Familial mediterranean fever: assessment of clinical manifestations, pregnancy, genetic mutational analyses, and disease severity in a national cohort

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dc.contributor.authorBodur, Hatice
dc.contributor.authorYurdakul, Fatma Gul
dc.contributor.authorCay, Hasan Fatih
dc.contributor.authorUcar, Ulku
dc.contributor.authorKeskin, Yasar
dc.contributor.authorSargin, Betul
dc.contributor.authorGurer, Gulcan
dc.date.accessioned2024-02-23T13:43:43Z
dc.date.available2024-02-23T13:43:43Z
dc.date.issued2020
dc.departmentNEÜen_US
dc.description.abstractThe aims of this study were to investigate the main clinical and laboratory features, including pregnancy and genetic analysis, of Turkish Familial Mediterranean Fever (FMF) patients and to analyze the relationships between genotypic features, age of disease onset, clinical findings, and disease severity. A study was planned within a national network of 22 different centers. Demographics, clinical and laboratory findings, attack characteristics, drugs, pregnancy and birth history, disease severity, and gene mutation analyses were evaluated. Disease severity, assessed using a scoring system developed by Pras et al., was evaluated in relation to gene mutations and age of disease onset. A total of 979 patients (643 females and 336 males; mean age: 35.92 +/- 11.97 years) with FMF were included in the study. Of a total of 585 pregnancies, 7% of them resulted in preterm birth and 18.1% resulted in abortions. During pregnancy, there was no FMF attack in 61.4% of patients. Of the MEditerranean FeVer (MEFV) mutations, 150 (24.3%) cases were homozygous, 292 (47.3%) cases were heterozygous, and 175 (28.4%) were compound heterozygous. Patients with homozygous gene mutations had more severe disease activity, earlier age of disease onset, higher rates of joint and skin involvement, sacroiliitis, and amyloidosis. Patients with compound heterozygous genotype displayed severe disease activity in close resemblance to patients with homozygous mutation. In addition, patients with compound heterozygous mutations had higher rates of protracted febrile myalgia and elevated fibrinogen levels. In 63.9% of compound heterozygous patients, age of onset was < 20 years, with greater disease severity, and high rates of attack frequency and colchicine resistance. Our results suggest that indicators for disease severity include early onset of disease and homozygous gene mutations. Furthermore, patients with compound heterozygous mutations displayed significant presentations of severe disease activity.en_US
dc.identifier.doi10.1007/s00296-019-04443-0
dc.identifier.endpage40en_US
dc.identifier.issn0172-8172
dc.identifier.issn1437-160X
dc.identifier.issue1en_US
dc.identifier.pmid31522233en_US
dc.identifier.scopus2-s2.0-85073964265en_US
dc.identifier.scopusqualityQ2en_US
dc.identifier.startpage29en_US
dc.identifier.urihttps://doi.org/10.1007/s00296-019-04443-0
dc.identifier.urihttps://hdl.handle.net/20.500.12452/10883
dc.identifier.volume40en_US
dc.identifier.wosWOS:000509304200005en_US
dc.identifier.wosqualityQ4en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherSpringer Heidelbergen_US
dc.relation.ispartofRheumatology Internationalen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectAmyloidosisen_US
dc.subjectMutationen_US
dc.subjectColchicineen_US
dc.subjectPregnancyen_US
dc.titleFamilial mediterranean fever: assessment of clinical manifestations, pregnancy, genetic mutational analyses, and disease severity in a national cohorten_US
dc.typeArticleen_US

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