Coexisting Diseases in Patients with Familial Mediterranean Fever

Farhad Salehzadeh,1 Afsaneh Enteshari Moghaddam2 1Pediatric Department, Bouali Children`s Hospital, Ardabil University of Medical Sciences (ARUMS), Ardabil, Iran; 2Internal Medicine Department, Imam Khomeini Hospital, Ardabil University of Medical Sciences (ARUMS), Ardabil, IranCorrespondence: Afsan...

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Autores principales:	Salehzadeh F, Enteshari Moghaddam A
Formato:	article
Lenguaje:	EN
Publicado:	Dove Medical Press 2020
Materias:	familial mediterranean fever mefv mutation fmf-coexisting disease Diseases of the musculoskeletal system RC925-935
Acceso en línea:	https://doaj.org/article/b4e7b523bba44d6d990c73527c904c00
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spelling	oai:doaj.org-article:b4e7b523bba44d6d990c73527c904c002021-12-02T08:22:13ZCoexisting Diseases in Patients with Familial Mediterranean Fever1179-156Xhttps://doaj.org/article/b4e7b523bba44d6d990c73527c904c002020-05-01T00:00:00Zhttps://www.dovepress.com/coexisting-diseases-in-patients-with-familial-mediterranean-fever-peer-reviewed-article-OARRRhttps://doaj.org/toc/1179-156XFarhad Salehzadeh,1 Afsaneh Enteshari Moghaddam2 1Pediatric Department, Bouali Children`s Hospital, Ardabil University of Medical Sciences (ARUMS), Ardabil, Iran; 2Internal Medicine Department, Imam Khomeini Hospital, Ardabil University of Medical Sciences (ARUMS), Ardabil, IranCorrespondence: Afsaneh Enteshari MoghaddamInternal Medicine Department, Imam Khomeini Hospital, Ardabil University of Medical Sciences (ARUMS), No. 105 Shahrak Azadi, Azerbaijan Streets, Ardabil 56157, IranTel +989141511607Fax +984533721199Email afsanehenteshary@gmail.comBackground and Aims: Familial Mediterranean fever (FMF) is a prototype of autoinflammatory disease and mainly associated with MEFV gene mutations. This single-center study as an experience represents FMF-coexisting disease in the FMF registration database.Methods: Four hundred patients who had FMF based on clinical criteria (Tel-Hashomer) and/or MEFV mutations enrolled the study. Twelve most common MEFV mutations (P369S, F479L, M680I (G/C), M680I (G/A), I692del, M694V, M694I, K695R, V726A, A744S, R761H, E148Q) were analyzed if needed by the reverse hybridization assay. Any co-existed disease had been confirmed by a related subspecialist. All data were analyzed by a simple analytical method.Results: Fifty-seven (14%) patients had associated disease, 32 patients were male and 24 patients were under 10 years old. They included 92 MEFV variant alleles and only in five patients there were not any mutations. The most common variant alleles were M694V (36%), E148Q (22%), V726A (17%), M680I (1%) and M694I (0.07%) respectively. Rheumatologic disorders were the most common coexisting disease, then followed by gastrointestinal and neurological disorders. Some rare diseases such as TTP, growth hormone deficiency, multiple sclerosis, idiopathic ascites, Leiden factor V deficiency and Felty syndrome have been detected. Homozygote mutations of (M694V-M694V) were associated with idiopathic ascites, orchitis and pericarditis.Conclusion: Coexisting disease in patients with FMF is presented with positive MEFV gene mutations particularly with these five common variant alleles: M694V, E148Q, V726A, M680I, and M694I. The commonly associated diseases are rheumatologic, gastrointestinal and CNS disorders.Keywords: familial mediterranean fever, MEFV mutation, FMF-coexisting diseaseSalehzadeh FEnteshari Moghaddam ADove Medical Pressarticlefamilial mediterranean fevermefv mutationfmf-coexisting diseaseDiseases of the musculoskeletal systemRC925-935ENOpen Access Rheumatology: Research and Reviews, Vol Volume 12, Pp 65-71 (2020)
institution	DOAJ
