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

doi:10.1016/j.pathol.2018.11.005

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

UWA Medical School

Research output: Contribution to journal › Review article › peer-review

12 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 language	English
Pages (from-to)	193-201
Number of pages	9
Journal	Pathology
Volume	51
Issue number	2
DOIs	https://doi.org/10.1016/j.pathol.2018.11.005
Publication status	Published - Feb 2019

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10.1016/j.pathol.2018.11.005

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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.",

keywords = "Rare genetic lipid disorders, rare diseases, patient and clinical registries, genetic testing, novel therapies, AUTOSOMAL RECESSIVE HYPERCHOLESTEROLEMIA, HOMOZYGOUS FAMILIAL HYPERCHOLESTEROLEMIA, ACID LIPASE DEFICIENCY, LECITHIN-CHOLESTEROL ACYLTRANSFERASE, STEM-CELL TRANSPLANTATION, LOW HDL-CHOLESTEROL, HEPATIC LIPASE, DOUBLE-BLIND, OPEN-LABEL, LIPOPROTEIN PROFILE",

author = "Ng, {David M.} and Burnett, {John R.} and Bell, {Damon A.} and Hegele, {Robert A.} and Hooper, {Amanda J.}",

year = "2019",

month = feb,

doi = "10.1016/j.pathol.2018.11.005",

language = "English",

volume = "51",

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journal = "Pathology",

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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.

PY - 2019/2

Y1 - 2019/2

N2 - 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.

AB - 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.

KW - Rare genetic lipid disorders

KW - rare diseases

KW - patient and clinical registries

KW - genetic testing

KW - novel therapies

KW - AUTOSOMAL RECESSIVE HYPERCHOLESTEROLEMIA

KW - HOMOZYGOUS FAMILIAL HYPERCHOLESTEROLEMIA

KW - ACID LIPASE DEFICIENCY

KW - LECITHIN-CHOLESTEROL ACYLTRANSFERASE

KW - STEM-CELL TRANSPLANTATION

KW - LOW HDL-CHOLESTEROL

KW - HEPATIC LIPASE

KW - DOUBLE-BLIND

KW - OPEN-LABEL

KW - LIPOPROTEIN PROFILE

U2 - 10.1016/j.pathol.2018.11.005

DO - 10.1016/j.pathol.2018.11.005

M3 - Review article

C2 - 30598327

SN - 0031-3025

VL - 51

SP - 193

EP - 201

JO - Pathology

JF - Pathology

IS - 2

ER -

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

Abstract

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