Time is of the Essence: Using Extended Hemin Treatment for a Case of Severe Acute Intermittent Porphyria

Acute intermittent porphyria (AIP) is a disorder that affects heme synthesis, leading to accumulation of upstream precursors, and can cause an array of visceral and neurological symptoms. These can be severely debilitating and even fatal if not diagnosed and treated in a timely fashion. We outline a...

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Autores principales: Kumar, Smriti Rajita, Byrnes, Diana, Mahfouz, Mahmoud, Rosenblatt, Joseph, Levy, Cynthia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9270598/
https://www.ncbi.nlm.nih.gov/pubmed/35822158
http://dx.doi.org/10.14309/crj.0000000000000827
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author Kumar, Smriti Rajita
Byrnes, Diana
Mahfouz, Mahmoud
Rosenblatt, Joseph
Levy, Cynthia
author_facet Kumar, Smriti Rajita
Byrnes, Diana
Mahfouz, Mahmoud
Rosenblatt, Joseph
Levy, Cynthia
author_sort Kumar, Smriti Rajita
collection PubMed
description Acute intermittent porphyria (AIP) is a disorder that affects heme synthesis, leading to accumulation of upstream precursors, and can cause an array of visceral and neurological symptoms. These can be severely debilitating and even fatal if not diagnosed and treated in a timely fashion. We outline a rare case of severe AIP masquerading as ascending polyneuropathy and how it was correctly diagnosed and treated with an extended course of hemin despite initial barriers to biochemical testing for AIP.
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spelling pubmed-92705982022-07-11 Time is of the Essence: Using Extended Hemin Treatment for a Case of Severe Acute Intermittent Porphyria Kumar, Smriti Rajita Byrnes, Diana Mahfouz, Mahmoud Rosenblatt, Joseph Levy, Cynthia ACG Case Rep J Case Report Acute intermittent porphyria (AIP) is a disorder that affects heme synthesis, leading to accumulation of upstream precursors, and can cause an array of visceral and neurological symptoms. These can be severely debilitating and even fatal if not diagnosed and treated in a timely fashion. We outline a rare case of severe AIP masquerading as ascending polyneuropathy and how it was correctly diagnosed and treated with an extended course of hemin despite initial barriers to biochemical testing for AIP. Wolters Kluwer 2022-07-11 /pmc/articles/PMC9270598/ /pubmed/35822158 http://dx.doi.org/10.14309/crj.0000000000000827 Text en © 2022 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of The American College of Gastroenterology. https://creativecommons.org/licenses/by-nc-nd/4.0/This is an open access article distributed under the terms of the Creative Commons Attribution-Non Commercial-No Derivatives License 4.0 (CCBY-NC-ND) (https://creativecommons.org/licenses/by-nc-nd/4.0/) , where it is permissible to download and share the work provided it is properly cited. The work cannot be changed in any way or used commercially without permission from the journal.
spellingShingle Case Report
Kumar, Smriti Rajita
Byrnes, Diana
Mahfouz, Mahmoud
Rosenblatt, Joseph
Levy, Cynthia
Time is of the Essence: Using Extended Hemin Treatment for a Case of Severe Acute Intermittent Porphyria
title Time is of the Essence: Using Extended Hemin Treatment for a Case of Severe Acute Intermittent Porphyria
title_full Time is of the Essence: Using Extended Hemin Treatment for a Case of Severe Acute Intermittent Porphyria
title_fullStr Time is of the Essence: Using Extended Hemin Treatment for a Case of Severe Acute Intermittent Porphyria
title_full_unstemmed Time is of the Essence: Using Extended Hemin Treatment for a Case of Severe Acute Intermittent Porphyria
title_short Time is of the Essence: Using Extended Hemin Treatment for a Case of Severe Acute Intermittent Porphyria
title_sort time is of the essence: using extended hemin treatment for a case of severe acute intermittent porphyria
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9270598/
https://www.ncbi.nlm.nih.gov/pubmed/35822158
http://dx.doi.org/10.14309/crj.0000000000000827
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