TY - JOUR T1 - Environmental causes of copper toxicity should not be forgotten in familial presentations JF - Journal of Clinical Pathology JO - J Clin Pathol SP - 691 LP - 691 DO - 10.1136/jclinpath-2020-207362 VL - 74 IS - 11 AU - Janice Lee Veronica Reeve AU - Patrick J Twomey AU - Ingrid Borovickova Y1 - 2021/11/01 UR - http://jcp.bmj.com/content/74/11/691.abstract N2 - 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 … ER -