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The Mystery of Episodic Recurrent Jaundice in a Young Male: Cholestasis With a Normal Gamma-Glutamyl Transferase

Benign recurrent intrahepatic cholestasis (BRIC) is a very rare autosomal recessive genetic disorder which presents with recurrent jaundice. We report the case of a young male with a history of methamphetamine use who presented with recurrent episodes of right upper quadrant abdominal pain, vomiting...

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Autores principales: Gupta, Samiksha, Ali, Ijlal Akbar, Abreo, Eleanor, Gujju, Veena, Hayat, Maham
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8036134/
https://www.ncbi.nlm.nih.gov/pubmed/33854852
http://dx.doi.org/10.7759/cureus.13834
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author Gupta, Samiksha
Ali, Ijlal Akbar
Abreo, Eleanor
Gujju, Veena
Hayat, Maham
author_facet Gupta, Samiksha
Ali, Ijlal Akbar
Abreo, Eleanor
Gujju, Veena
Hayat, Maham
author_sort Gupta, Samiksha
collection PubMed
description Benign recurrent intrahepatic cholestasis (BRIC) is a very rare autosomal recessive genetic disorder which presents with recurrent jaundice. We report the case of a young male with a history of methamphetamine use who presented with recurrent episodes of right upper quadrant abdominal pain, vomiting, dark urine, and pale stools. These symptoms always resolved within four weeks of presentation. During these episodes, the patient had a cholestatic pattern derangement of liver function tests with a normal gamma-glutamyl transferase (GGT). Workup for abnormal transaminases was unremarkable. A percutaneous liver biopsy obtained on the third visit was notable for a parenchymal lobule that exhibited slight Kupffer cell hyperplasia and subtle evidence of canalicular cholestasis. There was no evidence of cirrhosis, steatosis, hepatitis, or malignancy. Thus, a diagnosis of BRIC was made, and the patient was managed conservatively. Recognition of this rare entity is critical since its benign natural history is reassuring for the patient, and physicians can refrain from repetitive expansive and costly workups.
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spelling pubmed-80361342021-04-13 The Mystery of Episodic Recurrent Jaundice in a Young Male: Cholestasis With a Normal Gamma-Glutamyl Transferase Gupta, Samiksha Ali, Ijlal Akbar Abreo, Eleanor Gujju, Veena Hayat, Maham Cureus Genetics Benign recurrent intrahepatic cholestasis (BRIC) is a very rare autosomal recessive genetic disorder which presents with recurrent jaundice. We report the case of a young male with a history of methamphetamine use who presented with recurrent episodes of right upper quadrant abdominal pain, vomiting, dark urine, and pale stools. These symptoms always resolved within four weeks of presentation. During these episodes, the patient had a cholestatic pattern derangement of liver function tests with a normal gamma-glutamyl transferase (GGT). Workup for abnormal transaminases was unremarkable. A percutaneous liver biopsy obtained on the third visit was notable for a parenchymal lobule that exhibited slight Kupffer cell hyperplasia and subtle evidence of canalicular cholestasis. There was no evidence of cirrhosis, steatosis, hepatitis, or malignancy. Thus, a diagnosis of BRIC was made, and the patient was managed conservatively. Recognition of this rare entity is critical since its benign natural history is reassuring for the patient, and physicians can refrain from repetitive expansive and costly workups. Cureus 2021-03-11 /pmc/articles/PMC8036134/ /pubmed/33854852 http://dx.doi.org/10.7759/cureus.13834 Text en Copyright © 2021, Gupta et al. https://creativecommons.org/licenses/by/3.0/This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
spellingShingle Genetics
Gupta, Samiksha
Ali, Ijlal Akbar
Abreo, Eleanor
Gujju, Veena
Hayat, Maham
The Mystery of Episodic Recurrent Jaundice in a Young Male: Cholestasis With a Normal Gamma-Glutamyl Transferase
title The Mystery of Episodic Recurrent Jaundice in a Young Male: Cholestasis With a Normal Gamma-Glutamyl Transferase
title_full The Mystery of Episodic Recurrent Jaundice in a Young Male: Cholestasis With a Normal Gamma-Glutamyl Transferase
title_fullStr The Mystery of Episodic Recurrent Jaundice in a Young Male: Cholestasis With a Normal Gamma-Glutamyl Transferase
title_full_unstemmed The Mystery of Episodic Recurrent Jaundice in a Young Male: Cholestasis With a Normal Gamma-Glutamyl Transferase
title_short The Mystery of Episodic Recurrent Jaundice in a Young Male: Cholestasis With a Normal Gamma-Glutamyl Transferase
title_sort mystery of episodic recurrent jaundice in a young male: cholestasis with a normal gamma-glutamyl transferase
topic Genetics
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8036134/
https://www.ncbi.nlm.nih.gov/pubmed/33854852
http://dx.doi.org/10.7759/cureus.13834
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