familial hypercholesterolemia

Familial hypercholesterolemia is an inherited disease that causes high cholesterol levels.

 

Normally, the liver regulates the amount of cholesterol, a kind of fat, in the blood. It uses special docking sites, or receptors, to remove extra cholesterol. A person with familial hypercholesterolemia inherits an abnormal gene for the docking site from one or both parents.

 

If an abnormal gene is inherited from one parent, the body makes only half of the usual number of docking sites. If the abnormal gene is inherited from both parents, the body makes no docking sites. In either case, the level of cholesterol gets too high in the blood. This can lead to heart attacks, strokes, and other diseases.

 

One of the primary health dangers with high cholesterol of any cause is that there are often no obvious symptoms of the condition before the development of coronary artery disease.

 

Because of the very high cholesterol levels, however, many people with this familial condition develop cholesterol deposits in the skin. These are often seen on the:

 

This disease is inherited and occurs in about 1 in 1000 people. The chance of inheriting two bad genes, one from each parent, is 1 in 1,000,000.

An inherited trait cannot be prevented. Genetic counseling may be useful to couples with a family history of the disease.

This disease is diagnosed by a blood test and family history. Cholesterol levels are high at birth and increase with age. The average total cholesterol with one abnormal gene is usually 250 to 500 milligrams per deciliter of blood (mg/dl). With two abnormal genes, the average cholesterol level is 500 to 1000 mg/dl. Levels over 200 mg/dl are associated with a higher risk of heart attacks, strokes, and other diseases.