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

A diet low in cholesterol and saturated fat and rich in unsaturated fat diet may help to control LDL levels.

Counseling is an option for those who have a family history of this condition, particularly if both parents carry the defective gene.

Genest J, Libby P. Lipoprotein disorders and cardiovascular 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 42.

Mahley RW, Weisgraber KH, Bersot TP. Disorders of lipid metabolism. In: Kronenberg HM, Melmed S, Polonsky KS, Larsen PR, eds. Williams Textbook of Endocrinology. 11th ed. Philadelphia, Pa: Saunders Elsevier; 2008:chap 36.

Semenkovich CF. Disorders of lipid metabolism. In: Goldman L, Ausiello D, eds. Cecil Medicine. 23rd ed. Philadelphia, Pa: Saunders Elsevier; 2007:chap 217.

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)