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Dr. Miller’s Bio | Q&A Archive
Type II hyperlipoproteinemia; Hypercholesterolemic xanthomatosis; Low density lipoprotein receptor mutation
Symptoms that may occur include:
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:
Individuals from families with a strong history of early heart attacks should have blood tests done to determine lipid levels. Blood tests may show:
Other tests that may be done include:
Gaziano M, Manson JE, Ridker PM. Primary and secondary prevention of coronary heart disease. In: Libby P, Bonow RO, Mann DL, Zipes DP, eds. Braunwald's Heart Disease: A Textbook of Cardiovascular Medicine. 8th ed. Philadelphia, Pa: Saunders Elsevier; 2007:chap 45.