Non-HFE hereditary haemochromatosis presenting as hepatic encephalopathy

N. Nand; S. Aggarwal; M. Yadav; R. Mathur; S. Dsouza

Non-HFE hereditary haemochromatosis presenting as hepatic encephalopathy

N. Nand, S. Aggarwal, M. Yadav, R. Mathur, S. Dsouza

Department of Medicine, Kasturba Medical College, Manipal

Research output: Contribution to journal › Article › peer-review

Abstract

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.

Original language	English
Pages (from-to)	121-123
Number of pages	3
Journal	Journal, Indian Academy of Clinical Medicine
Volume	18
Issue number	2
Publication status	Published - 01-04-2017

All Science Journal Classification (ASJC) codes

Medicine(all)

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

Cite this

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title = "Non-HFE hereditary haemochromatosis presenting as hepatic encephalopathy",

abstract = "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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AU - Aggarwal, S.

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AU - Mathur, R.

AU - Dsouza, S.

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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Non-HFE hereditary haemochromatosis presenting as hepatic encephalopathy

Abstract

All Science Journal Classification (ASJC) codes

UN SDGs

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