Disease severity and genotype-phenotype correlation in adult patients with familial Mediterranean fever

Objectives To assess the relationships of disease severity with genotype and phenotype in adult familial Mediterranean fever patients. Methods Two-hundred seventy-five patients included in the study were divided into four groups according to their mutations: Group 1, M694V homozygous; Group 2, M694V-other; Group 3, other-other; and Group 4, no meaningful gene variants. Disease severity was evaluated using the Pras disease severity score. The association between Pras scores and other possible predictors was assessed by the multiple linear regression analysis. Results In this study, 12.4% of all patients were in Group 1, 55.3% were in Group 2, 26.5% were in Group 3, and 5.8% were in Group 4. Pras scores were higher in Group 1 than in Groups 2, 3, and 4 (post hoc pairwise comparisons; P = .001, P < .001, and P = .001, respectively). Age at disease onset and age at diagnosis were found moderately and strongly correlated with Pras scores. Patients with moderate and severe disease were intensely involved in Group 1. Conclusions Higher Pras scores, earlier age of symptoms and diagnosis, more frequent arthritis and erysipelas-like erythema, and higher colchicine dose are closely associated with M694V homozygous familial Mediterranean fever patients. These patients also have mostly moderate and severe disease severity.

Automated summary

The objective of this study was to assess the relationships between genotype, phenotype, and disease severity in adult familial Mediterranean fever patients. The patients were divided into four groups based on their mutations. Disease severity was evaluated using the Pras disease severity score. The results showed that patients with M694V homozygous mutation had higher Pras scores, and there was a moderate to strong correlation between age at onset/diagnosis and Pras scores. Therefore, M694V homozygous familial Mediterranean fever patients are more likely to have higher disease severity.