title: Hyperferritinemia without iron overload in patients with bilateral cataracts: a case series.
abstract: BACKGROUND
  Hepatologists and internists often encounter patients with unexplained high serum ferritin concentration. After exclusion of hereditary hemochromatosis and hemosiderosis, rare disorders like hereditary hyperferritinemia cataract syndrome should be considered in the differential diagnosis. This autosomal dominant syndrome, that typically presents with juvenile bilateral cataracts, was first described in 1995 and has an increasing number of recognized molecular defects within a regulatory region of the L-ferritin gene (FTL).
  
  
  METHODS
  Two patients (32 and 49-year-old Caucasian men) from our ambulatory clinic were suspected as having this syndrome and a genetic analysis was performed. In both patients, sequencing of the FTL 5' region showed previously described mutations within the iron responsive element (FTL c.33 C > A and FTL c.32G > C).
  
  
  CONCLUSIONS
  Hereditary hyperferritinemia cataract syndrome should be considered in all patients with unexplained hyperferritinemia without signs of iron overload, particularly those with juvenile bilateral cataracts. Liver biopsy and phlebotomy should be avoided in this disorder.
authors.affiliation: Department of Medicine, Uster Hospital, Brunnenstrasse 42, CH-8610 Uster, Switzerland. esther.baechli@spitaluster.ch.
authors.forename: Arne
authors.initials: A
authors.lastname: Kröger
authors.forename: Esther B
authors.initials: EB
authors.lastname: Bachli
authors.forename: Andrew
authors.initials: A
authors.lastname: Mumford
authors.forename: Christoph
authors.initials: C
authors.lastname: Gubler