Familial Mediterranean fever in Germany: clinical presentation and amyloidosis risk

Scand J Rheumatol. 2013;42(1):52-8. doi: 10.3109/03009742.2012.714796. Epub 2012 Nov 8.

Abstract

Objective: To characterize patients with familial Mediterranean fever (FMF) with and without AA amyloidosis living in Germany.

Method: Clinical and genetic data from 64 FMF patients were analysed for amyloidosis risk factors.

Results: Fifty-five patients (85%) were of Turkish or Armenian origin. Thirty-one patients (48%) developed FMF symptoms before the age of 16 years. Sixteen patients (26%) became symptomatic after age 20. Symptoms reported were peritonitis (95%), fever (78%), pleuritis (59%), arthralgia (60%), arthritis (32%), erysipelas-like erythema (23%), and vasculitis (8%). FMF diagnosis was delayed for a median of 8.0 years. Genetic analysis confirmed M694V as the most prevalent Mediterranean fever (MEFV) gene mutation in 46 out of 59 patients (78%). M694V homozygosity was associated with an earlier FMF onset (median age 5.5 years, p = 0.0001) and a higher prevalence of peritonitis (p = 0.007) and pleuritis (p = 0.0007) compared to patients without an M694V mutation. AA amyloidosis was detected in 16 patients (25%) at a median age of 36.5 years and tended to be associated with a higher age at disease onset (p = 0.062) and a higher FMF activity score (p = 0.093). AA amyloidosis was significantly associated with a higher age at FMF diagnosis (p = 0.0022).

Conclusions: Clinical symptoms of FMF-affected migrants living in Germany resemble those observed in their home country. In particular, patients with an onset of FMF symptoms after age 20 and a later FMF diagnosis have a high risk of AA amyloidosis. Symptomatic patients who originate from countries with a higher FMF prevalence should be screened for FMF and proteinuria.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Age of Onset
  • Aged
  • Amyloidosis / diagnosis
  • Amyloidosis / ethnology*
  • Amyloidosis / genetics*
  • Cytoskeletal Proteins / genetics*
  • Familial Mediterranean Fever / diagnosis
  • Familial Mediterranean Fever / ethnology*
  • Familial Mediterranean Fever / genetics*
  • Germany / epidemiology
  • Humans
  • Middle Aged
  • Peritonitis / diagnosis
  • Peritonitis / ethnology
  • Peritonitis / genetics
  • Point Mutation / genetics
  • Prevalence
  • Pyrin
  • Retrospective Studies
  • Risk Factors
  • Transients and Migrants / statistics & numerical data*
  • Young Adult

Substances

  • Cytoskeletal Proteins
  • MEFV protein, human
  • Pyrin