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FH through the retrospectoscope.

Gilbert R Thompson1

  • 1Faculty of Medicine, Hammersmith Hospital Campus, Imperial College London, London, United Kingdom.

Journal of Lipid Research
|July 12, 2020
PubMed
Summary
This summary is machine-generated.

Familial hypercholesterolemia (FH) research confirmed LDL receptor dysfunction as the cause. Improved treatments enhance survival for homozygous FH, but early detection is crucial for heterozygous FH.

Keywords:
apheresisatherosclerosiscardiovascular diseasecholesterolfamilial hypercholesterolemiahyperlipidemiahypolipidemic drugslipoprotein (a)proprotein convertase subtilisin/kexin type 9statins, low density lipoprotein receptor

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Area of Science:

  • Lipidology
  • Cardiovascular Research
  • Metabolic Disorders

Background:

  • The author's career transition from gastroenterology to lipidology.
  • Pioneering plasma exchange for familial hypercholesterolemia (FH) homozygotes.
  • Investigating low-density lipoprotein (LDL) kinetics and metabolism.

Purpose of the Study:

  • To confirm the role of LDL receptor dysfunction in FH.
  • To explore alternative LDL production pathways.
  • To review current and emerging FH management strategies.

Main Methods:

  • Non-steady state and steady-state LDL kinetic studies.
  • In vivo confirmation of LDL receptor dysfunction.
  • Analysis of large cohort data on lipid-lowering treatments.

Main Results:

  • FH homozygotes exhibit near-complete lack of receptor-mediated LDL catabolism.
  • A significant portion of LDL is produced via a VLDL-independent pathway in FH.
  • Lipid-lowering therapies markedly improve survival in homozygous FH patients with lower on-treatment cholesterol.

Conclusions:

  • LDL receptor dysfunction is definitively linked to FH.
  • Emerging therapies offer hope for homozygous FH prognosis.
  • Enhanced detection strategies are vital for heterozygous FH management.