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Inherited disorders of LDL-cholesterol metabolism other than familial hypercholesterolemia

Authors
Robert S Rosenson, MD
Paul Durrington, MD
Section Editors
Mason W Freeman, MD
Francesco Cosentino, MD, PhD
Deputy Editor
Gordon M Saperia, MD, FACC

INTRODUCTION

Clinical dyslipidemia includes, but is not limited to, patients with abnormal levels of low density lipoprotein cholesterol (LDL-C), high density lipoprotein cholesterol, triglycerides, or lipoprotein(a). An abnormal level of each of these is the result of one or more genetic abnormalities or secondary to some underlying disease or environmental factors [1].

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

Elevation of LDL-C is common in the general population. Most of these individuals have one or more genetic abnormalities rather than a secondary cause (such as liver or kidney disease) (see "Secondary causes of dyslipidemia"). For individuals with LDL-C above 190 mg/dL, the genetic defects that lead to familial hypercholesterolemia (FH) are the most common underlying cause (see "Familial hypercholesterolemia in adults: Overview"). This topic will discuss non-FH causes of elevated LDL-C.

General treatment guidelines for elevated LDL-C 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 "HDL cholesterol: Clinical aspects of abnormal values" and "Lipoprotein(a) and cardiovascular disease" and "Management of low density lipoprotein cholesterol (LDL-C) in secondary prevention of cardiovascular disease" and "Hypertriglyceridemia".)

The approach to children with dyslipidemia is found elsewhere. (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".)

                 
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Literature review current through: Sep 2017. | This topic last updated: Sep 20, 2017.
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