How is homozygous familial hypercholesterolemia (FH) treated?

Updated: Oct 04, 2021
  • Author: Mose July, MD, CCD; Chief Editor: Romesh Khardori, MD, PhD, FACP  more...
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General treatment recommendations are discussed in more depth below.

Because of improved diet normally results in upregulation of LDL receptors, the impact of diet changes on LDLc levels in homozygous patients is negligible (there are no receptors to upregulate), but lifestyle changes have other cardiovascular benefits and should be strongly encouraged. [9, 10]

Because of the severity of CHD and lack of response, homozygous FH patients require heroic intervention.

Occasionally, the LDL receptors retain some degree of function and diet control and high doses of HMG-CoA reductase inhibitors combined with bile acid sequestrants, ezetimibe, and niacin can be effective. [11] Estrogen replacement therapy in postmenopausal women is also effective, but this therapy is not recommended because of its adverse effects in older women. However, in some women the benefits may outweigh risks.

The FDA approved Liptruzet (Merck)–a combination of ezetimibe and atorvastatin–for the reduction of cholesterol levels in patients with homozygous FH, and as an adjunct to dietary changes in the treatment of elevated LDLc levels in patients with primary or mixed hyperlipidemia. A once-daily tablet, Liptruzet contains 10 mg of ezetimibe combined with 10, 20, 40, or 80 mg of atorvastatin. [30]

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