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November 19, 2010 -- 8:50am EST

The Gene of Damocles -- Assessing Heart Disease Risk
Sword of DamoclesA study from the Mayo Clinic presented at this week's American Heart Association Scientific Sessions in Chicago caught my eye. Researchers looked at the medical records of 1,262 people who had no history of heart disease. Using the standard Framingham Risk Score (FRS) which factors in age, sex, cholesterol levels, blood pressure, diabetes and smoking status, they calculated the ten-year probability of heart attack.

They then performed genetic tests on these patients' existing blood samples to find if any of 11 genetic variants were present. Called single-nucleotide polymorphisms (SNPs) these variants have been found to be potential risk factors for heart attack.

As a result, about one-third of the patients wound up being reclassified to a higher or lower risk category. Genetic information was used to alter the standard FRS.

There's been much ado about adding new types of risk factor information to the Framingham formula: the SHAPE guidelines, for one, claim that a Calcium score, derived from a non-contrast CT scan, should be incorporated.

Of course, the point of determining patients' risk factors for heart disease is to help them modify the risk factors that are under their control -- like stopping smoking, exercising more, etc. and also possibly starting certain courses of medication, such as statins.

But the Mayo study reminded me of the "Sword of Damocles" -- a story related by the ancient Roman Cicero about a courtier Damocles who was given great fortune by being allowed to trade places with his king, except that a sword was positioned over the throne he sat on, suspended by a single strand of hair. Damocles soon gave up his new-found fortune, one moral of the story being: "There can be nothing happy for the person over whom some fear always looms".

Studies have shown that stress is certainly a factor in heart disease. So, if one discovers that his or her genes are putting them at higher risk for a heart attack, a situation that really can't be altered, won't the negative stress from that knowledge be a Damocles' Sword and multiply the genetic risk factor's effect? I mean, sure, it might be motivational to get one to stop smoking, eat better, exercise more. But shouldn't we all be doing that anyway?

Just sayin'....

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