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School of Medicine
What to Do When High Cholesterol Runs in Your Family
Understanding Familial Hypercholesterolemia (FH)
Because high cholesterol doesn’t have any symptoms, it’s not something that’s commonly on people’s radar. Even if it is, people often don’t take it seriously — until they have a heart attack or stroke. And while we tend to think of those events as happening to an older population, people under the age of 55 can also be affected, especially if they were born with high cholesterol.
This condition is called familial hypercholesterolemia (FH). FH occurs because of a genetic defect on chromosome 19. It’s an inherited disorder that makes it harder for your body to remove LDL or “bad” cholesterol from your blood. The result? From childhood, cholesterol builds up along the walls of your arteries and veins, narrowing the passageways and drastically increasing your risk of heart attack or stroke at a very early age.
Who is most at risk for FH?
Familial hypercholesterolemia can affect anyone whose family carries the genetic mutation. However, it’s found more frequently in those who are of French Canadian, Ashkenazi Jewish, Lebanese or Afrikaner (a South African ethnic group) descent.
The biggest problem with FH is that more than 90 percent of people who have it haven’t been diagnosed, which means you should pay careful attention to your family history, says Seth Martin, M.D., M.H.S., assistant professor of medicine at the Johns Hopkins University School of Medicine and co-director of the Advanced Lipid Disorders Center.
“If people in your family have had heart attacks, needed stents or had bypass surgery earlier in life — before age 55 in men and before 65 in women — those are signals that there’s something causing your family to be at higher risk for heart disease,” he explains. “It could be due to having familial hypercholesterolemia.”
What are early signs of FH?
When you have FH, early detection of high cholesterol levels is key to getting the treatment that can lower your risk of cardiovascular disease. In addition to family history of early cardiovascular problems, you may also notice lumps forming under your skin.
These fatty deposits are called xanthomas, and are particularly noticeable around tendons in the hands, knees, Achilles tendons and elbows, and under the skin around your eyes. Sometimes an ophthalmologist may spot signs of cholesterol deposits in your eyes as well.
Whether or not you have obvious signs of high cholesterol, you should get checked if heart disease runs in your family. Talk to your family doctor about your concerns; a simple blood test is all it takes to see if your cholesterol levels are in the healthy range. A high cholesterol level at a young age is a particular red flag that you may have FH. If your doctor suspects you have the condition, you can undergo genetic testing to confirm the diagnosis.
Are there any treatments for high cholesterol levels caused by genetics?
Usually, the first line of treatment for high cholesterol is lifestyle modification, but if you have FH you’ll need more advanced treatment. “It’s always important to eat a low-fat diet, exercise and control your weight. Having a healthy lifestyle is crucial for heart health and for overall health,” says Martin. “However, people with FH could eat an extremely low-fat diet and still not be able to control their cholesterol because they’re genetically unable to handle it. For them, cholesterol is going to build up in the bloodstream regardless of what they eat.”
Fortunately, there are medications that can substantially lower LDL cholesterol levels. The most common treatment for FH is statin drug therapy. Statin drugs work by blocking an enzyme that produces cholesterol in the liver and increases your body’s ability to remove cholesterol from the blood. They can lower your LDL cholesterol levels by 50 percent or more. Statins have been safely used to reduce the risk of heart disease for 30 years and continue to be the number one option when it comes to helping people with FH.
Other treatment options include medications that block cholesterol from being absorbed from your intestines into your bloodstream, or drugs that block an enzyme called PCSK9, which reduces the amount of LDL cholesterol in your blood.
In the most severe FH cases — typically when you inherited the FH genetic trait from both parents — LDL apheresis may be used as well. During this procedure, your blood is run through a machine that removes bad cholesterol and puts the “cleaned” blood back into your body. This is done multiple times a month to keep your cholesterol levels in check.
Can I pass FH to my kids?
If you inherited FH from one parent, there’s a 50 percent chance you’ll pass it on to your children. If both of your parents passed the FH trait to you, your children will definitely have FH. That’s why it’s crucial to get children with a family history tested at an early age and begin cholesterol-reducing treatment for those with FH.
“People with FH are usually not diagnosed until their 30s or 40s or later. Unfortunately, far too few are diagnosed as children. But early treatment can significantly impact a person’s lifetime cardiovascular health by lowering their long-term exposure to high cholesterol levels,” Martin advises. “The treatment keeps their arteries healthier and prevents premature heart attacks and strokes.”