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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...
Autores principales: | , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
The Japanese Society of Internal Medicine
2018
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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. |
format | Online Article Text |
id | pubmed-6207823 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2018 |
publisher | The Japanese Society of Internal Medicine |
record_format | MEDLINE/PubMed |
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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