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Review
. 2014 Winter;14(4):669-72.

Familial hypercholesterolemia

Rade N Pejic  1
Affiliations
Review

Familial hypercholesterolemia

Rade N Pejic. Ochsner J. 2014 Winter.

Abstract

Background: Familial hypercholesterolemia (FH) is an autosomal dominant-inherited genetic disorder that leads to elevated blood cholesterol levels. FH may present as severely elevated total cholesterol and low density lipoprotein (LDL) cholesterol levels or as premature coronary heart disease (CHD).

Methods: This review presents information on the disease and on the effects of drug treatment and lifestyle changes.

Results: Routine lipid testing should identify most patients with FH. Once an index case is identified, testing should be offered to family members. Early diagnosis and aggressive treatment with therapeutic lifestyle changes and statins can prevent premature CHD and other atherosclerotic sequelae in patients with FH.

Conclusion: Emerging therapies such as LDL apheresis and novel therapeutic agents may be useful in patients with homozygous FH or treatment-resistant FH. Liver transplantation is the only effective therapy for severe cases of homozygous FH.

Keywords: Genetic diseases–inborn; hypercholesterolemia; hyperlipoproteinemia type II.

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Conflict of interest statement

The author has no financial or proprietary interest in the subject matter of this article.

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