Biology, Genetics and Heart Disease

Editor’s note: Today, Mike Smith shares how high cholesterol and heart disease took a toll on his family for generations. Until the day he had a proper diagnosis of familial hypercholesterolemia, and he knew he could manage it.

My story goes back longer than I can remember.  I have a great grandfather and a grandfather on my mother’s side of the family that I never knew.  They both died around the age of fifty, the same age I am now. They were never diagnosed with high cholesterol. They just died of a heart attack.  Of course back then no one was diagnosed with high cholesterol.

My mother and my aunt were diagnosed with high cholesterol since they were born into a generation where understanding the mechanisms behind heart disease were beginning to be understood.  Even then our understanding was quite limited. People were told they needed to diet, exercise and stay away from smoking if they wanted to keep their cholesterol in check.  But that didn’t work for either of them. They did all those things and were being treated, but their cholesterol numbers were still high.

Which led my mother to start hassling me about getting my cholesterol numbers checked.  I understood “hyperlipidemia” ran in my Mom’s side of the family but it was only a 50/50 chance that I’d have it.  I was young, healthy, and didn’t smoke. The likelihood I had high cholesterol was minimal, right?

Luckily, right around that same time I was hired for a job that required a physical so I figured I might as well get my cholesterol checked seeing as I was going to be there anyway.  I didn’t want to miss any work so I scheduled a late afternoon appointment. The doctor thought my request to get my cholesterol tested was unusual, because I was on the young side, under 40.  But I insisted and he told me he’d only call me back if things were high.

Three days later he called.  My total cholesterol was 280, but I shouldn’t be alarmed as my afternoon appointment likely meant I hadn’t fasted.  I had. What about my diet? I’m vegetarian. Exercise? I run marathons.

I knew right then I had familial hypercholesterolemia (FH), even though the term hadn’t been invented yet, but neither I or my doctor understood the impact of that diagnosis.  I was still hoping I could do something homeopathic, without synthetic drugs, to control my cholesterol. Maybe I could just run more, or adjust my diet?

After four years of trying to manipulate the numbers to be in my favor, first without drugs and then with, I ended up sitting down with an FH specialist at Dartmouth-Hitchcock who gave me a proper FH diagnosis and started me on a treatment plan that included prescribed medications that actually controlled my disease.

For the last three years my numbers have fallen in a range that both my doctor and myself can live with, literally.

You see, familial hypercholesterolemia is not like ordinary high cholesterol. It is a condition I had no choice in, it was given to me through my Mom’s genetics.  This is a gift she wishes she had never given me. I have had it since birth and it will require lifelong treatment.

As a biology teacher I understand that there is nothing she could have done any different to change where we are today.  The human system is so unique and complex, yet so simple that thanks to evolution and the mutability of the DNA strand, I hit the jackpot of hypercholesterolemia.

What luck.

And, like my mother before me, I was as generous as she was and passed the gene on to my youngest daughter as well.  My eldest appears to have dodged that bullet. But my youngest and I have a standing date at the end of every August, up in Lebanon with our cardiologist.  We give up some blood, talk diet, exercise and wellbeing with a very competent and friendly doctor and make any necessary changes to medications. We then go and find something interesting to do like hike Mt. Kearsarge or visit King Arthur flour, and we live our lives.

Unlike my grandfather and great grandfather.

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