Bloody Diarrhea as a Presentation Manifestation of Familial Mediterranean Fever in a Patient with Compound Heterozygote Mutations of the MEFV Gene

Familial Mediterranean fever (FMF) is a hereditary autoinflammatory disease characterized by episodic fever and inflammatory polyserositis, which could lead to a variety of manifestations, including recurrent abdominal pain. Herein, a 12-year-old boy who has suffered from fever and bloody diarrhea s...

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Autores principales: Fallahi, Gholam Hossein, Rezaei, Nima, Sadjadei, Nooshin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Korean Society of Gastroenterology; the Korean Society of Gastrointestinal Endoscopy; the Korean Association for the Study of the Liver; the Korean Society of Neurogastroenterology and Motility; Korean Association for the Study of Intestinal Diseases; Korean College of Helicobacter and Upper Gastrointestinal Research; Korean Pancreatobiliary Association; Korean Society of Gastrointestinal Cancer 2013
Materias:
Brief Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3724042/
https://www.ncbi.nlm.nih.gov/pubmed/23898394
http://dx.doi.org/10.5009/gnl.2013.7.4.497
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author Fallahi, Gholam Hossein
Rezaei, Nima
Sadjadei, Nooshin
author_facet Fallahi, Gholam Hossein
Rezaei, Nima
Sadjadei, Nooshin
author_sort Fallahi, Gholam Hossein
collection PubMed
description Familial Mediterranean fever (FMF) is a hereditary autoinflammatory disease characterized by episodic fever and inflammatory polyserositis, which could lead to a variety of manifestations, including recurrent abdominal pain. Herein, a 12-year-old boy who has suffered from fever and bloody diarrhea since early childhood is described. All structural and underlying disorders leading to bleeding were excluded. Genetic studies indicated compound heterozygote mutations of M680I/R761H in the MEFV gene, which confirmed the diagnosis of FMF. Therefore, treatment with colchicine was started, which led to symptom relief. As gastrointestinal manifestations appear to be the main features of FMF, bloody diarrhea could also be considered an initial symptom of FMF.
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spelling pubmed-37240422013-07-29 Bloody Diarrhea as a Presentation Manifestation of Familial Mediterranean Fever in a Patient with Compound Heterozygote Mutations of the MEFV Gene Fallahi, Gholam Hossein Rezaei, Nima Sadjadei, Nooshin Gut Liver Brief Communication Familial Mediterranean fever (FMF) is a hereditary autoinflammatory disease characterized by episodic fever and inflammatory polyserositis, which could lead to a variety of manifestations, including recurrent abdominal pain. Herein, a 12-year-old boy who has suffered from fever and bloody diarrhea since early childhood is described. All structural and underlying disorders leading to bleeding were excluded. Genetic studies indicated compound heterozygote mutations of M680I/R761H in the MEFV gene, which confirmed the diagnosis of FMF. Therefore, treatment with colchicine was started, which led to symptom relief. As gastrointestinal manifestations appear to be the main features of FMF, bloody diarrhea could also be considered an initial symptom of FMF. The Korean Society of Gastroenterology; the Korean Society of Gastrointestinal Endoscopy; the Korean Association for the Study of the Liver; the Korean Society of Neurogastroenterology and Motility; Korean Association for the Study of Intestinal Diseases; Korean College of Helicobacter and Upper Gastrointestinal Research; Korean Pancreatobiliary Association; Korean Society of Gastrointestinal Cancer 2013-07 2013-07-11 /pmc/articles/PMC3724042/ /pubmed/23898394 http://dx.doi.org/10.5009/gnl.2013.7.4.497 Text en Copyright © 2013 by the Korean Society of Gastroenterology, the Korean Society of Gastrointestinal Endoscopy, the Korean Society of Neurogastroenterology and Motility, Korean College of Helicobacter and Upper Gastrointestinal Research, Korean Association for the Study of Intestinal Diseases, the Korean Association for the Study of the Liver, Korean Pancreatobiliary Association, and Korean Society of Gastrointestinal Cancer http://creativecommons.org/licenses/by-nc/3.0/ This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/3.0/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Brief Communication
Fallahi, Gholam Hossein
Rezaei, Nima
Sadjadei, Nooshin
Bloody Diarrhea as a Presentation Manifestation of Familial Mediterranean Fever in a Patient with Compound Heterozygote Mutations of the MEFV Gene
title Bloody Diarrhea as a Presentation Manifestation of Familial Mediterranean Fever in a Patient with Compound Heterozygote Mutations of the MEFV Gene
title_full Bloody Diarrhea as a Presentation Manifestation of Familial Mediterranean Fever in a Patient with Compound Heterozygote Mutations of the MEFV Gene
title_fullStr Bloody Diarrhea as a Presentation Manifestation of Familial Mediterranean Fever in a Patient with Compound Heterozygote Mutations of the MEFV Gene
title_full_unstemmed Bloody Diarrhea as a Presentation Manifestation of Familial Mediterranean Fever in a Patient with Compound Heterozygote Mutations of the MEFV Gene
title_short Bloody Diarrhea as a Presentation Manifestation of Familial Mediterranean Fever in a Patient with Compound Heterozygote Mutations of the MEFV Gene
title_sort bloody diarrhea as a presentation manifestation of familial mediterranean fever in a patient with compound heterozygote mutations of the mefv gene
topic Brief Communication
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3724042/
https://www.ncbi.nlm.nih.gov/pubmed/23898394
http://dx.doi.org/10.5009/gnl.2013.7.4.497
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