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Inherited disorders of LDL-cholesterol metabolism

Robert S Rosenson, MD
Sarah D de Ferranti, MD, MPH
Paul Durrington, MD
Section Editor
Mason W Freeman, MD
Deputy Editor
Gordon M Saperia, MD, FACC


Lipid disorders occur as either a result of one or more genetic abnormalities or secondary to some underlying disease [1]. The former are discussed in this topic, which will focus principally on the inherited disorders of low density lipoprotein (LDL) cholesterol metabolism, which often lead to premature atherosclerosis in the individual and in family members. Secondary causes of lipid disorders are discussed elsewhere. (See "Secondary causes of dyslipidemia".)

Inherited disorders of LDL cholesterol metabolism are associated with overproduction and/or impaired removal of lipoproteins (table 1). The latter defect can be induced by an abnormality in either the lipoprotein itself or in the lipoprotein receptor.

General treatment guidelines for hypercholesterolemia and possible indications for the therapy of other dyslipidemias, such as low serum high density lipoprotein cholesterol, hypertriglyceridemia, and elevated serum lipoprotein(a), are discussed in other topic reviews. (See "Management of elevated low density lipoprotein-cholesterol (LDL-C) in primary prevention".)

Further information on the approach to children with dyslipidemia is found in other UpToDate topics. (See "Risk factors and development of atherosclerosis in childhood" and "Diseases associated with atherosclerosis in childhood" and "Overview of the management of the child at risk for atherosclerosis".)


One definition of dyslipidemia is total cholesterol, low density lipoprotein cholesterol (LDL-C), triglyceride, or lipoprotein(a) levels above the 90th percentile or high density lipoprotein cholesterol or apo A-1 levels below the 10th percentile for the general population (table 2).


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Literature review current through: Jul 2017. | This topic last updated: Aug 23, 2016.
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