P01-018 – An earliest diagnosis of FMF
نویسندگان
چکیده
Introduction Familial Mediterranean fever (FMF) is an autosomal recessive disease, mainly affecting Jews, Armenians, Turks, Arabs and other groups living around Mediterranean basin. Major symptoms of disease are recurrent periodic fever accompanied by serositis. The disease is usually diagnosed at ages less than 20 years. Onset of the disease at older age can rarely occur. Symptoms related to FMF are noted when children become more verbal, usually after 2 years of age. Mutation analysis supports diagnostic evaluation.
منابع مشابه
P01-046 – Membrane aspects of Hemostasis disorders at ATYPIC
Introduction The increasing trend of atypical form of FMF among the Armenian population is one of the actual problems in the Armenian medicine. Hence, it induced and promoted the necessity of studying molecular mechanisms for correction of disturbed metabolic processes and for elaboration of new methods at pathogenic therapy of FMF. The specific features of the clinical symptoms in atypical for...
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Methods We observed 2300 patients with FMF (1408 boys and 892 girls; mean age: 8.86±0.29) in the National Pediatric Centre for FMF. Diagnosis of FMF was based on Tel-Hashomer criteria and MEFV genetic analysis. The epilepsy was diagnosed based on clinical manifestations (>2 unprovoked epileptic seizures),neurological history, exam, EEG and MRI. The statistical analysis was performed using Epi-I...
متن کاملP01-041 – Patient management and rare FMF symptoms
Introduction Analysis of various symptoms from 20000 FMF patients indicates that several issues, including the clinical manifestation in a variety of combinations and the genotype penetrance, make FMF diagnosis and management challenging. Severe phenotypes with development of serositis, ELE, splenomegaly, and vasculitis are associated with high penetrance mutations of exon 10, mainly M694V allele.
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Methods In this observational comparative study, 47 sequential genetic negative FMF patients and 78 sequential genetic positive (for at least one allele) FMF control patients were compared using a comprehensive questionnaire completed at the time of their routine clinic visit, using direct questioning and patients’ files. The definition of FMF was based on our clinical tool, widely accepted for...
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Introduction Familial Mediterranean fever (FMF) is an autosomal recessive disease that is prevalent among eastern Mediterranean populations, mainly non-Ashkenazi Jews, Armenians, Turks, and Arabs. Arthritis seen in FMF patients is generally acute monoarthritis which predominantly affecting the lower limbs, and it occurs during attack periods and also is a common clinical manifestation in patien...
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