Clinical characteristics of autoinflammatory diseases: a retrospective analysis in a single centre over a 5-year period / 中国实用内科杂志

ABSTRACT

OBJECTIVE: This study is aimed to evaluate the features in patients with autoinflammatory diseases and to assess the applicability of the international clinical diagnostic criteria for autoinflammatory diseases in these patients. METHODS: We retrospectively reviewed clinical data patients with autoinflammatory diseases in Peking University First Hospital within 5 year.RESULTS: Totally 50 patients were included. Eighteen patients experienced their first attack before 18 years of age, and 32 patients were with adult onset. The median age at onset was 25.5 years(range 1-74); 35(70%) cases experienced recurrent episodes of fever;15(30%) cases had continuous fever. Inflammatory markers were elevated in most patients during fever attack, and reduced in period with no symptoms. All of patients had one or more sequence variants(SVs). MEFV gene mutations were the most common and all SVs were heterozygous.The most frequent genotype was E148 Q(23 patients 50%).Only 5 MEFV SVs cases(10.8%)were up to the familial Mediterranean fever(FMF) Tel Hashomer clinical criteria. Totlly 7 patients were diagnosed with single-gene hereditary autoinflammatory disease. CONCLUSION: Most patients in the study didn't show typical clinical features or typical gene mutations. The international diagnostic criteria of autoinflammatory diseases is not applicable to the patients in this study.