Acute porphyrias – A neurological perspective

Abstract Acute hepatic porphyrias (AHP) can cause severe neurological symptoms involving the central, autonomic, and peripheral nervous system. Due to their relative rarity and their chameleon‐like presentation, delayed diagnosis and misdiagnosis are common. AHPs are genetically inherited disorders...

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Autores principales:	Lea M. Gerischer, Franziska Scheibe, Astrid Nümann, Martin Köhnlein, Ulrich Stölzel, Andreas Meisel
Formato:	article
Lenguaje:	EN
Publicado:	Wiley 2021
Materias:	acute porphyria autoimmune encephalitis Guillain‐Barré syndrome porphyric encephalopathy porphyric neuropathy Neurosciences. Biological psychiatry. Neuropsychiatry RC321-571
Acceso en línea:	https://doaj.org/article/f34b13f667764ceabf9929202318d941
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spelling	oai:doaj.org-article:f34b13f667764ceabf9929202318d9412021-11-25T06:06:36ZAcute porphyrias – A neurological perspective2162-327910.1002/brb3.2389https://doaj.org/article/f34b13f667764ceabf9929202318d9412021-11-01T00:00:00Zhttps://doi.org/10.1002/brb3.2389https://doaj.org/toc/2162-3279Abstract Acute hepatic porphyrias (AHP) can cause severe neurological symptoms involving the central, autonomic, and peripheral nervous system. Due to their relative rarity and their chameleon‐like presentation, delayed diagnosis and misdiagnosis are common. AHPs are genetically inherited disorders that result from heme biosynthesis enzyme deficiencies and comprise four forms: acute intermittent porphyria (AIP), variegate porphyria (VP), hereditary coproporphyria (HCP), and ALA‐dehydratase porphyria (ALADP). Depending on the clinical presentation, the main differential diagnoses are Guillain‐Barré syndrome and autoimmune encephalitis. Red flags that could raise the suspicion of acute porphyria are neurological symptoms starting after severe (abdominal) pain, in association with reddish urine, hyponatremia or photodermatitis, and the presence of encephalopathy and/or axonal neuropathy. We highlight the diagnostic difficulties by presenting three cases from our neurological intensive care unit and give a comprehensive overview about the diagnostic findings in imaging, electrophysiology, and neuropathology.Lea M. GerischerFranziska ScheibeAstrid NümannMartin KöhnleinUlrich StölzelAndreas MeiselWileyarticleacute porphyriaautoimmune encephalitisGuillain‐Barré syndromeporphyric encephalopathyporphyric neuropathyNeurosciences. Biological psychiatry. NeuropsychiatryRC321-571ENBrain and Behavior, Vol 11, Iss 11, Pp n/a-n/a (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	acute porphyria autoimmune encephalitis Guillain‐Barré syndrome porphyric encephalopathy porphyric neuropathy Neurosciences. Biological psychiatry. Neuropsychiatry RC321-571
spellingShingle	acute porphyria autoimmune encephalitis Guillain‐Barré syndrome porphyric encephalopathy porphyric neuropathy Neurosciences. Biological psychiatry. Neuropsychiatry RC321-571 Lea M. Gerischer Franziska Scheibe Astrid Nümann Martin Köhnlein Ulrich Stölzel Andreas Meisel Acute porphyrias – A neurological perspective
description	Abstract Acute hepatic porphyrias (AHP) can cause severe neurological symptoms involving the central, autonomic, and peripheral nervous system. Due to their relative rarity and their chameleon‐like presentation, delayed diagnosis and misdiagnosis are common. AHPs are genetically inherited disorders that result from heme biosynthesis enzyme deficiencies and comprise four forms: acute intermittent porphyria (AIP), variegate porphyria (VP), hereditary coproporphyria (HCP), and ALA‐dehydratase porphyria (ALADP). Depending on the clinical presentation, the main differential diagnoses are Guillain‐Barré syndrome and autoimmune encephalitis. Red flags that could raise the suspicion of acute porphyria are neurological symptoms starting after severe (abdominal) pain, in association with reddish urine, hyponatremia or photodermatitis, and the presence of encephalopathy and/or axonal neuropathy. We highlight the diagnostic difficulties by presenting three cases from our neurological intensive care unit and give a comprehensive overview about the diagnostic findings in imaging, electrophysiology, and neuropathology.
format	article
author	Lea M. Gerischer Franziska Scheibe Astrid Nümann Martin Köhnlein Ulrich Stölzel Andreas Meisel
author_facet	Lea M. Gerischer Franziska Scheibe Astrid Nümann Martin Köhnlein Ulrich Stölzel Andreas Meisel
author_sort	Lea M. Gerischer
title	Acute porphyrias – A neurological perspective
title_short	Acute porphyrias – A neurological perspective
title_full	Acute porphyrias – A neurological perspective
title_fullStr	Acute porphyrias – A neurological perspective
title_full_unstemmed	Acute porphyrias – A neurological perspective
title_sort	acute porphyrias – a neurological perspective
publisher	Wiley
publishDate	2021
url	https://doaj.org/article/f34b13f667764ceabf9929202318d941
work_keys_str_mv	AT leamgerischer acuteporphyriasaneurologicalperspective AT franziskascheibe acuteporphyriasaneurologicalperspective AT astridnumann acuteporphyriasaneurologicalperspective AT martinkohnlein acuteporphyriasaneurologicalperspective AT ulrichstolzel acuteporphyriasaneurologicalperspective AT andreasmeisel acuteporphyriasaneurologicalperspective
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Acute porphyrias – A neurological perspective

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