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BMJ Publishing Group, Postgraduate Medical Journal, 936(79), p. 600-601, 2003

DOI: 10.1136/pmj.79.936.600

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Hereditary hyperferritinaemia-cataract syndrome and differential diagnosis of hereditary haemochromatosis

Journal article published in 2003 by S. J. Sanders ORCID, M. Suri, I. Ross
This paper is made freely available by the publisher.
This paper is made freely available by the publisher.

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Abstract

Abstract Hereditary hyperferritinaemia-cataract syndrome (HHCS) is a rare differential diagnosis of hereditary haemochromatosis. It should be suspected in patients with raised ferritin levels, but no evidence of iron overload, and in the absence of mutations in the HFE gene. Awareness of this condition prevents unnecessary liver biopsies and allows accurate genetic counselling since HHCS is an autosomal dominant disorder. The danger of treating these patients by phlebotomy in the same manner as those with hereditary haemochromatosis is highlighted.