ArticleRheumatology international2020
Familial mediterranean fever: assessment of clinical manifestations, pregnancy, genetic mutational analyses, and disease severity in a national cohort.
Article in Rheumatology international, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers, 1 of them a synthesis that pooled it.
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15 citing papers in PubMed, 1 synthesis or guideline pooled it, 33 citations in OpenAlex.
- Prevalence of neurological manifestation in familial mediterranean fever patients: systematic review & meta-analysis.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2025Pooled it
- Clinical and genetic characteristics of adult patients with familial Mediterranean fever at a German tertiary referral centre.BMC rheumatology · 2026Article
- Maternal and fetal risks in familial mediterranean fever: focus on adverse pregnancy outcomes.Clinical rheumatology · 2026Article
- Familial Mediterranean fever: perspective on female fertility and disease course in pregnancy from a multicenter nationwide network.Rheumatology international · 2024Article
- Risk for cancer development in familial Mediterranean fever and associated predisposing factors: an ambidirectional cohort study from the international AIDA Network registries.Frontiers in immunology · 2024Article
- R202Q prevalence in clinically diagnosed Familial Mediterranean Fever patients: 9 years of data analysis from 1570 patients living Central Black Sea region, Turkey.Irish journal of medical science · 2023Article
- Clinical features, functional status, and quality of life in patients with late-onset familial Mediterranean fever.Northern clinics of Istanbul · 2023Article
- Investigation of Acceptance of Illness and Religious Coping in Patients with Familial Mediterranean Fever in Turkey.Journal of religion and health · 2022Article
- Spondyloarthritis in familial Mediterranean fever: a cohort study.Rheumatology international · 2022Article
- Clinical impact and disease evolution of SARS-CoV-2 infection in familial Mediterranean fever.Pharmacological research · 2022Article
- The Preferential Use of Anakinra in Various Settings of FMF: A Review Applied to an Updated Treatment-Related Perspective of the Disease.International journal of molecular sciences · 2022Review
- Bibliometric analysis of publication activity in the field of familial Mediterranean fever in 2010-2019: a Scopus-based study.Rheumatology international · 2021Article
- The impact of COVID-19 on familial Mediterranean fever: a nationwide study.Rheumatology international · 2021Article
- The importance of Mediterranean fever gene in familial Mediterranean fever.European journal of rheumatology · 2020Article
- Inflammasome Targeted Therapy in Pregnancy: New Insights From an Analysis of Real-World Data From the FAERS Database and a Systematic Review.Frontiers in pharmacology · 2020Review
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31 authors at 20 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The 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.
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