collection	DOAJ
language	EN
topic	familial mediterranean fever mefv mutation fmf-coexisting disease Diseases of the musculoskeletal system RC925-935
spellingShingle	familial mediterranean fever mefv mutation fmf-coexisting disease Diseases of the musculoskeletal system RC925-935 Salehzadeh F Enteshari Moghaddam A Coexisting Diseases in Patients with Familial Mediterranean Fever
description	Farhad Salehzadeh,1 Afsaneh Enteshari Moghaddam2 1Pediatric Department, Bouali Children`s Hospital, Ardabil University of Medical Sciences (ARUMS), Ardabil, Iran; 2Internal Medicine Department, Imam Khomeini Hospital, Ardabil University of Medical Sciences (ARUMS), Ardabil, IranCorrespondence: Afsaneh Enteshari MoghaddamInternal Medicine Department, Imam Khomeini Hospital, Ardabil University of Medical Sciences (ARUMS), No. 105 Shahrak Azadi, Azerbaijan Streets, Ardabil 56157, IranTel +989141511607Fax +984533721199Email afsanehenteshary@gmail.comBackground and Aims: Familial Mediterranean fever (FMF) is a prototype of autoinflammatory disease and mainly associated with MEFV gene mutations. This single-center study as an experience represents FMF-coexisting disease in the FMF registration database.Methods: Four hundred patients who had FMF based on clinical criteria (Tel-Hashomer) and/or MEFV mutations enrolled the study. Twelve most common MEFV mutations (P369S, F479L, M680I (G/C), M680I (G/A), I692del, M694V, M694I, K695R, V726A, A744S, R761H, E148Q) were analyzed if needed by the reverse hybridization assay. Any co-existed disease had been confirmed by a related subspecialist. All data were analyzed by a simple analytical method.Results: Fifty-seven (14%) patients had associated disease, 32 patients were male and 24 patients were under 10 years old. They included 92 MEFV variant alleles and only in five patients there were not any mutations. The most common variant alleles were M694V (36%), E148Q (22%), V726A (17%), M680I (1%) and M694I (0.07%) respectively. Rheumatologic disorders were the most common coexisting disease, then followed by gastrointestinal and neurological disorders. Some rare diseases such as TTP, growth hormone deficiency, multiple sclerosis, idiopathic ascites, Leiden factor V deficiency and Felty syndrome have been detected. Homozygote mutations of (M694V-M694V) were associated with idiopathic ascites, orchitis and pericarditis.Conclusion: Coexisting disease in patients with FMF is presented with positive MEFV gene mutations particularly with these five common variant alleles: M694V, E148Q, V726A, M680I, and M694I. The commonly associated diseases are rheumatologic, gastrointestinal and CNS disorders.Keywords: familial mediterranean fever, MEFV mutation, FMF-coexisting disease
format	article
author	Salehzadeh F Enteshari Moghaddam A
author_facet	Salehzadeh F Enteshari Moghaddam A
author_sort	Salehzadeh F
title	Coexisting Diseases in Patients with Familial Mediterranean Fever
title_short	Coexisting Diseases in Patients with Familial Mediterranean Fever
title_full	Coexisting Diseases in Patients with Familial Mediterranean Fever
title_fullStr	Coexisting Diseases in Patients with Familial Mediterranean Fever
title_full_unstemmed	Coexisting Diseases in Patients with Familial Mediterranean Fever
title_sort	coexisting diseases in patients with familial mediterranean fever
publisher	Dove Medical Press
publishDate	2020
url	https://doaj.org/article/b4e7b523bba44d6d990c73527c904c00
work_keys_str_mv	AT salehzadehf coexistingdiseasesinpatientswithfamilialmediterraneanfever AT entesharimoghaddama coexistingdiseasesinpatientswithfamilialmediterraneanfever
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Coexisting Diseases in Patients with Familial Mediterranean Fever

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