Performance of the new ‘Eurofever/PRINTO classification criteria’ in FMF patients

Sağ, Erdal; Demirel, Dilara; Atalay, Erdal; Akça, Ümmüşen Kaya; Bilginer, Yelda; Özen, Seza

doi:10.1016/j.semarthrit.2019.08.004

Cited by 20 publications

(18 citation statements)

References 12 publications

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“…The main difference between the new criteria and the earlier one is the inclusion of patient genotype. Sag et al ( 41 ) reported that this new set of criteria is more sensitive (96%) and less specific (73.1%) than Tel Hashomer and Yalcinkaya-Ozen criteria.…”

Section: Familial Mediterranean Fevermentioning

confidence: 97%

Autoinflammatory Diseases in Childhood

Yıldız¹,

Haşlak²,

Adroviç³

et al. 2020

Balkan Med J

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Autoinflammatory diseases are characterized by recurrent fevers and clinical findings of impaired natural immunity and can involve various organ systems. The concept of autoinflammatory disease emerged after the definition of familial Mediterranean fever and tumor necrosis factor receptor-associated periodic syndrome. This new disease group was considered to differ from the standard concept of autoimmune diseases, which is relatively better known in terms of basic features, such as defects in innate immunity and the absence of antibodies. A better understanding has been achieved regarding the genetic and pathogenetic mechanisms of this relatively new disease group over the past 20 years since they were first diagnosed, which have led to some changes in the concept of autoinflammatory diseases. The recent definition classifies autoinflammatory disease to be a wide range of diseases with different clinical features, mainly accompanied by changes in innate immune and rarely in humoral immunity. The spectrum of autoinflammatory diseases is rapidly expanding owing to recent developments in molecular sciences and genetics. This review article discusses the clinical features, classification criteria, treatment options, and long-term prognosis of periodic fever, aphthous stomatitis, pharyngitis, adenitis syndrome, and other common autoinflammatory diseases in the light of current literature.

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Section: Familial Mediterranean Fevermentioning

confidence: 97%

Autoinflammatory Diseases in Childhood

Yıldız¹,

Haşlak²,

Adroviç³

et al. 2020

Balkan Med J

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“…The patients were diagnosed using the Tel-Hashomer criteria. 13 The findings were recorded on the basis of major criteria (recurrent febrile episodes with serositis, amyloidosis of the AA type, favorable response to colchicine) and minor criteria (recurrent febrile episodes, erysipelas-like erythema, FMF in a first-degree relative). MEFV gene screening of the patients was carried out in the second, third, fifth and tenth exon by two different methods: Reverse hybridization strip assay (Vienna Lab, FMF StripAssay, GMBH, Austria) and pyrosequencing (PyroMark, Qiagen, Germany).…”

Section: Methodsmentioning

confidence: 99%

Prevalence of MEFV gene mutations in a large cohort of patients with suspected familial Mediterranean fever in Central Anatolia

et al. 2019

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BACKGROUND: Familial Mediterranean fever (FMF), an autosomal recessive, autoinflammatory disease that is common in Arabs, Jews, Armenians and Turks, is caused by mutations in the MEFV gene, which encodes a protein called pyrin. The disease is characterised by recurrent fever, peritonitis, pleuritis, abdominal pain and arthralgia. OBJECTIVE: Determine the distributions of MEFV mutations and their relationship with clinical manifestations. DESIGN: Retrospective, descriptive. SETTING: Turkish community. SUBJECTS AND METHODS: The study included patients with complaints related to FMF who were admitted to the research hospital of Cumhuriyet University between 2005 and 2017. FMF was diagnosed by physical examination using the Tel-Hashomer criteria. MEFV mutations were detected by reverse hybridization strip assay and pyrosequencing. MAIN OUTCOME MEASURE: The prevalence of specific MEFV gene mutations in a large cohort of Middle Anatolia. SAMPLE SIZE: 10 033 patients admitted, 1223 with confirmed mutations. RESULTS: Of 1684 patients diagnosed by Tel-Hashomer criteria, mutation screening confirmed that 1223 patients (72.6%) had FMF. Male/ female ratio of the FMF patients was 1.3:1. One or more FMF mutations were found in 4497 patients (44.8%). 3262 had heterozygous or carrier mutations, 821 had compound heterozygous mutation, 381 had homozygous mutations, and 21 had triple mutations. Sixty-six percent had a family history of the disease and 13.7% of the patients had parental consanguinity. Main symptoms found in the patients were abdominal pain (85.2%), fever (84%), chest pain (30.2%), arthralgia (28.6%), rash or erysipelas-like erythema (8.2%). The most common mutation in this population was M694V (39%) of 5753 alleles. CONCLUSION: M694V was the most frequent mutation in our population (Middle Anatolia, Turkey) and cause severe forms of the disease. Patients with E148Q, V726A and R761H mutations may have milder FMF symptoms. There was a high rate of carriers in our study group. LIMITATIONS: Amyloidosis, an important complication of the disease, needs to be analyzed. CONFLICT OF INTEREST: None.

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“…The performance of three clinical FMF diagnostic criteria and the new Eurofever/PRINTO classification criteria was recently tested in a real-life setting on paediatric patients. All of the criteria sets revealed similar performance in diagnosing or classifying patients with biallelic pathogenic variants, but the Eurofever/PRINTO classification criteria had a somewhat lower sensitivity for patients with monoallelic variants (heterozygotes) [78,79].…”

Section: Diagnosismentioning

confidence: 96%

Familial Mediterranean fever, from pathogenesis to treatment: a contemporary review

Tufan¹,

Lachmann²

2020

Turk J Med Sci

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Familial Mediterranean fever (FMF) (OMIM #249100) is the most common hereditary autoinflammatory disease in the world. FMF is caused by gain of function mutations of MEFV gene which encodes an immune regulatory protein, pyrin. Over the last few years, we have witnessed several new developments in the pathogenesis, genetic testing, diagnosis, comorbidities, disease related damage and treatment approaches to FMF. Elucidation of some of the pathogenic mechanisms has led to the discovery of pathways involved in inflammatory, metabolic, cardiovascular and degenerative diseases. The use of next generation sequencing in FMF has revealed many new gene variants whose clinical significance may be clarified by developing functional assays and biomarkers. Clinically, although FMF is considered an episodic disease characterized by brief attacks, recent systematic studies have defined several associated chronic inflammatory conditions. Colchicine is the mainstay of FMF treatment, and interleukin (IL)-1 antagonists are the treatment of choice in refractory or intolerant cases. Experience of IL-1 antagonists, anakinra and canakinumab, is now available in thousands of colchicine resistant or intolerant FMF patients. In this contemporary review, we surveyed current FMF knowledge in the light of these recent advances.

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Performance of the new ‘Eurofever/PRINTO classification criteria’ in FMF patients

Cited by 20 publications

References 12 publications

Autoinflammatory Diseases in Childhood

Autoinflammatory Diseases in Childhood

Prevalence of MEFV gene mutations in a large cohort of patients with suspected familial Mediterranean fever in Central Anatolia

Familial Mediterranean fever, from pathogenesis to treatment: a contemporary review

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