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Raised serum ferritin concentration in hereditary hyperferritinemia cataract syndrome is not a marker for iron overload
Author(s) -
Yin Dan,
Kulhalli Vasu,
Walker Ann P.
Publication year - 2014
Publication title -
hepatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 5.488
H-Index - 361
eISSN - 1527-3350
pISSN - 0270-9139
DOI - 10.1002/hep.26681
Subject(s) - ferritin , cataracts , hemochromatosis , medicine , hereditary hemochromatosis , serum ferritin , gastroenterology , ophthalmology
Hyperferritinemia and bilateral cataracts are features of the rare hereditary hyperferritinemia cataract syndrome (HHCS; OMIM #600886). HHCS is an autosomal dominant condition caused by mutations which increase expression of the ferritin light polypeptide ( FTL ) gene. We report a patient with HHCS who was misdiagnosed and treated as having hemochromatosis, in whom a heterozygous c.‐160A>G mutation was identified in the iron responsive element (IRE) of FTL , causing ferritin synthesis in the absence of iron overload. This report demonstrates the need for clinical awareness of HHCS as a cause of hyperferritinemia in the absence of iron overload and provides a possible diagnostic schema. (H epatology 2014;59:1204–1206)