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

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.