Your lab results come back, and your “bad” cholesterol (more formally known as low-density lipoprotein, or LDL, cholesterol), is too high, which raises your risk for heart disease, heart attack and stroke.
Does that mean you ate too much red meat, hot dogs and butter, sending your LDL soaring? Not necessarily.
Some people have a genetic condition called familial hypercholesterolemia that makes it impossible to manage cholesterol without medication.
“Familial hypercholesterolemia is an inherited form of high cholesterol, which means that because of an inherited gene variation, your body can’t clear cholesterol the way it should,” says UNC Health genetic counselor Julianne O’Daniel. “You can be incredibly active and fit, but if you have a variation in one of these genes, your body is building up bad cholesterol, leading to a significant increase in early onset heart disease and heart attack.”
This sounds scary, but O’Daniel and UNC Health endocrinologist and lipidologist Michael Porter, DO, say that there are easy ways to find out if you have this condition and need treatment.
Types of Familial Hypercholesterolemia
Familial hypercholesterolemia is caused by a variation (also called a mutation) in one of four genes that clear cholesterol from your arteries. Each parent gives you one version of each gene.
If you inherit one altered gene from both of your parents, you have homozygous FH.
“This version is very rare and needs significant treatment from infancy,” O’Daniel says.
What’s more common is heterozygous FH, meaning that one parent gave you an altered gene that can’t clear cholesterol and one parent gave you a normal, working version of the same gene. About 1 in 250 people have heterozygous FH.
The working version of the gene does its best, but without its partner, it’s working at decreased efficiency, and that shows up in your body with each passing year.
“Cholesterol has a cumulative effect, so the longer someone goes without knowing about this, the more years of exposure to high cholesterol they will have,” Dr. Porter says. “Having elevated cholesterol increases your risk for heart attack and stroke. Early diagnosis and treatment is important.”
Testing for Familial Hypercholesterolemia
Getting recommended screenings is important because your body doesn’t warn you when bad cholesterol is accumulating before a heart attack or stroke.
“Most people do not have any physical symptoms,” Dr. Porter says. “When people don’t have regular physicals or wellness visits, they could go many years without knowing they have high cholesterol.”
Adults should have a cholesterol screening every five years, but depending on other risk factors for cardiovascular disease, such as family history, age or health status, your primary care provider may recommend more frequent testing.
And while you probably don’t think of high cholesterol as a concern for kids, some will have it. Medical organizations including the American Heart Association and the American Academy of Pediatrics recommend that children are screened for high cholesterol between the ages of 9 and 11 and once again between the ages of 17 and 21.
One screening that shows high cholesterol doesn’t mean your child has familial hypercholesterolemia, but it will be useful information to consider as they age.
If you or your child begin to have elevated cholesterol readings at a young age and you know you have a family history of high cholesterol, ask your primary care provider about whether you should have a genetic test for FH.
For people considered to be at high risk based on family history and screenings, a familial hypercholesterolemia test (usually done by an additional blood draw) typically costs less than $100 with insurance.
You may need to ask your provider about this genetic test, especially if they don’t treat your family members and may not know your family history.
“Many people have been taking cholesterol medications for years but may not be aware that it could be FH,” O’Daniel says. “When one person in a family is diagnosed with FH, it can identify a whole branch of the family tree that could be at risk.”
If your test is positive, your close relatives—siblings, parents, children—should also be tested.
Treatment for Familial Hypercholesterolemia
While it might seem daunting to learn that you have a gene variant that puts you at increased risk for heart attack and stroke, rest assured that it’s better to know than not know.
“Once you find out about your risk, you can be proactive, which many people can find empowering,” O’Daniel says.
The goal is to prevent problems in the future, Dr. Porter adds. “With heterozygous FH, treatment is about reducing your long-term risk of cardiovascular disease.”
You and your doctor will create a plan for increased screenings, and you’ll probably start taking a medication to keep your cholesterol under control. The most common medication is a statin (a pill), but there are some non-statin medications that are also used, such as a class of injectable medications called PCSK9 inhibitors.
“Statins are the most studied of all lipid-lowering medications out there,” Dr. Porter says. “Statins are generally safe for long-term use. The risk of untreated high cholesterol far exceeds the risk of long-term statin use.”
In addition to taking a statin, it’s important to continue with healthy lifestyle habits—eating a balanced diet, exercising, getting quality sleep, managing stress and avoiding smoking and heavy alcohol use—to control other risk factors for heart attack and stroke.
“Cholesterol is one piece of the puzzle of your cardiovascular risk, and medication can help to control that,” Dr. Porter says. “Other contributing factors important to manage include your blood sugar, blood pressure and weight.”
Your primary care provider will partner with you to stay healthy, so if you don’t have one, take the time to pick one out now.
“Awareness is the biggest thing, so routine primary care with regular cholesterol screening is the most important part of this,” Dr. Porter says.
If it’s been a while since your last cholesterol screening, talk to your doctor. If you need a doctor, find one near you.The post Consider Testing for Genetic High Cholesterol first appeared on UNC Health Talk.
