Non-HFE hereditary haemochromatosis presenting as hepatic encephalopathy

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

Research output: Contribution to journalArticle

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 languageEnglish
Pages (from-to)121-123
Number of pages3
JournalJournal, Indian Academy of Clinical Medicine
Volume18
Issue number2
Publication statusPublished - 01-04-2017

Fingerprint

Hemochromatosis
Hepatic Encephalopathy
Hyperpigmentation
Inborn Genetic Diseases
Hypogonadism
Liver Cirrhosis
Diabetes Mellitus
Iron
Biopsy
Mutation
Liver

All Science Journal Classification (ASJC) codes

  • Medicine(all)

Cite this

Nand, N. ; Aggarwal, S. ; Yadav, M. ; Mathur, R. ; Dsouza, S. / Non-HFE hereditary haemochromatosis presenting as hepatic encephalopathy. In: Journal, Indian Academy of Clinical Medicine. 2017 ; Vol. 18, No. 2. pp. 121-123.
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Non-HFE hereditary haemochromatosis presenting as hepatic encephalopathy. / Nand, N.; Aggarwal, S.; Yadav, M.; Mathur, R.; Dsouza, S.

In: Journal, Indian Academy of Clinical Medicine, Vol. 18, No. 2, 01.04.2017, p. 121-123.

Research output: Contribution to journalArticle

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