Cargando…
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...
Autores principales: | , |
---|---|
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 |
_version_ | 1783691154868404224 |
---|---|
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. |
format | Online Article Text |
id | pubmed-8114987 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2021 |
publisher | Wiley Publishing Asia Pty Ltd |
record_format | MEDLINE/PubMed |
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 |
work_keys_str_mv | AT raymondkarenn cryopyrinassociatedperiodicsyndromewithinflammatoryboweldiseaseacasestudy AT martinjonathaned cryopyrinassociatedperiodicsyndromewithinflammatoryboweldiseaseacasestudy |