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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
Descripción
Sumario: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.