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Treatment of Homozygous Familial Hypercholesterolemia With Evinacumab

Natasha Jeraj1, Shih-Han S Huang1, Brooke A Kennedy2

  • 1Department of Medicine, Schulich School of Medicine and Dentistry, Western University, London, Ontario, Canada.

CJC Open
|April 7, 2022
PubMed

Insights

Evinacumab treatment significantly lowered low-density lipoprotein cholesterol (LDL-C) in a patient with homozygous familial hypercholesterolemia (HoFH). This novel therapy reduced the need for frequent apheresis, offering new hope for HoFH management.

Area of Science:

  • Cardiovascular Medicine
  • Pharmacology
  • Genetics

Background:

  • Homozygous familial hypercholesterolemia (HoFH) is a rare genetic disorder characterized by extremely high low-density lipoprotein cholesterol (LDL-C) levels.
  • HoFH leads to premature atherosclerosis and cardiovascular complications, with limited treatment options.
  • Current therapies, including statins, ezetimibe, and PCSK9 inhibitors, often prove insufficient for HoFH patients.

Observation:

  • A single patient with HoFH received monthly infusions of evinacumab for 17 months.
  • Evinacumab was administered as an add-on therapy to existing treatments (statin, ezetimibe, evolocumab).
  • The patient's LDL-C levels were monitored throughout the treatment period.

Findings:

  • Evinacumab treatment was associated with a marked reduction in LDL-C levels.
  • The frequency of LDL-C apheresis required by the patient decreased significantly.
  • The angiopoietin-like protein 3 inhibitor demonstrated a novel, receptor-independent mechanism for lowering LDL-C.

Implications:

  • Evinacumab shows promise as an effective therapeutic option for managing HoFH.
  • This case highlights the potential of targeting angiopoietin-like protein 3 for severe hypercholesterolemia.
  • Further research into evinacumab's efficacy and safety in a larger HoFH population is warranted.

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