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A child with hyperferritinemia: case report

Melania Serra1, Filomena Longo, Antonella Roetto

  • 1Division of Pediatrics and Thalassemia Center, Department of Clinical and Biological Sciences, University of Torino, S, Luigi Gonzaga Hospital, Orbassano (TO), 10043, Italy. antonio.piga@unito.it

Italian Journal of Pediatrics
|May 17, 2011
PubMed

Insights

Hereditary hyperferritinemia cataract syndrome (HHCS) is a rare genetic disorder. Early diagnosis is crucial, especially when children present with high ferritin levels and a family history of cataracts.

Area of Science:

  • Genetics
  • Pediatrics
  • Ophthalmology

Background:

  • Hereditary hyperferritinemia cataract syndrome (HHCS) is a rare autosomal dominant disorder.
  • It results from mutations in the ferritin light chain gene (FTL).
  • HHCS is characterized by elevated serum ferritin levels without iron overload and bilateral cataracts.

Observation:

  • A 6-year-old Italian boy presented with unexplained, persistently high serum ferritin levels.
  • Diagnostic uncertainty persisted until family history revealed cataracts in five relatives.
  • Genetic testing confirmed the A37C mutation, diagnosing HHCS.

Findings:

  • The case highlights HHCS as a differential diagnosis for isolated hyperferritinemia in children.
  • Family history is a critical clue for diagnosing rare genetic syndromes.
  • Genetic confirmation is essential for accurate diagnosis.

Implications:

  • Emphasizes the importance of considering rare genetic conditions in pediatric diagnostics.
  • Highlights the need for thorough family history assessment in cases of unexplained hyperferritinemia.
  • Suggests early screening for cataracts in families with a history of HHCS.

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