A rare case report of hereditary hyperferritinemia cataract syndrome

Abstract

Background

Hereditary hyperferritinemia cataract syndrome (HHCS) is a rare genetic disease caused by a mutation in the ferritin light chain gene (FTL gene). It is characterized by hyperferritinemia without tissue iron overload and bilateral early-onset cataracts.

Case report

An otherwise healthy 13-year-old girl was evaluated for persistent hyperferritinemia (1437 ng/ml). Her medical history and clinical examination were normal. The transferrin saturation was normal (28.5 %, normal range: 20–40 %), and secondary causes of hyperferritinemia were excluded. An ophthalmological assessment revealed mild opacity of both lenses. Targeted molecular testing revealed a c.-161C > G mutation of the FTL gene in heterozygosity, confirming the diagnosis of HHCS. Considering the patient's negative family history, this may be a de novo mutation.

Conclusion

In patients with early onset cataracts, ferritin levels should be checked and vice versa. An ophthalmological evaluation should be done for unexplained hyperferritinemia. Timely diagnosis prevents unnecessary tests and inappropriate therapeutic intervention.