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102 PREVALENCE OF C282Y HOMOZYGOTES FOR THE HEMOCHROMATOSIS GENE (HFE) AMONG OUTPATIENT REFERRALS FOR SERUM FERRITIN >1000 µg/L K Wong, P Adams BACKGROUND: Referrals to assess for hemochromatosis in patients with varying degrees of ferritin elevation are common in a hepatology outpatient practice. Although ferritin elevation suggests possible iron overload, there are other causes for hyperferritinemia (inflammation, alcohol or fatty liver), as well as other causes for iron overload apart from hereditary hemochromatosis, such as secondary iron overload.
Department of Medicine, University of Western Ontario, London, Ontario
OBJECTIVE: To determine what percentage of referrals to a subspecialty liver clinic for serum ferritin >1000 µg/L have hereditary hemochromatosis (C282Y homozygotes).
METHODS: Restrospective chart review of outpatient referrals made to a tertiary care centre for hemochromatosis with ferritin elevations above 1000 µg/L between the years 1999 and 2005.
RESULTS: One hundred six charts were reviewed. Fourty-two per cent (45/106) had HFE-associated hemochromatosis of which 84% (38/45) were C282Y homozygotes. Remainder of the diagnoses included alcoholic liver disease (16%), nonalcoholic fatty liver disease (12%), other causes of iron overload (10%) and hepatitis C (4%). Nine per cent (10/106) did not have a diagnosis after extensive investigations including liver biopsies in half of these individuals. Four per cent had miscellaneous diagnoses including autoimmune hepatitis, hepatitis B and lymphoma. Among those with iron overload other than hemochromatosis, diagnoses included multiple red cell transfusions, intravenous iron therapy, aceruloplasminemia and juvenile hemochromatosis. Two patients had hereditary hyperferritinemia cataract syndrome. Sixty-seven per cent (71/106) had liver biopsies.
Of the patients who had documented iron overload by biopsy (liver iron concentration >36 µmol/g), 73.5% (25/34) had an elevated transferrin saturation (>55%). Of the C282Y homozygotes with iron overload on biopsy, 96% (22/23) had elevated transferrin saturation versus 43% (6/14) in the non-C282Y homozygotes with biopsy-proven iron overload.
CONCLUSION: The majority of patients (>50%) referred to a hemochromatosis clinic with ferritin >1000 µg/L do not have HFE-associated hemochromatosis, therefore a search for an alternate diagnosis is recommended.