P01-008 – FMF genotype-phenotype correlations in Germany

Results Among the 243 patients, we detected a total of 433 pyrin mutations and 22 different sequence variants, including one new mutation (p.Gly488Asp). The four most frequent alterations were p.Met694Val (55%, n=238), p.Met680lle (12%, n=52), p.Val726Ala (10%, n=44) and p.Glu148Gln (8%, n=34). Ethnic origin could be determined in 224 cases; the prevailing ancestry was Turkish (83%, n=185), 8% (n=18) were Lebanese. P.Met694Val in homozygous form (n=74; 30.5%) was correlated with a more severe disease activity, based on the score by Mor, as well as with a higher mean CRP (74 mg/l, n=60, 31 mg/l, n=59) compared to patients without this mutation (p=0.01 and p<0.01, respectively). The score suggested by Pras did not yield a significant genotype-phenotype correlation; indeed, the two scoring systems were inconsistent with each other ( <0.07). Although a typical distribution of mutations in different ethnic populations was obvious, this trend was not statistically significant, probably due to the divergent number of cases.