had a stroke at the age of 40; it was later learned that her colleague had a hole in her heart (called a patent foramen ovale or PFO) and that a small clot had developed in her leg veins that traveled to her brain.

My doctor also told me about birth control pills and how they could interact with factor V Leiden. She said she would recommend that I discontinue taking the pill if I tested positive. So, I decided to take the genetic test and go from there.

A couple of weeks later, on a Saturday morning that I still remember as clear as day, my doctor called me at home. She told me that the test had come back positive; I was heterozygous for factor V Leiden. She also read me the paragraph summary on the lab report and said that I had a “5-7 fold increase in risk for venous thromboembolism” and talked about the added risk with hormones. She then told me to stop taking the birth control pill.

I did what she suggested and went off the pill. I was glad to know my test result so I could make that decision. But, then I was left with a lot of questions. It was at that point that I really started to wonder “so what is venous thromboembolism anyway?” and “is it really worth all this hassle to lower my risk?”

The way I coped was through reading vigorously…I read everything I could get my hands on. I soon learned a lot more about clots. But I also learned a lot of other things, some that were scary. I found out I might have a harder time with pregnancy someday because there could be a higher risk of pregnancy loss from blood clots in the placenta. I also learned about placental abruption—where the placenta tears away from the uterus during pregnancy, causing bleeding. That’s when it hit me. My mom had something very similar while pregnant with me! I always remember her telling me that she felt she had “had the experience of having a miscarriage”, when they told her that there was no hope and she was going to lose me. Miraculously, hours later, when I still had a heartbeat, they realized I was not going away that easily! In fact, her pregnancy did continue, and although I was born 2 months premature, I did just fine!!!

It was amazing to me to see just how much factor V Leiden explained! It explained not only the episode my mom had in pregnancy, her clot and her dad’s, but as we researched the family history, we learned that other family members, including my mom’s cousins, had had blood clots. Yet, they had never been evaluated for thrombophilia!

During this period, I remember experiencing all different emotions. I was grateful because I knew…I could prevent clots and maybe problems with pregnancy down the road. But I was also a bit scared and bewildered. What would this really mean for me? What would it mean for my younger cousins? Some of them were on the pill…should they be tested?

As fate would have it, I started genetic counseling graduate school only a few months after learning my result. As I went through classes, and learned about all that is involved with genetic counseling, including extensive education and support that is offered pre- and post-testing, I was astounded. Why didn’t I get that kind of education? I had been left to learn so much on my own! I had been left to cope with all of my fears on my own. I had been left with questions about what to tell my family members, who were now turning to me for advice. I was just frustrated, and mad. But I wanted to do something about it!

It was really this experience that made me want to know…was my experience unique? Were other people out there getting testing, but not getting information? How did they “cope” with their test results? Did their results worry them—make them anxious, or was it just me? How well did they understand the implications of their results?

These questions evolved into my research thesis. I surveyed about 170 people with factor V Leiden and asked them about their knowledge, education needs and how testing had impacted their lives from a psychological point of view. The response I got was incredible. People wrote me essays on the back of the questionnaire. They shared their stories (including one who wrote me from her mother’s hospital bedside) and their fears; but they also showed me they were empowered! While many acknowledged that they did not get enough information when diagnosed and some worried more because of their results, overwhelmingly, people told me, they were glad to know! They also wanted their health care providers to know more, and they wanted to be educated themselves.

These results have shaped my entire personal life and my career path. After hearing the voices of so many with thrombophilia, many in desperate need for education about their disorder, I could not help but respond. Dr. Stephan Moll, my collaborator in my thesis research, invited me to come to North Carolina to speak at a patient symposium. We invited all of the respondents to my questionnaire and spent the whole evening teaching them about thrombophilia. Afterwards, people approached us to express their thanks. It felt so good to me to use my knowledge to help someone else. I realized I had something to offer.

From that point on, I have been dedicated to educating patients and families with thrombosis and thrombophilia. I want people to be tested appropriately, and when they are, I want them to understand their results. I want them to be empowered by the information. I want them to be able to prevent blood clots. I want to avoid unnecessary deaths.

I have been fortunate to be able to fulfill this dream by providing genetic counseling, speaking at education seminars for patients and by getting involved with organizations like the National Alliance for Thrombosis and Thrombophilia (NATT). It is incredibly rewarding to be able to assist in the creation of education materials, and to speak with others whose experiences amaze and enlighten me. I am also grateful to be able to assist with DNA Direct, who aspires to create quality education materials for patients with thrombophilia.