Disease severity and genotype-phenotype correlation in adult patients with familial Mediterranean fever.
Mod Rheumatol
; 34(1): 214-219, 2023 Dec 22.
Article
em En
| MEDLINE
| ID: mdl-36688581
ABSTRACT
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.Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Febre Familiar do Mediterrâneo
Tipo de estudo:
Prognostic_studies
Limite:
Adult
/
Humans
Idioma:
En
Ano de publicação:
2023
Tipo de documento:
Article