Hereditary Hyperferritinemia Cataract Syndrome Mimicking Iron Overload in a Pediatric Patient With Coexisting HFE H63D Homozygosity.

BACKGROUND: Hereditary hyperferritinemia cataract syndrome (HHCS) is a rare autosomal dominant disorder caused by mutations in the FTL gene, characterized by elevated serum ferritin levels without systemic iron overload and early-onset cataract. Misinterpretation of hyperferritinemia may lead to unnecessary investigations and treatment.

CASE: We report a pediatric case with familial involvement in which hyperferritinemia was incidentally detected in a 9-year-old boy. Laboratory evaluation revealed markedly elevated serum ferritin levels with normal transferrin saturation and no evidence of systemic iron overload. Genetic analysis identified a heterozygous c.-161C > T mutation in the FTL gene. In addition, a homozygous HFE c.187C > G (p.His63Asp) variant was detected. Family screening revealed similar biochemical and genetic findings in multiple relatives, several of whom had bilateral cataracts.

CONCLUSION: This case underscores the importance of considering HHCS in pediatric patients presenting with hyperferritinemia and normal transferrin saturation. The coexistence of FTL mutation and HFE H63D homozygosity appears to be incidental and should be interpreted cautiously. Recognition of this condition is essential to prevent unnecessary investigations and inappropriate treatment.