HEREDITARY HEMOCHROMATOSIS IN AN INDIAN MAN TREATED WITH ERYTHROPOIETIN

Abstract

Mr. R.S., a 62 year old man of Indian descent, was evaluated in 1997 for abnormal liver enzymes (transaminases 1–2 times ULN). He had developed non-insulin dependent diabetes mellitus several years prior. He had coronary artery disease, hypercholesterolemia, hypertension and gout, for which he was on multiple medications, including simvastatin. His father had died of liver disease attributed to alcohol abuse. Mr. R.S. admitted to excessive alcohol consumption until four months prior when he had quit on the advice of his physician. Chronic viral hepatitis was excluded and his transaminitis was thought to be due to medications and fatty liver. In 2001 he was referred for evaluation of anemia and abdominal pain. He had developed chronic renal insufficiency. During colonoscopy, two small adenomatous polyps were excised. Upper endoscopy was normal. His liver profile was still abnormal, however, and he was investigated for chronic hepatitis. Ferritin was 3153 mg/ml (ULN 400 mg/ml). Fatty liver was reported on ultrasound. He was homozygous for His63Asp mutation for hereditary hemochromatosis. Liver biopsy showed inflammation and fibrosis, iron overload and moderate steatosis. The patient had two phlebotomies. His hemoglobin fell from 99 g/l to 64 g/l while his ferritin decreased to 1239 mg/l. Phlebotomies were held and he started erythropoietin. The hemoglobin recovered to 90 g/l and he had a third phlebotomy. He remained on erythropoietin and four months later had another phlebotomy after which his hemoglobin was 102 g/l and ferritin 276 mg/l. Over the subsequent 18 months he continued erythropoietin but had no further phlebotomies. He stopped erythropoietin 9 months ago. His hemoglobin is stable at 123 g/l and ferritin 48 mg/l. This case highlights important issues in the diagnosis and management of hemochromatosis. Features of hemochromatosis were evident at this patient's first presentation in 1997, underscoring the importance of complete investigations into causes of chronic hepatitis. This case also demonstrates that one should not limit the search for hemochromatosis to Caucasians. Lastly, this patient's renal insufficiency caused erythropoietin deficiency and anemia that made replacement of this hormone a key element of therapy. Increased erythropoiesis induced by erythropoietin allowed utilization of the excess iron.