Familial hypercholesterolemia affects the way the body processes cholesterol. As a result, people with familial hypercholesterolemia have a higher risk of heart disease and a greater risk of early heart attack.
The genetic changes that cause familial hypercholesterolemia are inherited. The condition is present from birth, but symptoms may not appear until adulthood.
People who inherit the condition from both parents usually develop symptoms in childhood. If this rare and more severe variety is left untreated, death often occurs before age 20.
Treatments for both types of familial hypercholesterolemia include a variety of medications and healthy-lifestyle behaviors.
Adults and children who have familial hypercholesterolemia have very high levels of low-density lipoprotein (LDL) cholesterol in their blood. LDL cholesterol is known as "bad" cholesterol because it can build up in the walls of the arteries, making them hard and narrow.
This excess cholesterol is sometimes deposited in certain portions of the skin, some tendons and around the iris of the eyes:
- Skin. The most common spots for cholesterol deposits to occur is on the hands, elbows and knees. They also can occur in the skin around the eyes.
- Tendons. Cholesterol deposits may thicken the Achilles tendon, along with some tendons in the hands.
- Eyes. High cholesterol levels can cause corneal arcus, a white or gray ring around the iris of the eye. This happens most commonly in older people, but it can occur in younger people who have familial hypercholesterolemia.
Familial hypercholesterolemia is caused by a gene alteration that's passed down from one or both parents. People who have this condition are born with it. This change prevents the body from ridding itself of the type of cholesterol that can build up in the arteries and cause heart disease.
The risk of familial hypercholesterolemia is higher if one or both of your parents have the gene alteration that causes it. Most people who have the condition receive one affected gene. But in rare cases, a child can get the affected gene from both parents. This can cause a more severe form of the condition.
Familial hypercholesterolemia may be more common in certain populations, including:
- Ashkenazi Jews
- Some Lebanese groups
- French Canadians
People who have familial hypercholesterolemia have a higher risk of heart disease and death at a younger age. Heart attacks may occur before age 50 in men and age 60 in women. The rarer and more severe variety of the condition, if undiagnosed or untreated, can cause death before age 20.