Family matters: Inheriting high cholesterol

"What a relief to discover that you have a genetic change that is not your fault."

familial hypercholesteremia: grandfather, father, son grill vegetables

For some people, diet and lifestyle cause high cholesterol. However, for others it is genetic and runs in the family. Called familial hypercholesterolemia (FH), the inherited condition is relatively common and a serious health concern — often leading to early, life-threatening cardiac problems.

“FH is vastly underdiagnosed, affecting one out of every 200 to 500 individuals in the U.S.,” said Gabe Kringlen, M.S., a certified genetic counselor formerly at Sanford Health. “Of those with FH, 90 percent don’t know they have it. However, it is not uncommon for someone with FH to have a heart attack before age 50.”

People with FH generally have higher LDL, or “bad,” cholesterol levels than people without the inherited genetic condition, regardless of their lifestyle choices. That’s because people with FH are unable to regulate LDL cholesterol levels as effectively.

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“When left untreated, a man with FH has a 50 percent chance of a coronary event occurring by age 50. Likewise, a woman with FH has a 30 percent chance of a coronary event occurring by age 60,” said Bethany Tucker, M.S., a certified genetic counselor formerly at Sanford Health. “That is so young, which is why it is essential to find and treat the condition as early as possible.”

FH: ‘Not your fault’

“For those who have FH, no matter how healthy they eat or live, they are going to be greatly at risk of developing coronary artery disease, leading to heart attacks and/or strokes when left untreated. Patients with FH absolutely need some type of medication intervention. There needs to be treatment besides diet and exercise,” Tucker said.

“That can be empowering for patients who have tried and tried, made their best effort, and given it their all, but still they have high cholesterol,” Kringlen said. “What a relief to discover that you have a genetic change that is not your fault. You are not doing anything wrong.”

Caused by genetic change

Someone with FH has had a genetic change since birth resulting in an overall greater exposure to increased LDL levels over their lifetime. The best option for this individual is to get diagnosed and treated. While outcomes are best when diagnosed in childhood, currently most people are not even aware that FH exists or that they could have it.

To be diagnosed, a patient visits with their primary care doctor or can be referred to a genetic counselor. Visiting a genetic counselor includes discussing cholesterol levels, completing a family history and seeing where the person falls within clinical criteria. If he or she seems likely to have FH, genetic testing would be considered or recommended. Typically, genetic testing finds the underlying genetic cause in 60 to 80 percent of patients. For others, the diagnosis is based on clinical criteria.

“Across all specialties and levels, health care is working together as a team to find patients with FH,” Kringlen said. “We know they are out there. They are living in our communities. But, so few of them are being identified and treated compared to the number who have FH. It’s a public health concern, and we are bringing awareness so we are able to identify hopefully many more than the 10 percent of people currently being diagnosed.”

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Posted In Genetics, Health Information, Heart, News

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