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Best practice
Inherited metabolic disorders and dyslipidaemia
  1. Raashda A Sulaiman
  1. Department of Medical Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia
  1. Correspondence to Dr Raashda A Sulaiman, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia; rsulaiman{at}kfshrc.edu.sa

Abstract

Monogenic dyslipidaemia is a diverse group of multisystem disorders. Patients may present to various specialities from early childhood to late in adult life, and it usually takes longer before the diagnosis is established. Increased awareness of these disorders among clinicians is imperative for early diagnosis. This best practice review provides an overview of primary dyslipidaemias, highlighting their clinical presentation, relevant biochemical and molecular tests. It also addresses the emerging role of genetics in the early diagnosis and prevention of these disorders.

  • lipoproteins
  • lipids
  • inherited pathology

https://doi.org/10.1136/jclinpath-2019-205910

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    Footnotes

    • Handling editor Tahir S Pillay.

    • Contributors This manuscript was written solely by RAS.

    • Funding The author has not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

    • Competing interests None declared.

    • Patient consent for publication Not required.

    • Provenance and peer review Commissioned; externally peer reviewed.

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