Corneal arcus as the presenting sign of familial hypercholesterolemia in a young child

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Jane H Lock1, Carolyn A Ross1, Maree Flaherty1

  • 1Department of Ophthalmology, The Children's Hospital at Westmead, Sydney, Australia.

Journal of AAPOS : the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus
|September 5, 2018
PubMed

Insights

A young boy

Area of Science:

  • Pediatric Cardiology
  • Clinical Genetics
  • Ophthalmology

Background:

  • Familial hypercholesterolemia (FH) is a genetic disorder causing high cholesterol levels.
  • Early cardiovascular complications are a hallmark of untreated FH.
  • Corneal arcus is an uncommon finding in young children.

Observation:

  • A 2.6-year-old boy presented with a prominent corneal arcus.
  • This finding prompted further investigation due to its rarity in pediatric patients.

Findings:

  • The patient was diagnosed with familial hypercholesterolemia (FH).
  • Genetic analysis identified biallelic pathogenic variants (c.1069G>A and c.2034C>A) in the LDLR gene.
  • These variants confirm a genetic basis for the patient's condition.

Implications:

  • Early diagnosis of FH is crucial for preventing severe cardiovascular events.
  • Genetic confirmation aids in family screening and cascade testing.
  • Prompt treatment initiation can mitigate long-term health risks associated with FH.

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