Genotype-phenotype assessment of common genotypes among patients with familial Mediterranean fever

J Rheumatol. 2000 Jul;27(7):1703-7.

Abstract

Objective: To study genotype-phenotype correlation for the 4 most common genotypes found among patients with familial Mediterranean fever (FMF).

Methods: Thirty patients with the M694V/M694V genotype, 32 with M694V/V726A genotype, 25 with M694V/E 148Q genotype, and 21 with V726A/V726A genotype were assessed for various clinical manifestations of FMF, and overall disease severity.

Results: Patients with the M694V/M694V genotype were found to have an earlier age of onset, higher frequency of joint involvement, higher frequency of erysipelas-like erythema, and required higher doses of colchicine to control the disease compared to the other 3 genotypes.

Conclusion: The M694V/M694V genotype is associated with more severe disease compared to other common genotypes in patients with FMF.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Age of Onset
  • Colchicine / administration & dosage
  • Disease Progression
  • Familial Mediterranean Fever / genetics*
  • Familial Mediterranean Fever / physiopathology
  • Female
  • Genotype
  • Humans
  • Male
  • Phenotype
  • Sex Factors

Substances

  • Colchicine