Hereditary hyperferritinaemia-cataract syndrome and differential diagnosis of hereditary haemochromatosis.
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.
Sanders
S J
SJ
Clinical Genetics Service, City Hospital, Nottingham, UK.
Suri
M
M
Ross
I
I
D000328:Adult; D002386:Cataract / Q000209:etiology*; D003937:Diagnosis, Differential; D005293:Ferritins / Q000097:blood*; D006432:Hemochromatosis / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D008297:Male; D013577:Syndrome
D005293:Ferritins