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Management of Homozygous Familial Hypercholesterolemia

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Therapeutic Lipidology

Part of the book series: Contemporary Cardiology ((CONCARD))

Abstract

Homozygous familial hypercholesterolemia (HoFH) is a devastating codominant autosomal disease mostly caused by loss off function variants affecting the LDL receptor gene (LDLR) and is characterized by extremely elevated plasma LDL-cholesterol (LDL-C), diffuse cutaneous and tendinous xanthomas, corneal arcus, and early diffuse atherosclerotic cardiovascular disease (ASCVD). In addition, HoFH individuals usually develop severe aortic valve or supra-aortic valve diseases. HoFH is usually refractory to standard pharmacological lipid-lowering therapies and use of other medications like PCSK9 inhibitors, microsomal transfer protein inhibitors, and lipoprotein apheresis (LA) are necessary. Lipid-lowering therapy has increased ASCVD event-free survival from the second to the third decade of life in HoFH individuals; however, coronary atherosclerosis and aortic valve or supra-aortic valve disease still cause striking early morbidity and mortality.

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Authors and Affiliations

  1. Department of Cardiology and Lipid Clinic, Heart Institute (InCor) University of Sao Paulo Medical School Hospital, Sao Paulo, Brazil

    Raul D. Santos

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  1. The University of Chicago Pritzker School of Medicine, Chicago, IL, USA

    Michael H. Davidson

  2. Cicarrone Center for the Prevention of Cardiovascular Disease, Johns Hopkins Univerity School of Medicine, Baltimore, MD, USA

    Peter P. Toth

  3. Department of Applied Health Science, Indiana University School of Public Health, Bloomington, IN, USA

    Kevin C. Maki

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Santos, R.D. (2021). Management of Homozygous Familial Hypercholesterolemia. In: Davidson, M.H., Toth, P.P., Maki, K.C. (eds) Therapeutic Lipidology. Contemporary Cardiology. Humana, Cham. https://doi.org/10.1007/978-3-030-56514-5_20

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