HFE hemochromatosis and hepatic sarcoid.
A 57-year-old white woman had serum ferritin 793 ng/mL, HFE C282Y homozygosity, elevated serum angiotensin-converting enzyme (ACE) levels, 3+ hepatocyte iron, cirrhosis, hepatic granulomas, and portal hypertension. Her 37-year-old son had ferritin 869 ng/mL, C282Y/wt, elevated ACE levels, 2+ hepatocyte iron, bridging fibrosis, and hepatic granulomas. Her daughters had HFE C282Y/H63D and C282Y/wt, respectively; neither had a hemochromatosis phenotype, sarcoid, or severe liver disease. All 4 subjects had nonalcoholic hepatic steatosis. Sarcoid did not segregate with the human leukocyte antigen-A and -B haplotype shared by the proband, her son, and 1 daughter. Phlebotomy to achieve iron depletion in the proband and her son yielded 1.6 and 1.5 g iron, respectively; their ACE levels remained elevated. We reviewed previous reports of 4 patients with hemochromatosis and sarcoid. We conclude that a combination of sarcoid, steatosis, and excessive hepatocyte iron caused cirrhosis or hepatic fibrosis in the proband and her son.
Southern Iron Disorders Center, Birmingham, Alabama, USA. ironmd@dnamail.com
James C
JC
Barton
Brendan M
BM
McGuire
Ronald T
RT
Acton
D000328:Adult; D005192:Family Health; D005260:Female; D005355:Fibrosis / Q000150:complications / Q000175:diagnosis / Q000235:genetics; D005838:Genotype; D006099:Granuloma / Q000150:complications* / Q000175:diagnosis* / Q000235:genetics; D006432:Hemochromatosis / Q000150:complications* / Q000175:diagnosis* / Q000235:genetics; D022781:Hepatocytes / Q000378:metabolism; D006579:Heterozygote; D006801:Humans; D008103:Liver Cirrhosis / Q000150:complications / Q000175:diagnosis / Q000235:genetics; D008107:Liver Diseases / Q000150:complications* / Q000175:diagnosis* / Q000235:genetics; D008297:Male; D008875:Middle Aged; D012507:Sarcoidosis / Q000150:complications* / Q000175:diagnosis* / Q000235:genetics