PW01-034 – Clinical-genetic investigation of FMF in Armenia
نویسندگان
چکیده
Results Heterozygote carriers associated with abortive and mild FMF features is 18,72%, and 1.29% of patients with clinical features of FMF are without mutations. In some FMF patients “mild” MEFV mutations are associated with inflammatory attacks (P369S: 0.49%; E148Q: 5.09%; A744S: 0.74%). Genotypes E148Q/A744S and E148Q/P369S are found rarely. We have revealed the complex FMF cases with following concurrent morbidity: epilepsy (M694V/M694V; V726A/M680I); Sjogren syndrome (M694V/M694V); bronchial asthma (M694V/V726A, V726A/M680I, M680I); b-thalassemia (M694V/M694V); hyperthyroidism (M694V/M680I); Tourette syndrome (M694V/M694V); Ulcerative colitis (M694V/M694V); renal amyloidosis and multiple sclerosis (M680I/M680I); ankylosing spondilitislike syndrome in about 20% of FMF patients (predominantly M694V/M694V), etc. We have shown that particular mutations have significant correlation with renal amyloidosis (RA). In frames of International Meta-FMF project we compared our data with the FMF morbidity among the other populations. We confirmed that M694V mutation is a high risk factor of RA in patients in Armenia, Israel, Lebanon, but not associated with RA in Turkey. M694V homozygous genotype of MEFV in FMF patients with RA is significantly higher than in patients without RA. The risk of male patients to develop RA is four times higher than that of female patients. SAA (Serum Amyloid A) a/a homozygous genotype is also associated with a seven-fold increased risk of developing RA, compared to other SAA1 genotypes. The presence of only one SAA1 a/a allele does not suggest an increased susceptibility to RA. In our cohort of FMF patients the adequate colchicine-therapy may delay RA progression. In a few cases, the effect of colchicine remains controversial. M694V homozygotes present a more severe phenotype and show a limited response to colchicine at the nephrotic stage of RA. In contrast, FMF patients with other genotypes still have a good chance to escape the nephrotic syndrome and to maintain renal function.
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