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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...

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Detalles Bibliográficos
Autores principales: Ramzan, Adil, Cao, Jenny Jia Ling, Frazer, John S, Stein, Penelope, Ahmad, Shakeel
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2023
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.
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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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