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Cryopyrin‐associated periodic syndrome with inflammatory bowel disease: A case study

Cryopyrin‐associated Periodic Syndrome (CAPS) is a rare, genetic autoinflammatory condition associated with NLRP3 gene mutations, causing upregulated innate immunity. CAPS manifests as systemic inflammation, causing a constellation of symptoms on a clinical spectrum of phenotypical severity: Familia...

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Detalles Bibliográficos
Autores principales: Raymond, Karen N, Martin, Jonathan E D
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wiley Publishing Asia Pty Ltd 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8114987/
https://www.ncbi.nlm.nih.gov/pubmed/34013066
http://dx.doi.org/10.1002/jgh3.12523
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author Raymond, Karen N
Martin, Jonathan E D
author_facet Raymond, Karen N
Martin, Jonathan E D
author_sort Raymond, Karen N
collection PubMed
description Cryopyrin‐associated Periodic Syndrome (CAPS) is a rare, genetic autoinflammatory condition associated with NLRP3 gene mutations, causing upregulated innate immunity. CAPS manifests as systemic inflammation, causing a constellation of symptoms on a clinical spectrum of phenotypical severity: Familial Cold Autoinflammatory Syndrome being the mildest, Muckle‐Wells Syndrome moderate, and Neonatal Onset Multisystem Inflammatory Disease the most severe, with phenotype spectrum overlap. The treatment in Australia for CAPS is interleukin‐1 blockade with receptor antagonist, anakinra. We describe the case of a 46‐year‐old female with CAPS who presented to the emergency department with severe abdominal pain. Sigmoidoscope revealed severe colitis with deep ulceration, which did not respond to hydrocortisone and azathioprine and was ultimately resolved by infliximab rescue therapy, maintained in combination with anakinra.
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spelling pubmed-81149872021-05-18 Cryopyrin‐associated periodic syndrome with inflammatory bowel disease: A case study Raymond, Karen N Martin, Jonathan E D JGH Open Case Report Cryopyrin‐associated Periodic Syndrome (CAPS) is a rare, genetic autoinflammatory condition associated with NLRP3 gene mutations, causing upregulated innate immunity. CAPS manifests as systemic inflammation, causing a constellation of symptoms on a clinical spectrum of phenotypical severity: Familial Cold Autoinflammatory Syndrome being the mildest, Muckle‐Wells Syndrome moderate, and Neonatal Onset Multisystem Inflammatory Disease the most severe, with phenotype spectrum overlap. The treatment in Australia for CAPS is interleukin‐1 blockade with receptor antagonist, anakinra. We describe the case of a 46‐year‐old female with CAPS who presented to the emergency department with severe abdominal pain. Sigmoidoscope revealed severe colitis with deep ulceration, which did not respond to hydrocortisone and azathioprine and was ultimately resolved by infliximab rescue therapy, maintained in combination with anakinra. Wiley Publishing Asia Pty Ltd 2021-03-09 /pmc/articles/PMC8114987/ /pubmed/34013066 http://dx.doi.org/10.1002/jgh3.12523 Text en © 2021 The Authors. JGH Open published by Journal of Gastroenterology and Hepatology Foundation and John Wiley & Sons Australia, Ltd. https://creativecommons.org/licenses/by/4.0/This is an open access article under the terms of the http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Raymond, Karen N
Martin, Jonathan E D
Cryopyrin‐associated periodic syndrome with inflammatory bowel disease: A case study
title Cryopyrin‐associated periodic syndrome with inflammatory bowel disease: A case study
title_full Cryopyrin‐associated periodic syndrome with inflammatory bowel disease: A case study
title_fullStr Cryopyrin‐associated periodic syndrome with inflammatory bowel disease: A case study
title_full_unstemmed Cryopyrin‐associated periodic syndrome with inflammatory bowel disease: A case study
title_short Cryopyrin‐associated periodic syndrome with inflammatory bowel disease: A case study
title_sort cryopyrin‐associated periodic syndrome with inflammatory bowel disease: a case study
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8114987/
https://www.ncbi.nlm.nih.gov/pubmed/34013066
http://dx.doi.org/10.1002/jgh3.12523
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