TY - JOUR
T1 - Non-HFE hereditary haemochromatosis presenting as hepatic encephalopathy
AU - Nand, N.
AU - Aggarwal, S.
AU - Yadav, M.
AU - Mathur, R.
AU - Dsouza, S.
N1 - Publisher Copyright:
© 2017, Indian Academy of Clinical Medicine. All rights reserved.
PY - 2017/4/1
Y1 - 2017/4/1
N2 - Hereditary haemochromatosis is a heterogeneous genetic disorder inherited as an autosomal recessive trait. We describe a case of a 52-year-old male who presented with clinical features of hepatic encephalopathy and was found to have cirrhosis of liver, hyperpigmentation, diabetes mellitus and hypogonadism. Laboratory investigation revealed evidence of haemochromatosis based on iron studies and liver biopsy with absent HFE mutation.
AB - Hereditary haemochromatosis is a heterogeneous genetic disorder inherited as an autosomal recessive trait. We describe a case of a 52-year-old male who presented with clinical features of hepatic encephalopathy and was found to have cirrhosis of liver, hyperpigmentation, diabetes mellitus and hypogonadism. Laboratory investigation revealed evidence of haemochromatosis based on iron studies and liver biopsy with absent HFE mutation.
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M3 - Article
AN - SCOPUS:85053513373
SN - 0972-3560
VL - 18
SP - 121
EP - 123
JO - Journal, Indian Academy of Clinical Medicine
JF - Journal, Indian Academy of Clinical Medicine
IS - 2
ER -
