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. low-density lipoprotein (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.