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Current Treatment Options in Homozygous Familial Hypercholesterolemia

Meral Kayikcioglu1, Lale Tokgozoglu2

  • 1Department of Cardiology, Medical Faculty, Ege University, 35100 Izmir, Turkey.

Pharmaceuticals (Basel, Switzerland)
|January 21, 2023
PubMed

Insights

Homozygous familial hypercholesterolemia (HoFH) causes severe high cholesterol and early heart disease. New therapies offer LDL-receptor independent cholesterol reduction, improving survival for HoFH patients.

Area of Science:

  • Cardiology
  • Genetics
  • Pharmacology

Background:

  • Homozygous familial hypercholesterolemia (HoFH) is a rare genetic disorder.
  • It leads to extremely high LDL-C levels and premature atherosclerotic cardiovascular disease (ASCVD).
  • Early diagnosis and effective lipid-lowering therapy (LLT) are critical for preventing early ASCVD.

Purpose of the Study:

  • To review current and emerging pharmacotherapies for HoFH management.
  • To discuss treatment strategies in light of recent evidence and guidelines.
  • To highlight novel agents offering LDL-receptor independent cholesterol reduction.

Main Methods:

  • Literature review of current and emerging HoFH therapies.
  • Analysis of evidence supporting lipid-lowering treatments.
  • Summary of guideline recommendations for HoFH management.

Main Results:

  • Most HoFH patients are resistant to conventional LLT due to defective LDL-receptor activity.
  • New pharmacotherapies provide LDL-receptor independent cholesterol reduction.
  • On-treatment LDL-C levels are the primary predictor of survival in HoFH.

Conclusions:

  • HoFH requires specialized management due to its severity and treatment resistance.
  • Emerging therapies represent a new era in HoFH treatment, improving outcomes.
  • Effective LLT is paramount for reducing ASCVD risk and enhancing survival in HoFH patients.

Keywords:
EvinacumabLomitapideapheresisfamilial hypercholesterolemiaguidelineslipid lowering therapylow-density lipoprotein cholesterol

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