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Clinical and Genetic Analysis of 22 Japanese Patients with Familial Mediterranean Fever: An Examination of MEFV and 10 Other Genes Related to Autoinflammatory Syndromes

OBJECTIVE: Familial Mediterranean Fever (FMF) is the most frequent autoinflammatory syndrome, and its frequency is reported to be increasing in Japan. We studied the clinical features and genetic background of patients with FMF in our hospital. METHODS: We analyzed the clinical features and genomic...

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Autores principales: Fujimoto, Kyoko, Hidaka, Yukiko, Koga, Takuma, Kaieda, Shinjiro, Yamasaki, Satoshi, Nakashima, Munetoshi, Hoshino, Tomoaki, Ida, Hiroaki
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Japanese Society of Internal Medicine 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7332638/
https://www.ncbi.nlm.nih.gov/pubmed/32475906
http://dx.doi.org/10.2169/internalmedicine.3778-19
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author Fujimoto, Kyoko
Hidaka, Yukiko
Koga, Takuma
Kaieda, Shinjiro
Yamasaki, Satoshi
Nakashima, Munetoshi
Hoshino, Tomoaki
Ida, Hiroaki
author_facet Fujimoto, Kyoko
Hidaka, Yukiko
Koga, Takuma
Kaieda, Shinjiro
Yamasaki, Satoshi
Nakashima, Munetoshi
Hoshino, Tomoaki
Ida, Hiroaki
author_sort Fujimoto, Kyoko
collection PubMed
description OBJECTIVE: Familial Mediterranean Fever (FMF) is the most frequent autoinflammatory syndrome, and its frequency is reported to be increasing in Japan. We studied the clinical features and genetic background of patients with FMF in our hospital. METHODS: We analyzed the clinical features and genomic variants of MEFV, as well as 10 genes related to other autoinflammatory syndromes, in 22 Japanese patients with FMF. A genetic analysis was performed with a next generation sequencer. RESULTS: The patients were classified into the typical FMF (n=16) and atypical FMF (n=6) groups. Fever, abdominal pain, thoracic pain, and arthralgia were observed in 22, 12, 8, and 10 patients, respectively. MEFV variants were found in 19 patients (86.4%). Two cases had no MEFV variants and one case only had a variant in the 3′ untranslated region (3′-UTR) of MEFV. Genomic variants were found in genes other than MEFV in 7 patients (31.8%); however, none met the diagnostic criteria for autoinflammatory syndromes with disease-related gene variants, and all were classified as typical FMF. Moreover, none of the 6 patients with atypical FMF had any variants among the 10 disease-related genes. All cases in which the onset occurred before 20 years of age were classified as typical FMF. CONCLUSION: The clinical features of FMF recorded in our hospital coincided with those from the Japanese national epidemiological survey of FMF in Japan. More than 30% of the patients with FMF had non-MEFV genes, related to other autoinflammatory syndromes, thereby suggesting that variants of these genes may act as a disease-modifier in FMF.
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spelling pubmed-73326382020-08-03 Clinical and Genetic Analysis of 22 Japanese Patients with Familial Mediterranean Fever: An Examination of MEFV and 10 Other Genes Related to Autoinflammatory Syndromes Fujimoto, Kyoko Hidaka, Yukiko Koga, Takuma Kaieda, Shinjiro Yamasaki, Satoshi Nakashima, Munetoshi Hoshino, Tomoaki Ida, Hiroaki Intern Med Original Article OBJECTIVE: Familial Mediterranean Fever (FMF) is the most frequent autoinflammatory syndrome, and its frequency is reported to be increasing in Japan. We studied the clinical features and genetic background of patients with FMF in our hospital. METHODS: We analyzed the clinical features and genomic variants of MEFV, as well as 10 genes related to other autoinflammatory syndromes, in 22 Japanese patients with FMF. A genetic analysis was performed with a next generation sequencer. RESULTS: The patients were classified into the typical FMF (n=16) and atypical FMF (n=6) groups. Fever, abdominal pain, thoracic pain, and arthralgia were observed in 22, 12, 8, and 10 patients, respectively. MEFV variants were found in 19 patients (86.4%). Two cases had no MEFV variants and one case only had a variant in the 3′ untranslated region (3′-UTR) of MEFV. Genomic variants were found in genes other than MEFV in 7 patients (31.8%); however, none met the diagnostic criteria for autoinflammatory syndromes with disease-related gene variants, and all were classified as typical FMF. Moreover, none of the 6 patients with atypical FMF had any variants among the 10 disease-related genes. All cases in which the onset occurred before 20 years of age were classified as typical FMF. CONCLUSION: The clinical features of FMF recorded in our hospital coincided with those from the Japanese national epidemiological survey of FMF in Japan. More than 30% of the patients with FMF had non-MEFV genes, related to other autoinflammatory syndromes, thereby suggesting that variants of these genes may act as a disease-modifier in FMF. The Japanese Society of Internal Medicine 2020-06-01 2020-06-01 /pmc/articles/PMC7332638/ /pubmed/32475906 http://dx.doi.org/10.2169/internalmedicine.3778-19 Text en Copyright © 2020 by The Japanese Society of Internal Medicine https://creativecommons.org/licenses/by-nc-nd/4.0/ The Internal Medicine is an Open Access journal 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 Original Article
Fujimoto, Kyoko
Hidaka, Yukiko
Koga, Takuma
Kaieda, Shinjiro
Yamasaki, Satoshi
Nakashima, Munetoshi
Hoshino, Tomoaki
Ida, Hiroaki
Clinical and Genetic Analysis of 22 Japanese Patients with Familial Mediterranean Fever: An Examination of MEFV and 10 Other Genes Related to Autoinflammatory Syndromes
title Clinical and Genetic Analysis of 22 Japanese Patients with Familial Mediterranean Fever: An Examination of MEFV and 10 Other Genes Related to Autoinflammatory Syndromes
title_full Clinical and Genetic Analysis of 22 Japanese Patients with Familial Mediterranean Fever: An Examination of MEFV and 10 Other Genes Related to Autoinflammatory Syndromes
title_fullStr Clinical and Genetic Analysis of 22 Japanese Patients with Familial Mediterranean Fever: An Examination of MEFV and 10 Other Genes Related to Autoinflammatory Syndromes
title_full_unstemmed Clinical and Genetic Analysis of 22 Japanese Patients with Familial Mediterranean Fever: An Examination of MEFV and 10 Other Genes Related to Autoinflammatory Syndromes
title_short Clinical and Genetic Analysis of 22 Japanese Patients with Familial Mediterranean Fever: An Examination of MEFV and 10 Other Genes Related to Autoinflammatory Syndromes
title_sort clinical and genetic analysis of 22 japanese patients with familial mediterranean fever: an examination of mefv and 10 other genes related to autoinflammatory syndromes
topic Original Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7332638/
https://www.ncbi.nlm.nih.gov/pubmed/32475906
http://dx.doi.org/10.2169/internalmedicine.3778-19
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