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Genetic Disorders of HDL Metabolism

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Dyslipidemias

Part of the book series: Contemporary Endocrinology ((COE))

Abstract

Metabolism, function, and plasma levels of high-density lipoprotein (HDL) are influenced by genetic factors. Monogenic disorders causing very low and very high HDL levels, such as Tangier and fish-eye disease on one side, cholesteryl ester transfer protein (CETP) and hepatic lipase (HL) deficiency on the other, are rare but important for the clinician to recognize. More common is an interaction between environment and heredity causing less drastic but clinically significant phenotypes. Recent development in our understanding of HDL biosynthesis, catabolism, and action, combined with the failure of trials with HDL-raising drugs, challenges the dogma that high HDL levels protect the vessel wall and low HDL syndromes lead to increased atherosclerosis. The novel concept of HDL functionality may take the place of HDL concentrations as predictor of coronary disease rates. It is not currently known whether HDL functionality is an inherited trait. This chapter reviews HDL metabolism, outlines known inherited aberrations, and considers the potential implications of current research.

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Authors and Affiliations

  1. Department of Pediatrics, Division of Pediatric Endocrinology, University of Mississippi School of Medicine, 2500 North State St Jackson, 39216, Nashville, MS, USA

    Jessica Sparks Lilley MD

  2. Atherosclerosis Research Unit, Vanderbilt University School of Medicine, 312 PRB, 37232-6300, Cardiovascular Medicine Nashville, TN, USA

    MacRae F. Linton MD

  3. Center for Preventive Cardiology, Knight Cardiovascular Institute, Oregon Health and Science University, 97239, Portland, OR, USA

    Sergio Fazio MD, PhD

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  1. Jessica Sparks Lilley MD
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  2. MacRae F. Linton MD
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  3. Sergio Fazio MD, PhD
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Correspondence to Jessica Sparks Lilley MD .

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Editors and Affiliations

  1. Professor of Internal Medicine, UT Southwestern Medical Center, Dallas, Texas, USA

    Abhimanyu Garg

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Lilley, J., Linton, M., Fazio, S. (2015). Genetic Disorders of HDL Metabolism. In: Garg, A. (eds) Dyslipidemias. Contemporary Endocrinology. Humana Press, Totowa, NJ. https://doi.org/10.1007/978-1-60761-424-1_12

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