0000000000800107

AUTHOR

Marta Bustaffa

showing 2 related works from this author

The impact of the Eurofever criteria and the new Infevers MEFV classification in real life: results from a large international FMF cohort

2022

INTRODUCTION: New Eurofever/PRINTO classification criteria (EPCC) for Familial Mediterranean Fever (FMF) and other recurrent fevers have been recently developed, together with the classification of the pathogenicity of MEFV variants. OBJECTIVES: To evaluate the impact in real life of both the EPCC and INSAID pathogenicity classification of MEFV variants in the large international Eurofever FMF cohort. METHODS: Baseline demographic, genetic and clinical data of FMF patients included in the Eurofever registry were evaluated. The EPCC and the 2018 INSAID classification for MEFV variants were applied in all eligible FMF patients. RESULTS: Since November 2009, clinical information was available …

Male*Genetic analysis*Autoinflammatory diseasesPyrinFamilial Mediterranean fever*Classification criteriaCohort StudiesAnesthesiology and Pain MedicineRheumatologySettore MED/38 - PEDIATRIA GENERALE E SPECIALISTICAMutation*Familial mediterranean feverHumansFemale*RegistryRegistriesAutoinflammatory diseases Classification criteria Familial mediterranean fever Genetic analysis Recurrent fevers Registry Cohort Studies Colchicine Female Humans Male Mutation Pyrin Registries Familial Mediterranean FeverColchicine*Recurrent fevers
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Persistence of disease flares is associated with an inadequate colchicine dose in familial Mediterranean fever: A national multicenter longitudinal s…

2021

Familial Mediterranean fever (FMF) is characterized by self limited episodes of fever and polyserositis.1 MEFV gene en codes for a protein named Pyrin, which plays a pivotal role in the activation and secretion of IL-1.2 Daily colchicine is highly effective in preventing attacks in this disorder in a dose-related fashion.3 Many definitions of colchicine resistance are available in the literature. The European League Against Rheumatism (EULAR) guidelines defined resistance as one or more attacks per month in compliant patients who had been receiving the maxi mally tolerated dose for at least 6 months.4 A similar definition was confirmed by a recent consensus among experts.5 In the present na…

Longitudinal studybusiness.industryFamilial Mediterranean feverInterleukinDiseaseFamilial Mediterranea fevermedicine.diseaseSymptom Flare UpColchicine; Humans; Interleukin 1 Receptor Antagonist Protein; Longitudinal Studies; Symptom Flare Up; Familial Mediterranean FeverPersistence (computer science)Familial Mediterranean Feverchemistry.chemical_compoundInterleukin 1 Receptor Antagonist ProteinSettore MED/38 - Pediatria Generale E SpecialisticachemistryColchicine Humans Interleukin 1 Receptor Antagonist Protein Longitudinal Studies Symptom Flare Up Familial Mediterranean FeverImmunologyCOLCHICINE RESISTANCEImmunology and AllergyMedicineColchicineHumansLongitudinal StudiesbusinessColchicine
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