Elevated serum ferritin level with cataract of spectacular morphology: Hyperferritinemia-cataract syndrome

Pediatr Hematol Oncol. 2019 Sep;36(6):390-393. doi: 10.1080/08880018.2019.1621972. Epub 2019 Sep 14.

Abstract

Hyperferritinemia-cataract syndrome, characterized by high serum ferritin concentration and cataracts in early life, remains a less-known rare disease, with fewer than 100 families reported worldwide. Though benign, high ferritin levels frequently result in misdiagnosis with iron storage disease, and patients can be exposed to unnecessary, even invasive, evaluation and treatment procedures. The presence of cataract together with isolated serum ferritin elevation should alert clinicians to consider this syndrome. We herein present a new family with hyperferritinemia-cataract syndrome to increase clinical awareness.

Keywords: FTL gene; Turkish family; c-160A > G (40A > G) mutation; hyperferritinemia-cataract syndrome.

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Adolescent
  • Cataract / congenital
  • Female
  • Ferritins / blood*
  • Humans
  • Iron Metabolism Disorders / congenital

Substances

  • Ferritins

Supplementary concepts

  • Hyperferritinemia, hereditary, with congenital cataracts