Update on the diagnosis, treatment and management of rare genetic lipid disorders

David M. Ng, John R. Burnett, Damon A. Bell, Robert A. Hegele, Amanda J. Hooper

Research output: Contribution to journalReview article

2 Citations (Scopus)

Abstract

Rare genetic lipid disorders affect the levels of cholesterol and/or triglyceride in the circulation and, if untreated, can often lead to severe multisystem complications. The field of rare lipid disorders is evolving and increasing awareness of these conditions, along with the systematic integration of recent advances or knowledge into clinical practice, is crucial to improve patient outcomes. The aim of this review is to provide an overview of selected rare genetic lipid disorders, focusing on the recommended diagnostic strategies and contemporary treatment and management options.

Original languageEnglish
Pages (from-to)193-201
Number of pages9
JournalPathology
Volume51
Issue number2
DOIs
Publication statusPublished - Feb 2019

Cite this

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title = "Update on the diagnosis, treatment and management of rare genetic lipid disorders",
abstract = "Rare genetic lipid disorders affect the levels of cholesterol and/or triglyceride in the circulation and, if untreated, can often lead to severe multisystem complications. The field of rare lipid disorders is evolving and increasing awareness of these conditions, along with the systematic integration of recent advances or knowledge into clinical practice, is crucial to improve patient outcomes. The aim of this review is to provide an overview of selected rare genetic lipid disorders, focusing on the recommended diagnostic strategies and contemporary treatment and management options.",
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Update on the diagnosis, treatment and management of rare genetic lipid disorders. / Ng, David M.; Burnett, John R.; Bell, Damon A.; Hegele, Robert A.; Hooper, Amanda J.

In: Pathology, Vol. 51, No. 2, 02.2019, p. 193-201.

Research output: Contribution to journalReview article

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T1 - Update on the diagnosis, treatment and management of rare genetic lipid disorders

AU - Ng, David M.

AU - Burnett, John R.

AU - Bell, Damon A.

AU - Hegele, Robert A.

AU - Hooper, Amanda J.

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KW - Rare genetic lipid disorders

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KW - genetic testing

KW - novel therapies

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KW - HOMOZYGOUS FAMILIAL HYPERCHOLESTEROLEMIA

KW - ACID LIPASE DEFICIENCY

KW - LECITHIN-CHOLESTEROL ACYLTRANSFERASE

KW - STEM-CELL TRANSPLANTATION

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KW - OPEN-LABEL

KW - LIPOPROTEIN PROFILE

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