Is Cholesterol a Matter of Fate?


How many of us know our cholesterol level? Being aware of this number and taking action if necessary to lower it can save lives.

What's your number?

Almost all of us know our phone number or Social Security number. Many of us can order online without having to look at our credit cards.

But how many of us know our cholesterol level?

Knowing this number and taking action if necessary to lower it can save lives, especially among those with familial hypercholesterolemia (FH), a high-cholesterol condition that occurs with higher frequency among those of Ashkenazi Jewish descent.

Dr. Adele Schneider, director of clinical genetics at Einstein Medical Center of Phila­delphia, explains: “There appears to be a specific alteration in the LDLR” — low density lipoprotein receptor —”gene in the Ashkenazi population, and it was traced to Lithu­anian ancestry.”

Ashkenazi Jews “with the same mutation” were also found “living in Israel, South Africa, Russia, the Netherlands, and the United States. The carrier rate is around 1 in 70.

“This is a dominant gene, so if a parent has the gene, there is a 50-50 chance of passing it on with each pregnancy,” she says.

This condition can take two forms: mono- and heterozygous FH, with the latter occurring more often: one in about 500 patients, says Dr. Marc Schwartz, clinical associate professor at Thomas Jefferson University.

Monozygous FH, the considerably more serious condition of the two, results from both parents carrying the gene, and requires much more intensive treat­ment, such as apheresis, a procedure by which cholesterol is filtered out of the blood in a fashion similar to kidney dialysis.

Dr. Howard Eisen, chief of the Division of Cardiology/ Thomas J. Vischer Professor of Medicine, Drexel University College of Medicine — and past president/current governor of the American Heart Association of Southeastern Pennsylvania — notes some new developments in treatment of monozygous FH, which include medications and injections, but this condition is far more resistant to treatment than the heterozygous type.

The cholesterol level of patients with heterozygous FH, says Schwartz, does not differ greatly from that of patients whose hypercholesterolemia doesn’t have genetic factors, and is typically in the 280-290 range.

However, FH patients of either kind, both Schwartz and Eisen agree, inevitably need medication, most commonly, statins.

While statins are not without some side effects — Eisen cites muscle cramping, for example, or, in some female patients, mental confusion — the benefits outweigh the risks.

Dr. Gregg Pressman, cardiologist at Einstein Medical Center, adds, “As a class, these drugs are extremely safe and effective. They have been proven to reduce the chances of a heart attack or stroke, and have very minimal serious side effects. At this time, they are by far the best therapy available to treat” — and possibly prevent — atherosclerosis, blocked arteries.

All the doctors interviewed agreed on a key point: the need to be screened for FH, especially those with a family history of premature coronary artery disease.

Indeed, with the high-fat, high-cholesterol food that has become the staple of the American diet, patients should be tested as early as their teen years, Schwartz says, and even younger with a family history of FH.

Schneider also advises a visit to a genetic counselor. “My advice would be to talk to all family members about testing and have them talk to a genetic counselor who can discuss the risks and benefits of gene tests.”

She stresses, though that, “even without gene testing, high cholesterol should be seen as an indication to test the whole family.”

For patients with FH, time is critical. “The longer arteries are exposed to risk factors, the greater the chance of plaque build up,” she says.

And for FH patients, cholesterol has been building from birth and is not being broken down as readily as in those without FH. Fortunately, she says, “awareness is increasing, although the condition is still underdiagnosed, and many patients don’t consult a doctor until they are symptomatic.”

Thanks to the efforts of organizations such as the American Heart Association, patients are more informed of risks. Eisen points out that “the frequency of heart attacks has declined” over the years and that “we’d have many more heart attacks” without the increased public awareness of heart disease.

Marlene Etkowicz, a critical care nurse at Holy Redeemer Hospital with a master’s degree in public health, serves as a lecturer on the speakers’ bureau of the American Heart Association. She has made prevention and education her mission.

Her commitment is personal as well as professional: Several years after her brother-in-law’s death from a heart attack at age 50, two of his three sons were diagnosed with FH.

Says Etkowicz,”For those who get it,” and realize a need to take preventive measures,“it changes their lives.”


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