Pure Hypercholesterolemia

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Alternative Names

Type II hyperlipoproteinemia; Hypercholesterolemic xanthomatosis; Low density lipoprotein receptor mutation


Symptoms

Symptoms that may occur include:

  • Fatty skin deposits called xanthomas over the elbows, knees, buttocks, tendons, 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

Signs and tests

A physical examination may reveal fatty skin growths called xanthom...

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