Phenotype-genotype correlation in 91 patients with familial Mediterranean fever reveals a high frequency of cutaneomucous features

Rheumatology (Oxford). 2000 Nov;39(11):1275-9. doi: 10.1093/rheumatology/39.11.1275.

Abstract

Objectives: To describe the clinical manifestations of familial Mediterranean fever (FMF) in 91 patients from 47 families and provide data from the genetic study. P:atients and methods. We conducted a retrospective chart review of 91 patients (including 83 children aged <15 yr) from 47 families through a questionnaire and a specific database. The genetic analysis included complete screening of known mutations of the MEFV gene on chromosome 16p13.3. A positive diagnosis required at least two mutations, one on each chromosome.

Results: Our panel included 52 females and 39 males, with a mean age of 7.27 yr. Of the 47 families, 31 were non-Ashkenazi Jews, 10 were Armenians and six were from other ethnic groups. Clinical features included fever (100%), peritonitis (86%), pleuritis (56%), arthritis (34%) and myalgias (27%). We observed a high rate of cutaneous manifestations (47%); erythema, oedema and recurrent oral ulcers were the most frequent. Phenotype-genotype correlations showed a significant association of M694V homozygosity with earlier age of onset (P: = 0.044), fever >39 degrees C (P: = 0. 002), pleural crisis (P: = 0.0044), splenomegaly (P: = 0.0005) and arthritis (P: = 0.001). Associations with mucocutaneous features were as follows: erysipelas-like erythema (P: = 0.012), oedema (P: = 0.61, not significant) and oral ulcers (P: = 0.45, not significant).

Conclusion: New phenotype-genotype correlations emerged from our study: homozygosity for the M694V mutation was associated with intensity of fever, splenomegaly and with erysipelas-like erythema. Apart from erysipelas-like erythema, no significant association was found between other cutaneous features and the genotype.

MeSH terms

  • Adolescent
  • Age of Onset
  • Armenia
  • Child
  • Chromosomes, Human, Pair 16*
  • Colitis, Ulcerative / ethnology
  • Crohn Disease / ethnology
  • Erythema / diagnosis*
  • Erythema / ethnology
  • Erythema / genetics*
  • Familial Mediterranean Fever / diagnosis*
  • Familial Mediterranean Fever / ethnology
  • Familial Mediterranean Fever / genetics*
  • Family Health
  • Female
  • Genotype
  • Homozygote
  • Humans
  • Jews
  • Male
  • Mucous Membrane
  • Mutation
  • Phenotype
  • Retrospective Studies
  • Severity of Illness Index
  • Splenomegaly / diagnosis
  • Splenomegaly / genetics
  • Thyroiditis / ethnology