Info
Symptoms of familial hypercholesterolemia
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.
Causes
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.