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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The following are used in the management of homozygous FH:

  • Lifestyle changes: Recommended for cardiovascular benefits [9, 10]

  • High doses of 3-hydroxy-3-methyl-glutaryl-coenzyme A (HMG-CoA) reductase inhibitors (statins) combined with bile acid sequestrants, ezetimibe, and niacin [11]

  • Anti–proprotein convertase subtilisin/kexin type 9 (anti-PCSK9) monoclonal antibodies (specifically, evolocumab and alirocumab) can be used as an adjunct to diet and maximally tolerated statin therapy, [12]  or

  • Evinacumab, or

  • Lomitapide in severe cases (with or without LDL apheresis)

  • LDL apheresis for selective removal of lipoproteins that contain apo-B (when the LDL receptors are absent or nonfunctional)

  • Estrogen replacement therapy in postmenopausal women

The following are procedures used in the treatment of homozygous FH:

  • Portacaval anastomosis

  • Liver transplantation (rarely)

Investigative therapies for homozygous and heterozygous FH include probucol, which causes regression of cutaneous and tendon xanthomas in patients with both homozygous and heterozygous FH but no long-term benefits for reduced coronary atherosclerosis, and gene therapy.

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