What is Familial Hypercholesterolemia?

Familial hypercholesterolemia is an inherited genetic disorder. People with this condition have increased levels of cholesterol from birth. Due to the high levels of cholesterol it leads to the hardening of arteries. Thereby, posing a risk for heart disease.

Causes and Symptoms of Familial Hypercholesterolemia


People with this disorder show deficiency of LDL receptor producing gene. This LDL receptor binds to LDL particles and eliminates them from the body. As these individuals are deficient for this receptor, they cannot eliminate LDL out of the body. Thereby, posing a risk for higher levels of bad cholesterol in the body. This excess LDL present in the body starts accumulating in the arteries leading to early heart disease.


  • Excess cholesterol tends to deposit on the tendons of hands, eyes, elbows and knees. Mostly it deposits on the tendons of eyes and these look like white streaks on the skin.
  • This condition shows symptoms of heart disease. Chest pain and narrowing of arteries are the most common signs of heart attack.
  • Symptoms of atherosclerosis begins from childhood itself.

Treatment for Familial Hypercholesterolemia

The most common treatments include:


This is the first choice for lowering cholesterol levels. These drugs play an important role in reducing the production of LDL by the liver. These drugs lower LDL levels by 50%. Dosage are given according to the persons ability to tolerate the drug.


It is a cholesterol absorption inhibitor. It is generally recommended if statin treatment is not effective or if side effects occur. It is taken once in a day. A combination of statins and ezetimibe is effective.

Other Ways to Lower Cholesterol

Other ways include:

  • Diet: A diet that is low in saturated fat and sugars is suggested. Green leafy vegetables, fruits, whole grains, fish, olive oil and fiber rich foods should be included in the diet.
  • Avoid smoking.


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