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A Case of Acute Intermittent Porphyria Leading to Severe Disability in a Young 21-Year-Old Female
Acute intermittent porphyria (AIP) is a rare metabolic disorder that is challenging to diagnose and treat. Symptoms are nonspecific and severe acute attacks may be life-threatening. This is a case of a previously healthy 21-year-old woman diagnosed with an acute attack of AIP following recurrent hos...
Autores principales: | , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Cureus
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10005849/ https://www.ncbi.nlm.nih.gov/pubmed/36909084 http://dx.doi.org/10.7759/cureus.34757 |
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author | Ramzan, Adil Cao, Jenny Jia Ling Frazer, John S Stein, Penelope Ahmad, Shakeel |
author_facet | Ramzan, Adil Cao, Jenny Jia Ling Frazer, John S Stein, Penelope Ahmad, Shakeel |
author_sort | Ramzan, Adil |
collection | PubMed |
description | Acute intermittent porphyria (AIP) is a rare metabolic disorder that is challenging to diagnose and treat. Symptoms are nonspecific and severe acute attacks may be life-threatening. This is a case of a previously healthy 21-year-old woman diagnosed with an acute attack of AIP following recurrent hospitalizations with undiagnosed abdominal pain over a 12-month period with gradual onset of motor neuropathy which resulted in complete paralysis and respiratory failure. Through our case, we will highlight the challenges in AIP diagnosis and management, its potential severity, and how an early diagnosis could have prevented severe disability. |
format | Online Article Text |
id | pubmed-10005849 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2023 |
publisher | Cureus |
record_format | MEDLINE/PubMed |
spelling | pubmed-100058492023-03-11 A Case of Acute Intermittent Porphyria Leading to Severe Disability in a Young 21-Year-Old Female Ramzan, Adil Cao, Jenny Jia Ling Frazer, John S Stein, Penelope Ahmad, Shakeel Cureus Emergency Medicine Acute intermittent porphyria (AIP) is a rare metabolic disorder that is challenging to diagnose and treat. Symptoms are nonspecific and severe acute attacks may be life-threatening. This is a case of a previously healthy 21-year-old woman diagnosed with an acute attack of AIP following recurrent hospitalizations with undiagnosed abdominal pain over a 12-month period with gradual onset of motor neuropathy which resulted in complete paralysis and respiratory failure. Through our case, we will highlight the challenges in AIP diagnosis and management, its potential severity, and how an early diagnosis could have prevented severe disability. Cureus 2023-02-08 /pmc/articles/PMC10005849/ /pubmed/36909084 http://dx.doi.org/10.7759/cureus.34757 Text en Copyright © 2023, Ramzan 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 | Emergency Medicine Ramzan, Adil Cao, Jenny Jia Ling Frazer, John S Stein, Penelope Ahmad, Shakeel A Case of Acute Intermittent Porphyria Leading to Severe Disability in a Young 21-Year-Old Female |
title | A Case of Acute Intermittent Porphyria Leading to Severe Disability in a Young 21-Year-Old Female |
title_full | A Case of Acute Intermittent Porphyria Leading to Severe Disability in a Young 21-Year-Old Female |
title_fullStr | A Case of Acute Intermittent Porphyria Leading to Severe Disability in a Young 21-Year-Old Female |
title_full_unstemmed | A Case of Acute Intermittent Porphyria Leading to Severe Disability in a Young 21-Year-Old Female |
title_short | A Case of Acute Intermittent Porphyria Leading to Severe Disability in a Young 21-Year-Old Female |
title_sort | case of acute intermittent porphyria leading to severe disability in a young 21-year-old female |
topic | Emergency Medicine |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10005849/ https://www.ncbi.nlm.nih.gov/pubmed/36909084 http://dx.doi.org/10.7759/cureus.34757 |
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