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Fulminant hepatic failure in the setting of progressive ANCA-associated vasculitis associated with a rare alpha-1 antitrypsin phenotype, ’PiEE'
Abnormalities in alpha-1 antitrypsin (AAT) proteins are risk factors for human disease. While the most common is AAT deficiency, a genetic disorder associated with chronic obstructive pulmonary disease, additional disorders associated with AAT abnormalities are increasingly recognised. We describe a...
Autores principales: | , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BMJ Publishing Group
2018
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5878378/ https://www.ncbi.nlm.nih.gov/pubmed/29592975 http://dx.doi.org/10.1136/bcr-2017-222036 |
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author | Reilkoff, Ronald Stephenson, Laurel |
author_facet | Reilkoff, Ronald Stephenson, Laurel |
author_sort | Reilkoff, Ronald |
collection | PubMed |
description | Abnormalities in alpha-1 antitrypsin (AAT) proteins are risk factors for human disease. While the most common is AAT deficiency, a genetic disorder associated with chronic obstructive pulmonary disease, additional disorders associated with AAT abnormalities are increasingly recognised. We describe a middle-aged woman who presented with fulminant hepatic and multiorgan failure. Evaluation revealed the patient to have a rare AAT phenotype PiEE. Her clinical presentation was consistent with antineutrophilic cytoplasmic antibody-associated vasculitis, and her history suggested features of panniculitis. This is the first description of this rare homozygous AAT phenotype and possible disease associations with the ’E' protein. Given that abnormal AAT are under-recognised, and that new mutations and phenotypes continue to be identified, we will need to expand on our knowledge base and report clinical manifestations associated with these abnormal phenotypes. |
format | Online Article Text |
id | pubmed-5878378 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2018 |
publisher | BMJ Publishing Group |
record_format | MEDLINE/PubMed |
spelling | pubmed-58783782018-04-03 Fulminant hepatic failure in the setting of progressive ANCA-associated vasculitis associated with a rare alpha-1 antitrypsin phenotype, ’PiEE' Reilkoff, Ronald Stephenson, Laurel BMJ Case Rep Unusual Association of Diseases/Symptoms Abnormalities in alpha-1 antitrypsin (AAT) proteins are risk factors for human disease. While the most common is AAT deficiency, a genetic disorder associated with chronic obstructive pulmonary disease, additional disorders associated with AAT abnormalities are increasingly recognised. We describe a middle-aged woman who presented with fulminant hepatic and multiorgan failure. Evaluation revealed the patient to have a rare AAT phenotype PiEE. Her clinical presentation was consistent with antineutrophilic cytoplasmic antibody-associated vasculitis, and her history suggested features of panniculitis. This is the first description of this rare homozygous AAT phenotype and possible disease associations with the ’E' protein. Given that abnormal AAT are under-recognised, and that new mutations and phenotypes continue to be identified, we will need to expand on our knowledge base and report clinical manifestations associated with these abnormal phenotypes. BMJ Publishing Group 2018-03-28 /pmc/articles/PMC5878378/ /pubmed/29592975 http://dx.doi.org/10.1136/bcr-2017-222036 Text en © BMJ Publishing Group Ltd (unless otherwise stated in the text of the article) 2018. All rights reserved. No commercial use is permitted unless otherwise expressly granted. This is an Open Access article distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/ |
spellingShingle | Unusual Association of Diseases/Symptoms Reilkoff, Ronald Stephenson, Laurel Fulminant hepatic failure in the setting of progressive ANCA-associated vasculitis associated with a rare alpha-1 antitrypsin phenotype, ’PiEE' |
title | Fulminant hepatic failure in the setting of progressive ANCA-associated vasculitis associated with a rare alpha-1 antitrypsin phenotype, ’PiEE' |
title_full | Fulminant hepatic failure in the setting of progressive ANCA-associated vasculitis associated with a rare alpha-1 antitrypsin phenotype, ’PiEE' |
title_fullStr | Fulminant hepatic failure in the setting of progressive ANCA-associated vasculitis associated with a rare alpha-1 antitrypsin phenotype, ’PiEE' |
title_full_unstemmed | Fulminant hepatic failure in the setting of progressive ANCA-associated vasculitis associated with a rare alpha-1 antitrypsin phenotype, ’PiEE' |
title_short | Fulminant hepatic failure in the setting of progressive ANCA-associated vasculitis associated with a rare alpha-1 antitrypsin phenotype, ’PiEE' |
title_sort | fulminant hepatic failure in the setting of progressive anca-associated vasculitis associated with a rare alpha-1 antitrypsin phenotype, ’piee' |
topic | Unusual Association of Diseases/Symptoms |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5878378/ https://www.ncbi.nlm.nih.gov/pubmed/29592975 http://dx.doi.org/10.1136/bcr-2017-222036 |
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