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Environmental causes of copper toxicity should not be forgotten in familial presentations
  1. Janice Lee Veronica Reeve1,
  2. Patrick J Twomey1,2,
  3. Ingrid Borovickova3
  1. 1 Clinical Chemistry, St Vincent’s University Hospital, Dublin, Ireland
  2. 2 University College Dublin School of Medicine, Dublin, Ireland
  3. 3 Department of Paediatric Laboratory Medicine, Children's Health Ireland at Temple Street, Dublin, Ireland
  1. Correspondence to Dr Patrick J Twomey, Clinical Chemistry, St Vincent's University Hospital, Dublin, Ireland; pattwomey{at}

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This case describes a 15-month boy with a 6-month history suggestive of liver disease. His similarly affected non-identical twin died and autopsy investigations were consistent with intrahepatic cholestasis, progressive liver damage complicated by cirrhosis/portal hypertension and vitamin D deficient rickets.

Cholestasis is common in liver disease.1 Familial cholestasis can be limited geographically/ethnically: Greenland Eskimo cholestasis, North American Indian cirrhosis, Turkish non-syndromic paucity of interlobular bile ducts, childhood cirrhosis in Arab Israelis, Tyrolean infantile cirrhosis and Indian childhood cirrhosis (ICC). Hepatic copper accumulation is a hallmark of ICC and on autopsy excessive copper was evident. Traditionally, copper exposure was most significant when raw/unpasteurised milk was boiled in copper pots—copper/brass-vessel usage has stopped since linkage to ICC accounting perhaps …

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  • Handling editor Tahir S Pillay.

  • Contributors PJT conceived the idea. IB developed the idea and drafted the manuscript with subsequent input from JLVR and PJT. All authors provided critical feedback and helped shape the analysis and contributed to the development of each version of the manuscript.

  • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

  • Competing interests None declared.

  • Provenance and peer review Commissioned; internally peer reviewed.

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