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Deep Vein Thrombosis, Factor V Leiden & Protein Gene Mutation
Despina Nicholas Brosnihan's Story
In February 2013, I considered myself the picture of health. Though forty-eight years of age, I felt that I was doing all of the right things. I was thin, ate a healthy Mediterranean diet, didn't smoke and exercised 4-5 times per week. In fact, I had even recently commented to my husband that I felt better than I had a decade earlier. Little did I know that I was soon to experience the biggest health crisis of my life.
For about a week, I felt a soreness in my left buttock radiating to my left thigh - no pain, just a feeling of slight bruising. I assumed that I had strained a muscle running or was developing a very mild sciatica. Again, there was no pain, just a general soreness. I continued to exercise, running 5 km every couple days and spinning in between. Suddenly, I noticed a very slight swelling in my left leg. My thigh felt flushed with blood and enormous, though the swelling was barely perceptible to others. My husband insisted I visit the ER and I reluctantly agreed. I felt it ridiculous to tie up medical personnel for a slightly swollen leg. Upon my arrival at the ER, an ultrasound of my leg was performed and I was diagnosed with a massive, potentially life threatening DVT. Within the hour, I was transported to another local hospital where catheter directed thrombolysis was later performed. I am now on a lifelong regimen of Coumadin and aspirin.
It is important to note that I do have two genetic clotting disorders. Factor V Leiden (homozygous) and Prothrombin gene mutation. These disorders put me at a higher risk for developing a blood clot than the average person. However, until this episode I had never experienced a blood clot in my life. I had three healthy pregnancies and deliveries, traveled by air extensively, etc., all without incident.
Advice to others:
- Don't assume your physical conditioning exempts you from developing a blood clot.
- Pay attention to any changes in your lower extremities, even if you feel no pain.
- If you have DVT in your family, consider getting tested for genetic clotting disorders.
- If you do have a clotting disorder, talk to your hematologist about preventative measures.
Editor's Note
There are two additional considerations that the reader should be aware of regarding this patient's story:
The use of aspirin (and other drugs that act in a similar manner to reduce the risk of clots) in combination with warfarin is something that should be carefully considered by a patient's own physician. While there are some reasons to use both agents together, the combined use increases the risk of bleeding which may occur in the stomach and intestines or a number of other locations in the body. One recent study in thousands of patients found that taking aspirin with warfarin was associated with an 80% increase in the risk of bleeding into the head (which may lead to a stroke that can be life-threatening). Ref: Hart RG, et al. Stroke 2012; 43:1511-1517.
Despina has two hypercoagulable conditions. A hypercoagulable condition is a condition that increases the risk of blood clotting. Factor V Leiden (where "V" is the Roman numeral for 5) and Prothrombin Gene mutation are hypercoagulable conditions. The Factor V Leiden is also referred to as "activated protein C resistance" and Prothrombin Gene mutation is referred to as "mutant Factor II". For unclear reasons, patients with one hypercoagulable condition have a higher than average risk of having a second hypercoagulable condition. Also, because these 2 (but not all) hypercoagulable conditions are inherited; individuals who have blood relatives with blood clots and/or one of these conditions should realize that they may be at risk of having one of these conditions. Whether children of parents with hypercoagulable conditions should be evaluated is a controversial issue that should be discussed with a blood specialist (hematologist) and, perhaps, someone who can advise the patient on the potential risk of "labeling" any of the children with such a diagnosis (which may affect their ability to secure health and/or life insurance).
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