An Infantile Case of Transient, Severe Hypercholesterolemia with Normalization after Complete Weaning from

Yukiyo Yamamoto1, Reiko Saito, Motohide Goto

  • 1Department of Pediatrics, School of Medicine, University of Occupational and Environmental Health, Fukuoka, Japan.

Insights

Breastfeeding can cause severe hypercholesterolemia in some infants, mimicking familial hypercholesterolemia. Cholesterol levels normalized after weaning, suggesting a link between prolonged breastfeeding and transient severe hypercholesterolemia.

Area of Science:

  • Pediatrics
  • Neonatology
  • Endocrinology

Background:

  • Neonatal screening identifies hyperthyrotropinemia, leading to diagnosis of transient hyperthyrotropinemia.
  • Infants may present with severe hypercholesterolemia, initially suspected as familial hypercholesterolemia due to high LDL cholesterol.

Observation:

  • A 20-day-old boy exhibited hyperthyrotropinemia, later developing severe hypercholesterolemia by 5 months.
  • Normal parental lipid profiles and the infant's elevated cholesterol levels raised suspicion of familial hypercholesterolemia.
  • The infant was exclusively breastfed until 6 months and continued to rely on breast milk post-weaning.

Findings:

  • Serum cholesterol levels significantly decreased after complete weaning from breast milk at 14 months.
  • The normalization of cholesterol levels, coupled with normal parental lipid profiles, indicated breastfeeding as the cause of transient severe hypercholesterolemia.
  • While breastfed infants typically have higher cholesterol, this case presents severe hypercholesterolemia comparable to familial hypercholesterolemia.

Implications:

  • Breastfeeding can be associated with severe, transient hypercholesterolemia in a subset of infants.
  • Clinicians should consider breastfeeding as a potential cause of severe hypercholesterolemia in infants, even with normal parental lipid profiles.
  • Further research is needed to elucidate the mechanisms behind breast milk-induced severe hypercholesterolemia.

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