Genetic disorders of hdl metabolism

J. S. Lilley, M. F. Linton, Sergio Fazio

    Research output: Chapter in Book/Report/Conference proceedingChapter

    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.

    Original languageEnglish (US)
    Title of host publicationDyslipidemias: Pathophysiology, Evaluation and Management
    PublisherHumana Press Inc.
    Pages221-233
    Number of pages13
    ISBN (Print)9781607614241, 9781607614234
    DOIs
    StatePublished - Jan 1 2015

    Fingerprint

    Inborn Genetic Diseases
    HDL Lipoproteins
    Lecithin Cholesterol Acyltransferase Deficiency
    Cholesterol Ester Transfer Proteins
    Heredity
    Lipase
    LDL Lipoproteins
    Coronary Disease
    Atherosclerosis
    Phenotype

    ASJC Scopus subject areas

    • Medicine(all)

    Cite this

    Lilley, J. S., Linton, M. F., & Fazio, S. (2015). Genetic disorders of hdl metabolism. In Dyslipidemias: Pathophysiology, Evaluation and Management (pp. 221-233). Humana Press Inc.. https://doi.org/10.1007/978-1-60761-424-1-12

    Genetic disorders of hdl metabolism. / Lilley, J. S.; Linton, M. F.; Fazio, Sergio.

    Dyslipidemias: Pathophysiology, Evaluation and Management. Humana Press Inc., 2015. p. 221-233.

    Research output: Chapter in Book/Report/Conference proceedingChapter

    Lilley, JS, Linton, MF & Fazio, S 2015, Genetic disorders of hdl metabolism. in Dyslipidemias: Pathophysiology, Evaluation and Management. Humana Press Inc., pp. 221-233. https://doi.org/10.1007/978-1-60761-424-1-12
    Lilley JS, Linton MF, Fazio S. Genetic disorders of hdl metabolism. In Dyslipidemias: Pathophysiology, Evaluation and Management. Humana Press Inc. 2015. p. 221-233 https://doi.org/10.1007/978-1-60761-424-1-12
    Lilley, J. S. ; Linton, M. F. ; Fazio, Sergio. / Genetic disorders of hdl metabolism. Dyslipidemias: Pathophysiology, Evaluation and Management. Humana Press Inc., 2015. pp. 221-233
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