Familial Hypercholesterolemia

(FH)

Definition

Familial hypercholesterolemia (FH) is an inherited condition. It causes high levels of total cholesterol. It also increases levels of low density lipoprotein (LDL), or bad cholesterol. These high cholesterol levels increase a person’s risk for developing heart disease.

Causes

The liver removes LDL cholesterol from the blood. It does this by making receptors that attach to LDL cholesterol. With FH, there are problems with the receptors. There may be too few receptors, or they may not work as they should.
The Liver and Other Organs
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These problems are caused by a gene mutation. FH may be inherited from one or both parents. If inherited from both parents, the condition is severe. Heart disease and heart attacks can occur at a young age. People with a severe form of this condition usually die at a young age.

Risk Factors

If one of your parents has the gene mutation for FH, you are at higher risk for the condition. If both your parents have the gene mutation, you have an even higher chance of having the condition.

Symptoms

FH increases the risk of developing atherosclerosis at a young age. This is the hardening of arteries from plaque build-up. The build-up of plaque can also cause:
  • Thick and painful tendons, especially the Achilles tendon.
  • Xanthomas—fatty deposits beneath the skin most commonly found on the elbows, joints, tendons, knees, hands, feet, and buttocks
  • Xanthelasmas—fatty deposits on the eyelids
  • Eye problems—fatty deposits on the cornea
Hardening of the arteries can lead to:

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