Our Genetics - Why are they important?

“I was in Great Health. So Why Were My Arteries Clogged?”

For those that haven’t read this article in The Wall Street Journal, the author’s cardiac scare is not all too rare. It’s one of the reasons I joined Dr. Arthur Agatston to build a healthy aging preventive care program.

To summarize, the author, Joe Moore, is an athletic 65 year old that established care with a primary care physician. His calcium score was soon discovered to be over 2000, shockingly identifying old plaques in his heart despite his healthy habits. The essay discusses his tumultuous journey thereafter: a cardiac catheterization, a repeat (rising) calcium score, and misdiagnosis of sitosterolemia (hyper-absorbers of cholesterol that worsens plaque). His case, including diagnosis of the plaque later in life, is not all that uncommon.

Conditions such as sitosterolemia are very rare (<1/50,000), but genetic predisposition to subclinical heart disease (whether ABCG5 -sitosterolemia- or variants LIPC, LPA, FH, SRB1, to name a few) is incredibly important. These genetic predispositions, in addition to classic cholesterol abnormalities (LDL, HDL, triglycerides), can increase the risk of vascular disease (heart attack and stroke) at later age. Some people have the inverse - protective genes - despite abnormal cholesterol.

A robust healthy aging program should address cardiometabolic disease prevention inclusive of the spectrum of genetics, advanced new diagnostics, novel technology, and guideline-driven primary care.

Dr. Agatston has an excellent talk on genetic predisposition to cardiovascular disease with GBinsight: “Solving Clinical Dilemmas using Genetic Testing”: