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New Frontiers in the Treatment of Homozygous Familial Hypercholesterolemia

Arturo Cesaro1, Fabio Fimiani2, Felice Gragnano3

  • 1Department of Translational Medical Sciences, University of Campania "Luigi Vanvitelli", Naples, Italy; Division of Cardiology, A.O.R.N. "Sant'Anna e San Sebastiano", Edificio C - Cardiologia Universitaria, Via Ferdinando Palasciano 1, Caserta 81100, Italy. Electronic address: https://twitter.com/arturocesaro.

Heart Failure Clinics
|November 15, 2021
PubMed

Insights

Homozygous familial hypercholesterolemia (HoFH) is a rare genetic condition. This review explores novel therapeutic strategies for managing HoFH and reducing LDL cholesterol levels.

Area of Science:

  • Genetics
  • Cardiology
  • Pharmacology

Background:

  • Homozygous familial hypercholesterolemia (HoFH) is a rare genetic disorder characterized by extremely high LDL cholesterol levels.
  • The most frequent cause is mutations in both alleles of the low-density lipoprotein (LDL) receptor gene.
  • Atherosclerotic cardiovascular disease complications are prevalent in HoFH patients, necessitating effective LDL cholesterol reduction.

Purpose of the Study:

  • To review recent and ongoing studies on novel therapeutic options for HoFH.
  • To highlight innovations in treating patients with HoFH.
  • To discuss strategies for managing elevated LDL cholesterol in HoFH.

Main Methods:

  • Literature review of recent and ongoing studies.
  • Analysis of novel therapeutic strategies for HoFH.
  • Examination of clinical challenges in HoFH management.

Main Results:

  • Novel therapeutic strategies show promise for HoFH treatment.
  • Recent studies explore innovative approaches to lower LDL cholesterol in HoFH.
  • Ongoing research investigates new options for HoFH management.

Conclusions:

  • Effective management of HoFH requires reducing the LDL cholesterol burden.
  • Novel therapies offer promising advancements in HoFH treatment.
  • Continued research is crucial for improving HoFH patient outcomes.

Keywords:
Angiopoietin-like 3Gene therapyGene-editingHomozygous familial hypercholesterolemiaInclisiranLomitapideLow-density lipoprotein cholesterolPCSK9

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