Familial hypercholesterolemia

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

Symptoms that may occur include:

• Fatty, cholesterol-rich skin deposits (xanthomas)
• Cholesterol deposits in the eyelids (xanthelasmas)
• Chest pain (angina) associated with coronary artery disease
• Obesity

Persons with either one or two copies of the defective gene can develop fatty skin deposits over their elbows, knees, buttocks, tendons, and around the cornea of the eye.

A physical examination may reveal fatty skin growths called xanthomas and cholesterol deposits in the eye (corneal arcus).

Other signs include:

• A strong family history of familial hypercholesterolemia or early heart attacks
• High levels of LDL in either or both parents

Individuals from families with a strong history of early heart attacks should have blood tests done to determine lipid levels. Blood tests may show:

• High levels of total cholesterol
  • Greater than 300 mg/dL in adults
  • Greater than 250 mg/dL in children
• LDL greater than 200 mg/dL
• High level of triglycerides

Other tests that may be done include:

• Heart function (stress) test
• Studies of cells called fibroblasts to see how the body absorbs LDL cholesterol
• Genetic test for the defect associated with this condition