Literature DB >> 30598327

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

David M Ng1, John R Burnett2, Damon A Bell2, Robert A Hegele3, Amanda J Hooper4.   

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.
Copyright © 2018 Royal College of Pathologists of Australasia. Published by Elsevier B.V. All rights reserved.

Entities:  

Keywords:  Rare genetic lipid disorders; genetic testing; novel therapies; patient and clinical registries; rare diseases

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Substances：

Year:  2018        PMID： 30598327     DOI： 10.1016/j.pathol.2018.11.005

Source DB:  PubMed          Journal:  Pathology        ISSN： 0031-3025            Impact factor:   5.306


  2 in total

1.  Mapping, Infrastructure, and Data Analysis for the Brazilian Network of Rare Diseases: Protocol for the RARASnet Observational Cohort Study.

Authors:  Domingos Alves; Diego Bettiol Yamada; Filipe Andrade Bernardi; Isabelle Carvalho; Márcio Eloi Colombo Filho; Mariane Barros Neiva; Vinícius Costa Lima; Têmis Maria Félix
Journal:  JMIR Res Protoc       Date:  2021-01-22

Review 2.  Current Diagnosis and Management of Primary Chylomicronemia.

Authors:  Hiroaki Okazaki; Takanari Gotoda; Masatsune Ogura; Shun Ishibashi; Kyoko Inagaki; Hiroyuki Daida; Toshio Hayashi; Mika Hori; Daisaku Masuda; Kota Matsuki; Shinji Yokoyama; Mariko Harada-Shiba
Journal:  J Atheroscler Thromb       Date:  2021-05-13       Impact factor: 4.928
  2 in total

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