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

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

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

The doctor will ask questions about your personal and family medical history. There may be:

• 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
• High LDL levels
  • Greater than 170-200 mg/dL in children
  • Greater than 220 mg/dL in adults
• Normal level triglycerides

Other tests that may be done include:

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

Images

Xanthoma on the knee

Coronary artery blockage

Xanthoma - close-up

Xanthoma - close-up

Review Date: 05/23/2010
Reviewed By: David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc., and David C. Dugdale, III, MD, Professor of Medicine, Division of General Medicine, Department of Medicine, University of Washington School of Medicine.

A.D.A.M., Inc. is accredited by URAC, also known as the American Accreditation HealthCare Commission (www.urac.org)