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Concise report
Familial Mediterranean fever associated pyrin mutations in Greece
  1. K Konstantopoulos1,
  2. A Kanta1,
  3. C Deltas4,
  4. V Atamian4,
  5. D Mavrogianni1,
  6. A G Tzioufas2,
  7. I Kollainis1,
  8. K Ritis3,
  9. H M Moutsopoulos2
  1. 1Department of Medicine I, Athens University Medical School, Athens, Greece
  2. 2Department of Pathophysiology, Athens University Medical School, Athens, Greece
  3. 3Department of Medicine, Democritus University of Thrace Medical School, Alexandropolis, Greece
  4. 4Cyprus Institute of Neurology and Genetics/FMF Clinic, Nicosia, Cyprus
  1. Correspondence to:
    Dr K Konstantopoulos, University of Athens School of Medicine, Department of Medicine I, Athens-11527, Greece;
    kkonstan{at}med.uoa.gr

Abstract

Objective: To search for pyrin mutations associated with familial Mediterranean fever (FMF) in Greece.

Patients and methods: 62 patients fulfilling the Tel Hashomer diagnostic criteria for definite (33) or probable (29) FMF diagnosis were studied. Eight point mutations of pyrin gene were tested by standard methods. Of the 62 patients tested, 48 were Greek, four were Jewish, seven were Armenian, and three were Arab.

Results: 42 patients were found to be homozygotes for pyrin mutations; 11 patients were found to carry only one of the tested mutations; in nine patients no mutations were detected.

Conclusion: Molecular detection of pyrin gene mutations seems useful in confirming suspected cases, and in detecting asymptomatic cases, of Mediterranean fever in Greece. It may also be used as a screening tool within affected families.

  • familial Mediterranean fever
  • Greece
  • mutations
  • pyrin
  • BD, Behçet’s disease
  • FMF, familial Mediterranean fever
  • PCR, polymerase chain reaction

https://doi.org/10.1136/ard.62.5.479

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