DIAGNOSIS OF HEMOCHROMATOSIS PROBANDS IN A COMMUNITY-HOSPITAL

PURPOSE: To evaluate factors that lead to the diagnosis of hemochromat osis probands in a community hospital, including education of physicia ns about hemochromatosis and iron overload, specialty of physicians, d iagnostic indicators of hemochromatosis, and clinical manifestations o f hemochromatosis probands. PATIENTS AND METHODS: We conducted a hemoc hromatosis education program for health care personnel associated with a community hospital and the public during 1990 to 1994. Data on phys icians who diagnosed probands, diagnostic indicators of hemochromatosi s, and manifestations of hemochromatosis and associated illnesses were tabulated. Iron grades of all hospital liver biopsy specimens obtaine d from Caucasian subjects during 1990 to 1994 were also analyzed. RESU LTS: We identified 162 hemochromatosis probands; 66.7% were diagnosed by physicians who participated in our education program. Primary care and internal medicine subspecialty physicians diagnosed 66.7% and 29.6 % of probands, respectively, based on elevated serum iron parameters a nd hepatic enzyme concentrations (51.9% and 36.4% of probands, respect ively). Iron overload occurred in 90.7%, and was associated with clini cal manifestations in most. Of 844 hospital liver biopsy specimens fro m Caucasians, 8.5% had increased iron grades; 4.6% represented hemochr omatosis. CONCLUSIONS: Physicians with current education readily diagn ose hemochromatosis probands during routine health care delivery, but most probands identified in this manner have iron overload. Our result s suggest that community physicians and hospitals could contribute sub stantially to hemochromatosis screening programs, permitting detection of more homozygotes before the development of iron overload. (C) 1997 by Excerpta Medica, Inc.