# Hereditary Hyperferritinemia-Cataract Syndrome: A Pediatric Case Without Congenital Cataract

## TL;DR

A three-year-old boy with high ferritin levels was diagnosed with a rare genetic condition linked to cataracts and elevated ferritin, highlighting its hereditary nature.

## Contribution

This case presents a novel four-generation family history of hereditary hyperferritinemia-cataract syndrome without congenital cataract.

## Key findings

- The patient had the c.-168G>T mutation in the FTL gene, confirming hereditary hyperferritinemia-cataract syndrome.
- The case highlights a family history spanning four generations with early-onset cataracts and elevated ferritin levels.
- The condition was identified without the presence of congenital cataract, which is atypical for this syndrome.

## Abstract

The differential diagnosis for hyperferritinemia is wide, including malignancy, infections, autoimmune disorders, hemophagocytic lymphohistiocytosis, hyperthyroidism, chronic kidney disease, and, most commonly, iron overload. As an acute-phase reactant, ferritin is usually elevated due to secondary causes. In rare circumstances, however, ferritin levels may be primarily elevated due to a genetic cause. We report a case of a three-year-old male patient with incidentally detected hyperferritinemia who was found to harbor the c.-168G>T mutation in the FTL gene, confirming hereditary hyperferritinemia-cataract syndrome (HHCS). This case is distinguished by a unique four-generation family history of early-onset cataracts and elevated ferritin levels, underscoring the hereditary and novel nature of this disorder.