Monday, May 19, 2008

Factor Five Leyden - Do I Have it or Not?

Well, bet you have never heard of this one so I won't keep you in suspense. It is the name of a genetic mutation that occurs on one very specific gene and is present in about 5% of the general population although it is predominant in those of us with very English heritages. A week ago my sister wrote that she had two blood clots which precipitated another bout of her colitis (she had severe life threatening ulcerative colitis as a teenager). One of the clots was near her colon, the other her liver. After blood tests, they found that she was positive for this genetic mutation and that it was the cause of these blood clots. So she notified me so that I could get tested as well.

I head to the doctor's today to find if I have the mutated gene as well. It is inherited either from the mother or father (or both). If inherited from only one parent (heterozygous), then you will have an increased tendency to have blood clots although many people go through life with this gene and never know they have it. It makes birth control pills and hormone replacement therapy a very bad idea though. It can also cause some signficant problems with having children including stillbirths and miscarriages. If you get the gene from both parents (homozygous), you can have some very significant troubles and have about 500 fold risk of getting clots. If I do have the gene, then my girls will have to be tested as well. If not, well then the girls don't have to worry!

Just got back from the laboratory where I got my test so now just have to wait for the results. The doctor said that he had several patients with this and definitely I should have the lab tests. He said about half the patients were on Coumadin and the other half weren't. As I have had no clots (seems this gene causes clots in the veins rather than arteries where most strokes occur), I probably won't have to have a preventive therapy. I will have to be careful about sitting for long periods of time (like on an airplane or in a car). I guess there is some greater risk at high altitudes as well. He said it is just important to keep the blood moving! Fortunately my Internist also has a specialty in hematology so it was "one stop shopping".

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