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Children with Severe Hypercholesterolemia Caused by a Pathogenic Mutation in ABCG5

Hayato Tada1, Hirofumi Okada1, Akihiro Nomura1

  • 1Department of Cardiology, Kanazawa University Graduate School of Medicine, Japan.

Internal Medicine (Tokyo, Japan)
|June 15, 2022
PubMed

Insights

Pathogenic mutations in ABCG5 cause severe hypercholesterolemia in infants, particularly when breastfed. Dietary changes and ezetimibe effectively lowered low-density lipoprotein (LDL) cholesterol levels in affected patients.

Area of Science:

  • Biochemistry
  • Genetics
  • Pediatrics

Background:

  • Familial hypercholesterolemia is a genetic disorder characterized by extremely high LDL cholesterol.
  • The ATP-binding cassette sub-family G member 5 (ABCG5) gene plays a crucial role in cholesterol transport.

Observation:

  • Three infants with severe hypercholesterolemia, exclusively breastfed, showed decreased LDL cholesterol after weaning.
  • An 8-year-old girl with suspected familial hypercholesterolemia also had pathogenic ABCG5 mutations.

Findings:

  • Genetic sequencing identified pathogenic mutations in the ABCG5 gene in all studied patients.
  • A cholesterol-reduced diet significantly lowered LDL cholesterol levels.
  • Ezetimibe administration proved beneficial in managing hypercholesterolemia.

Implications:

  • This study highlights ABCG5 mutations as a cause of severe infantile hypercholesterolemia.
  • Early diagnosis and targeted interventions, including diet and medication, are crucial for managing this condition.
  • Understanding the role of ABCG5 in cholesterol metabolism can inform future therapeutic strategies.

Keywords:
ABCG5LDL cholesterolLDLRfamilial hypercholesterolemia

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