For people with familial hypercholesterolemia, sometimes even an extremely healthy diet and lifestyle can’t combat low-density lipoprotein or “bad” cholesterol.
Having LDL cholesterol in the arteries may cause clogging of the artery walls and an increased risk of heart attacks and stroke. Familial hypercholesterolemia (FH) is a common genetic disorder, and the gene that causes it is dominant, meaning anyone who inherits the gene will have FH.
“People understand the connection between diet and cholesterol,” Mary P. McGowan, MD, a lipid specialist with Dartmouth-Hitchcock said in a news release. “If you eat foods that are rich in saturated fat, cholesterol and calories, your cholesterol is likely to go up. And it’s true that a poor diet does cause a person’s cholesterol to go up.
“But how do you explain a heart attack in a lean 33-year-old marathon runner who eats a vegan diet, or a 10-year-old with dangerously high LDL cholesterol levels? This is why understanding the risk of FH is so important, both for the individual and for any children they have or will have.”
Dartmouth-Hitchcock Health officials said it is one of the first health systems in the United States to use a screening model known as FIND FH (Flag, Identify, Network and Deliver) to identify individuals at high genetic risk for cardiovascular disease.
The model was developed by the FH Foundation and leverages data from places such as a hospital’s electronic health record system to flag individuals with probable FH.
“Individuals with familial hypercholesterolemia are at a 20-times higher risk for cardiovascular disease early in life,” Katherine Wilemon, founder and chief executive officer of the FH Foundation, said in the news release. “Due to a lack of awareness and inadequate diagnosis of this genetic condition, these individuals are hiding in plain sight, often going decades without receiving the proper care.”
McGowan suggests considering the following factors and prevention measures:
Family background: In certain populations, FH is especially common. In northern New England, it is estimated that 1 in 180 people have FH. This is caused by something called a “founder effect,” due to the high frequency of FH in French-Canadians who came to northern New England to work in the mills. New Hampshire continues to have a significant Franco-American population, particularly in northern and northeastern New Hampshire.
Be proactive: FH can be diagnosed with a simple lipid (cholesterol) profile done through a blood test. Once FH is diagnosed, it can be treated, and other family members can be screened. When people are diagnosed with FH, they’re also connected with other people with the disorder who can provide support and education.
Childhood screening: The American Academy of Pediatrics recommends screening children from families with early heart disease or known FH beginning at age 2 with a non-fasting lipid profile and recommends universal screening of all children from 9 to 11 and again from 17 to 21.
Treat your FH: While a healthy diet and exercise help, people with FH need medications to lower their cholesterol to a normal range. Many medications for FH are available.
Studies from the Netherlands show that when started in childhood, statins — a class of drugs that can lower cholesterol — virtually eliminate early heart attacks and death.
The New England Journal of Medicine published a 20-year follow-up study of people with FH who began statins as children compared to their parents who did not. The study found that only 1% of those who started on statins as children had suffered a cardiac event by age 39, compared to 26% of their parents.
None of the people who began statins as children had died by age 39, compared to 7% of their parents.
“The bottom line: Be proactive,” McGowan said in the news release. “Ask for a lipid profile for you and your children. If you have FH, get treatment and make sure your family gets screened.”