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Familial Mediterranean Fever Mutations in a Patient with Periodic Episodes of Systemic Pain Deriving from Cancer Bone Metastases

Familial Mediterranean fever (FMF), the most common autoinflammatory disorder, is characterized by recurrent febrile attacks and polyserositis. FMF is caused by mutations in MEFV, which encodes pyrin. In this report, we present an atypical FMF case with E148Q/L110P mutations in MEFV. The patient exp...

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Autores principales: Yamashita, Kouhei, Mizugishi, Kiyomi, Takaori-Kondo, Akifumi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Japanese Society of Internal Medicine 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6207823/
https://www.ncbi.nlm.nih.gov/pubmed/29780113
http://dx.doi.org/10.2169/internalmedicine.0431-17
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author Yamashita, Kouhei
Mizugishi, Kiyomi
Takaori-Kondo, Akifumi
author_facet Yamashita, Kouhei
Mizugishi, Kiyomi
Takaori-Kondo, Akifumi
author_sort Yamashita, Kouhei
collection PubMed
description Familial Mediterranean fever (FMF), the most common autoinflammatory disorder, is characterized by recurrent febrile attacks and polyserositis. FMF is caused by mutations in MEFV, which encodes pyrin. In this report, we present an atypical FMF case with E148Q/L110P mutations in MEFV. The patient experienced periodic episodes of systemic pain originating from prostate cancer bone metastases. The pain attacks were prevented by continuous prophylactic therapy with colchicine. In this case, the presence of atypical FMF may have modulated the clinical manifestations of cancer bone metastases. To our knowledge, this is the first report to demonstrate the potential modulatory effect of MEFV mutations on cancer manifestations.
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spelling pubmed-62078232018-10-31 Familial Mediterranean Fever Mutations in a Patient with Periodic Episodes of Systemic Pain Deriving from Cancer Bone Metastases Yamashita, Kouhei Mizugishi, Kiyomi Takaori-Kondo, Akifumi Intern Med Case Report Familial Mediterranean fever (FMF), the most common autoinflammatory disorder, is characterized by recurrent febrile attacks and polyserositis. FMF is caused by mutations in MEFV, which encodes pyrin. In this report, we present an atypical FMF case with E148Q/L110P mutations in MEFV. The patient experienced periodic episodes of systemic pain originating from prostate cancer bone metastases. The pain attacks were prevented by continuous prophylactic therapy with colchicine. In this case, the presence of atypical FMF may have modulated the clinical manifestations of cancer bone metastases. To our knowledge, this is the first report to demonstrate the potential modulatory effect of MEFV mutations on cancer manifestations. The Japanese Society of Internal Medicine 2018-05-18 2018-10-01 /pmc/articles/PMC6207823/ /pubmed/29780113 http://dx.doi.org/10.2169/internalmedicine.0431-17 Text en Copyright © 2018 by The Japanese Society of Internal Medicine https://creativecommons.org/licenses/by-nc-nd/4.0/ The Internal Medicine is an Open Access article distributed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License. To view the details of this license, please visit (https://creativecommons.org/licenses/by-nc-nd/4.0/).
spellingShingle Case Report
Yamashita, Kouhei
Mizugishi, Kiyomi
Takaori-Kondo, Akifumi
Familial Mediterranean Fever Mutations in a Patient with Periodic Episodes of Systemic Pain Deriving from Cancer Bone Metastases
title Familial Mediterranean Fever Mutations in a Patient with Periodic Episodes of Systemic Pain Deriving from Cancer Bone Metastases
title_full Familial Mediterranean Fever Mutations in a Patient with Periodic Episodes of Systemic Pain Deriving from Cancer Bone Metastases
title_fullStr Familial Mediterranean Fever Mutations in a Patient with Periodic Episodes of Systemic Pain Deriving from Cancer Bone Metastases
title_full_unstemmed Familial Mediterranean Fever Mutations in a Patient with Periodic Episodes of Systemic Pain Deriving from Cancer Bone Metastases
title_short Familial Mediterranean Fever Mutations in a Patient with Periodic Episodes of Systemic Pain Deriving from Cancer Bone Metastases
title_sort familial mediterranean fever mutations in a patient with periodic episodes of systemic pain deriving from cancer bone metastases
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6207823/
https://www.ncbi.nlm.nih.gov/pubmed/29780113
http://dx.doi.org/10.2169/internalmedicine.0431-17
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