Abstract
BACKGROUND: The aim of the present study was to examine the diversity of liver diseases in outpatients referred because of elevated serum ferritin. METHODS: A retrospective review was performed of outpatient referrals for serum ferritin elevations made to a tertiary care centre liver clinic between 1999 and 2005. Information regarding serum ferritin, transferrin saturation, liver biopsy, liver iron concentration and final diagnosis was extracted. Patients were stratified into two groups based on ferritin concentration: ferritin concentration 300 microg/L to 1000 microg/L, and ferritin concentration greater than 1000 microg/L. RESULTS: A total of 482 charts were reviewed, of which 119 (25%) had ferritin concentrations greater than 1000 microg/L. HFE-linked hemochromatosis, nonalcoholic steatohepatitis and alcohol-related liver disease were the top three diagnoses. HFE-linked hemochromatosis accounted for 28% to 42% of the diagnoses in all subgroups. The percentage of patients diagnosed with HFE-linked hemochromatosis was similar in the ferritin 300 microg/L to 1000 microg/L and the ferritin greater than 1000 microg/L groups (P = 0.067). Among patients with ferritin greater than 1000 microg/L, 63% underwent a liver biopsy. Of those with an elevated liver iron concentration (greater than 35 micromol/g dry weight), 71% had a transferrin saturation greater than 50% (88% of C282Y homozygotes and 43% of non-C282Y homozygotes). In non-C282Y homozygotes with an elevated serum ferritin concentration greater than 1000 microg/L, 64% did not have iron overload on liver biopsy. CONCLUSION: HFE-linked hemochromatosis accounted for less than one-half of the diagnoses in an outpatient population referred for elevated ferritin, suggesting a need to search further for an alternate cause.