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...

Descripción completa

Guardado en:
Detalles Bibliográficos
Autores principales: Lea M. Gerischer, Franziska Scheibe, Astrid Nümann, Martin Köhnlein, Ulrich Stölzel, Andreas Meisel
Formato: article
Lenguaje:EN
Publicado: Wiley 2021
Materias:
Acceso en línea:https://doaj.org/article/f34b13f667764ceabf9929202318d941
Etiquetas: Agregar Etiqueta
Sin Etiquetas, Sea el primero en etiquetar este registro!
id oai:doaj.org-article:f34b13f667764ceabf9929202318d941
record_format dspace
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
_version_ 1718414198740877312