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Cholesterol testing recommended for all, says Stanford cardiologist

veins-665093_1920When he was in his early 20s, Don Draper had the foresight to have his cholesterol tested. The numbers that came back were astronomical, with his low-density lipoprotein (LDL), the so-called “bad cholesterol” registering at 385 mg/dl, he says. The recommended LDL level is less than 100 mg/dl. Draper went on cholesterol-lowering medication, which helped to some extent.

Draper's cholesterol wasn't sky high because he had been eating liver-bacon-cheese-and-egg sandwiches every day. As a Stanford analysis later confirmed, Draper was born with a gene that leads to unusually high LDL. People with the disease, known as familial hypercholesterolemia (FH), are unable to clear LDL from the circulation so it builds up in the arteries and can ultimately block blood flow to the heart, if left untreated.

There may be as many as 1.5 million people in the United States who carry the gene, yet many remain unaware of it because they may not have any symptoms, according to Stanford cardiologist Joshua Knowles, MD, an FH expert and the chief medical advisor to the nonprofit FH Foundation. And many don’t learn about it until they have a heart attack: FH is thought to be the cause for 17,500 heart attacks each year among people under the age of 60 in the United States, Knowles told me.

“If you get to people early and treat them early enough, they may be able to avoid serious problems,” he said.

Last Saturday was FH Awareness Day, and those in the field are using the opportunity to urge people to get cholesterol testing and to know their status before they suffer a major event.

“Simply getting a blood test to measure the level of cholesterol is the number one thing that people should do,” said Draper, a 69-year-old engineer. “If you don’t get tested, you won’t know until you get heart disease. So how do you want to find out?”

He says he was fortunate he became aware of his risks early on. “I never suspected I had anything like this. I was just interested in getting an analysis, so I was lucky enough to learn early on and to get it on a study. I got a very good understanding of my condition.”

In the late 1980s, he participated in a clinical study in which doctors did an angiogram of his heart, threading a catheter from his thigh up to the heart to measure the plaque around his coronary arteries. Though he’d never had symptoms of heart disease, the test did show a build-up of arterial plaque, he says. His doctor also observed another telltale sign of FH – a xanthoma, or plaque-laden deposit on his Achilles tendon.

Draper began taking statin drugs, the mainstay of treatment, and an angiogram two years later showed a slight reduction in arterial plaque. Still, his cholesterol levels never quite reached the recommended threshold. In May, he began taking a new, injectable medication, part of a newer class of drugs known as PCSK9 inhibitors. The results, he says, have been “miraculous,” as his LDL plummeted to 32 mg/dl, finally in an acceptable range for someone with his condition.

Over time, he discovered the FH gene was common in his family, as a parent has a 50 percent chance of passing it along to a child. His father was a carrier, as are two of his four sons, he says. So is his sister and her two children.

Knowles urges people to know their family history, as it may prove to be a clue to their own cholesterol status. He also encourages people found to have FH to sign up for a national online registry maintained by the FH Foundation. The registry, which now includes over 3,000 people, is used by researchers to better understand the condition and the patient experience and to improve treatments.

Previously: Familial hypercholesterolemia: A genetic disease in need of early testingPrecision health in action — The hunt for families with a high-cholesterol disorder and Born with high cholesterol
Image by geralt

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