Familial hypercholesterolemia is a disorder that is passed down through families. It causes LDL (bad) cholesterol level to be very high. The condition begins at birth and can cause heart attacks at an early age.
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Causes
Familial hypercholesterolemia is a genetic disorder. It is caused by a gene variant on chromosome 19.
The defect makes the body unable to remove low density lipoprotein (LDL, or bad) cholesterol from the blood. This results in a high level of LDL in the blood. This makes you more likely to have narrowing of the arteries from atherosclerosis at an early age. The condition is typically passed down through families in an autosomal dominant manner. That means you only need to get the abnormal gene from one parent in order to inherit the disease.
In rare cases, a child may inherit the gene from both parents. When this occurs, the increase in cholesterol level is much more severe. The risk for heart attacks and heart disease are high, even in childhood.
Symptoms
In the early years there may be no symptoms.
Symptoms that may occur include:
- Fatty skin deposits called xanthomas over parts of the hands, elbows, knees, ankles and around the cornea of the eye
- Cholesterol deposits in the eyelids (xanthelasmas)
- Chest pain (angina) or other signs of coronary artery disease may be present at a young age
- Cramping of one or both calves when walking
- Sores on the toes that do not heal