AB0902 Genetic Characterization of Hereditary Periodic Fever Syndromes: A Retrospective Cohort of 25 Patients

BackgroundThis is a descriptive study of the epidemiological, clinical and genetic characteristics of a cohort of adult patients of a health area of 975,000 inhabitants in the south of Spain, diagnosed with hereditary periodic fever syndrome features. We contrast the mutations found in the genetic study of these with previously published data.ObjectivesA retrospective analysis of medical records of patients was performed. Sex, age, ethnicity, family history, clinical manifestations, time of evolution, genetic testing, final diagnosis, treatment and therapeutic response: the following information was collected. For the diagnosis of FMF clinical criteria such Hashomer (TH) and Livneh (ACR) was choosen, besides the usual genetic study.MethodsA total of 25 patients, 13 women and 12 men, of whom 21 had altered marenostrin gene (MEFV) (11 women and 10 men) and 4 TRAPS (2 women and 2 men) were studied.Regarding the FMF; 8 patients had mutations associated with familial Mediterranean fever (6 women and 2 men); while 13 patients (8 males, 5 females) showed mutations in MEFV protein polymorphisms considered by high high frequency in healthy population.The mean age at diagnosis was 30 years and 8 patients (38%) debuted with less than 20 years. All patients met clinical criteria.A total of 25 patients, 13 women and 12 men, of whom 21 had altered marenostrin gene (MEFV) (11 women and 10 men) and 4 TRAPS (2 women and 2 men) were studied.Regarding the FMF; 8 patients had mutations associated with familial Mediterranean fever (6 women and 2 men); while 13 patients (8 males, 5 females) showed mutations in MEFV protein polymorphisms considered by high high frequency in healthy population.Two of the patients are ethnic predisposing (an Armenian Jew and a citizen of the Middle East). Genetic testing was performed in all patients. Exons 1 to 10 of MEVF gene (marenostrin) were sequenced. Total 15 patients (71%) of patients had received sometime in the course of the disease treatment with colchicine, with good response in most cases.In the case of TRAPS, 4 patients (2 men and 2 women) were diagnosed by clinic. The genetic study was performed in all patients. Exons 2, 3 and 4, encoding the extracellular domains of TNF receptor I, being the pR92Q mutation in exon 4 in 3 patients, and pP46L homozygous mutation in exon 3 in the fourth patient were sequenced, who turn pR202Q had homozygous mutation in the gene MEVF.ResultsIn 8 patients (38%) recurrent mutations (M694V, E148Q and I591