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Intensive Combination LDL-Lowering Therapy in a Patient With Homozygous Familial Hypercholesterolemia

Hayato Tada1, Hirofumi Okada1, Masa-Aki Kawashiri1

  • 1Department of Cardiovascular Medicine, Kanazawa University Graduate School of Medical Sciences, Kanazawa, Japan.

JACC. Case Reports
|May 22, 2024
PubMed

Insights

A boy with severe familial hypercholesterolemia resistant to standard treatments showed significant LDL cholesterol reduction and plaque regression with novel therapies, including lomitapide and evinacumab.

Area of Science:

  • Cardiology
  • Genetics
  • Pharmacology

Background:

  • Familial hypercholesterolemia (FH) is a genetic disorder causing extremely high LDL cholesterol.
  • Homozygous FH (HoFH) is rare and presents a significant challenge in lipid management.
  • Standard lipid-lowering therapies are often insufficient for HoFH patients.

Observation:

  • A young boy with HoFH exhibited resistance to statins and ezetimibe.
  • Lipoprotein apheresis was initiated at 6 years of age.
  • Progressive atherosclerosis was evident, including carotid plaque.

Findings:

  • Combination therapy with lomitapide and evinacumab significantly reduced low-density lipoprotein cholesterol (LDL-C) levels.
  • The addition of these novel agents led to a notable regression of carotid plaque.
  • Treatment demonstrated efficacy in a statin- and ezetimibe-resistant HoFH case.

Implications:

  • Lomitapide and evinacumab offer a promising therapeutic strategy for severe, refractory HoFH.
  • Early intervention with advanced therapies may halt or reverse atherosclerotic progression in HoFH.
  • This case highlights the potential of targeted therapies in managing genetic lipid disorders.

Keywords:
genetic disordershypercholesterolemialipid metabolism disorders

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