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Familial hypercholesterolemia in adults: Treatment

Robert S Rosenson, MD
Paul Durrington, MD
Section Editor
Mason W Freeman, MD
Deputy Editor
Gordon M Saperia, MD, FACC


Familial hypercholesterolemia (FH) is the most common autosomal dominant genetic disease. The clinical syndrome (phenotype) is characterized by extremely elevated levels of low density lipoprotein cholesterol (LDL-C) and a propensity to early onset atherosclerotic cardiovascular disease. In general, homozygotes manifest the disease at a much earlier age than heterozygotes and the disease is more severe.

This topic will focus on the primary goal of therapy in FH adults: to significantly lower LDL-C levels. Other issues regarding FH in adults are presented separately. (See "Familial hypercholesterolemia in adults: Overview".)

The management of children and adolescents with heterozygous or homozygous FH is discussed separately. (See "Dyslipidemia in children: Management", section on 'Familial hypercholesterolemia'.)


All patients with a diagnosis of homozygous familial hypercholesterolemia should be referred to a lipid specialist with particular expertise in the care of these individuals. For adult heterozygote patients who have not achieved their low density lipoprotein cholesterol goal (see 'Goal of therapy' below) on statin therapy, consideration should be given to referral.


Intense low density lipoprotein cholesterol (LDL-C) lowering in individuals with heterozygous or homozygous familial hypercholesterolemia (FH) decreases progression of angiographically demonstrated coronary artery disease [1], and reduces cardiovascular disease events (myocardial infarction) [2], coronary heart disease mortality [3], and all-cause mortality [1-4]. The magnitude of benefit has varied in these studies due to differing populations, the end point chosen, as well as the intensity and duration of treatment. Reduction in combined end points of up to 50 percent have been found.

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Literature review current through: Nov 2017. | This topic last updated: May 15, 2017.
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