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Needle in a Haystack: Acute Intermittent Porphyria, an Often-missed Differential Diagnosis of Abdominal Pain

Acute intermittent porphyria (AIP) is a rare disease that arises due to deficiency of the biosynthetic enzyme porphobilinogen deaminase (PBGD) involved in heme synthesis. Acute attacks can present with abdominal pain and neurological symptoms, although vague in nature. Recurrent hospitalizations for...

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Autores principales: Onyechi, Afoma, Ohemeng-Dapaah, Jessica, Shaba, Winnie, Oyenuga, Mosunmoluwa, Lacasse, Alexandre, Sandeep, Sen, Jadhav, Amar, Kumar, Vikas, Pante, Aditya
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Greater Baltimore Medical Center 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10589034/
https://www.ncbi.nlm.nih.gov/pubmed/37868674
http://dx.doi.org/10.55729/2000-9666.1232
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author Onyechi, Afoma
Ohemeng-Dapaah, Jessica
Shaba, Winnie
Oyenuga, Mosunmoluwa
Lacasse, Alexandre
Sandeep, Sen
Jadhav, Amar
Kumar, Vikas
Pante, Aditya
author_facet Onyechi, Afoma
Ohemeng-Dapaah, Jessica
Shaba, Winnie
Oyenuga, Mosunmoluwa
Lacasse, Alexandre
Sandeep, Sen
Jadhav, Amar
Kumar, Vikas
Pante, Aditya
author_sort Onyechi, Afoma
collection PubMed
description Acute intermittent porphyria (AIP) is a rare disease that arises due to deficiency of the biosynthetic enzyme porphobilinogen deaminase (PBGD) involved in heme synthesis. Acute attacks can present with abdominal pain and neurological symptoms, although vague in nature. Recurrent hospitalizations for idiopathic intermittent abdominal pain should warrant investigation for AIP. Posterior reversible encephalopathy (PRES) presents with visual disturbances and seizure-like activity and can be, although rarely, associated with AIP. It is noteworthy to know that antiepileptic medication used in management of PRES can in turn worsen AIP.
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spelling pubmed-105890342023-10-21 Needle in a Haystack: Acute Intermittent Porphyria, an Often-missed Differential Diagnosis of Abdominal Pain Onyechi, Afoma Ohemeng-Dapaah, Jessica Shaba, Winnie Oyenuga, Mosunmoluwa Lacasse, Alexandre Sandeep, Sen Jadhav, Amar Kumar, Vikas Pante, Aditya J Community Hosp Intern Med Perspect Case Report Acute intermittent porphyria (AIP) is a rare disease that arises due to deficiency of the biosynthetic enzyme porphobilinogen deaminase (PBGD) involved in heme synthesis. Acute attacks can present with abdominal pain and neurological symptoms, although vague in nature. Recurrent hospitalizations for idiopathic intermittent abdominal pain should warrant investigation for AIP. Posterior reversible encephalopathy (PRES) presents with visual disturbances and seizure-like activity and can be, although rarely, associated with AIP. It is noteworthy to know that antiepileptic medication used in management of PRES can in turn worsen AIP. Greater Baltimore Medical Center 2023-09-02 /pmc/articles/PMC10589034/ /pubmed/37868674 http://dx.doi.org/10.55729/2000-9666.1232 Text en © 2023 Greater Baltimore Medical Center https://creativecommons.org/licenses/by-nc/4.0/This is an open access article under the CC BY-NC license (http://creativecommons.org/licenses/by-nc/4.0/ (https://creativecommons.org/licenses/by-nc/4.0/) ).
spellingShingle Case Report
Onyechi, Afoma
Ohemeng-Dapaah, Jessica
Shaba, Winnie
Oyenuga, Mosunmoluwa
Lacasse, Alexandre
Sandeep, Sen
Jadhav, Amar
Kumar, Vikas
Pante, Aditya
Needle in a Haystack: Acute Intermittent Porphyria, an Often-missed Differential Diagnosis of Abdominal Pain
title Needle in a Haystack: Acute Intermittent Porphyria, an Often-missed Differential Diagnosis of Abdominal Pain
title_full Needle in a Haystack: Acute Intermittent Porphyria, an Often-missed Differential Diagnosis of Abdominal Pain
title_fullStr Needle in a Haystack: Acute Intermittent Porphyria, an Often-missed Differential Diagnosis of Abdominal Pain
title_full_unstemmed Needle in a Haystack: Acute Intermittent Porphyria, an Often-missed Differential Diagnosis of Abdominal Pain
title_short Needle in a Haystack: Acute Intermittent Porphyria, an Often-missed Differential Diagnosis of Abdominal Pain
title_sort needle in a haystack: acute intermittent porphyria, an often-missed differential diagnosis of abdominal pain
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10589034/
https://www.ncbi.nlm.nih.gov/pubmed/37868674
http://dx.doi.org/10.55729/2000-9666.1232
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