The most prevalent autoinflammatory illness is familial Mediterranean fever (FMF), which is characterized by recurring fever and serositis episodes. In this study, researchers wanted to offer our 20-year FMF experience, explain a phenotype-genotype link, and compare the features and outcomes of pediatric FMF patients over the previous two decades. This medical record review research comprised 714 pediatric FMF patients identified using Tel Hashomer diagnostic criteria and followed up within our department between January 2009 and January 2019. Demographic and clinical features were compared between patients with M694V homozygosity and other genotypes, and whether they were diagnosed before or after January 2010. To compare categorical and continuous variables between these groups, 2, Student t, and Mann-Whitney U tests were employed. Abdominal discomfort, fever, and arthralgia were the most frequently reported symptoms. The average ages at the beginning of symptoms and diagnosis were 5.16 3.73 and 7.71 3.87 years, respectively. In 111 cases, M694V homo zygozygosity was found. Patients identified before January 2010 were significantly more likely to have a fever, chest discomfort, and proteinuria. Despite the fact that the M694V homozygosity rate was comparable, individuals identified in the previous decade had a lower mean illness severity score.

With this study, they hypothesize that, while genotype and diagnostic delay were identical, individuals diagnosed within the previous decade have a lower illness severity.