Genetic Disease? Isn't she too Old for that?

You know, it never seems to amaze me. I received a phone call from my friend at a very solid academic training program in internal medicine. He said that he saw a patient the other day who had an unusually low Good and Bad Cholesterol, a high triglyceride level and a big liver.

While he was in morning report (This is where doctors present the patients they admit from the night before) he presented this young lady. She was a 30 something year old woman who had a cholesterol level that was off the wall. Normally a premenopausal woman would have an HDL of 50 or 60, maybe even 70. Her LDL (bad cholesterol) would be perhaps 100. If she had familial hypercholesterol levels perhaps even as high as 200. But what he found was just the opposite.

Her good cholesterol was less than 10, her bad cholesterol was 12. Why ever would she have such low cholesterol? Now this is where it gets interesting. He told the "Professors" that he was concerned his patient may have a condition called Tangier's disease, a genetic disease. What ensued was scary. All of these skilled physicians said: "A genetic disease? Isn't she much too old for that?"

Ladies and Gentlemen, this is the current state of medicine. Tangier's disease presents in the 30s and 40s with renal failure, heart attack, stroke. Why? Because it is never detected until it is too late. Even more scary is the fact that a 30 year old woman would not have an internist nor would she have ever had her cholesterol checked!!! But if you read a prior post of mine, it really should be no surprise at all.

The Sherpa Says: It is a new century, we will soon have genome sequencing for less than 1000 USD, and we are not teaching our residents properly. Why? Because the teachers were never taught. In a world where there are less than 100 geneticists trained in adult medicine how will we ever teach our future doctors? What good is you genome if your doctors think it only applies to children? Lastly, There are 7 days left to vote. How much will you pay for your genome.

More on colon cancer.

While preparing to give a lecture on colon cancer for my curriculum study I came across another piece of evidence that should give most patients pause. I hope my readers take this to heart and begin assembling their own family histories. This week in the Journal of General Internal Medicine there is an article surveying patients about their experiences and screening offered for colon cancer prevention. The first survey identified patients with a family history of colon cancer and the second survey evaluated the care they received by their internist. The care was given at a Harvard affiliate! Here's what they found:

1. Only 39% of patients under 50 were asked about family history
2. Only 45% of patients with a significant family history had been screened appropriately
3. Only 46% of patients knew that family history of colon cancer can indicate a need for earlier cancer screening!

These averages might be good in baseball, but we are talking about human life here!

I am sure that with the database options in these new electronic medical records we will see more of our shortcomings. Especially when it comes to genetic care. That is if tracking family history is an option for an EMR. Most programs have woefully inadequate genetic options.

Here's what I will tell these young doctors: You better ask for family history, because the patient will not tell you they are at risk!

Here's what I will tell you: Please take your family's history and give it to the doctor, because they likely won't ask! More importantly, educate yourself about screening at the United States Preventative Services Task Force(USPSTF)