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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...
Autores principales: | , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Greater Baltimore Medical Center
2023
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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. |
format | Online Article Text |
id | pubmed-10589034 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2023 |
publisher | Greater Baltimore Medical Center |
record_format | MEDLINE/PubMed |
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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