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Abstract Background Familial mediterranean fever (FMF) is a recessively inherited disease characterized by recurrent crises of fever, abdominal, articular and/or thoracic pain. The most severe complication is the development of renal amyloidosis. Over 35 mutations have been discovered so far in the gene responsible for the disease, <it>MEFV</it>. This article aims at determining a correlation between the <it>MEFV </it>genotype and the occurence of amyloidosis in FMF patients, in addition to the study of the modifying effects of the <it>SAA1 </it>(type 1 serum amyloid A protein) and <it>MICA </it>(Major Histocompatibility Complex (MHC) class-I-chain-related gene A) genes on this severe complication. Methods Fourteen <it>MEFV </it>mutations were screened and the <it>SAA1 </it>and <it>MICA </it>polymorphisms tested in 30 FMF patients with amyloidosis and 40 FMF patients without amyloidosis. Results The M694V and V726A allelic frequencies were, respectively, significantly higher and lower in the group with amyloidosis, compared to the control FMF group. The beta and gamma <it>SAA1 </it>alleles were more frequently encountered in the group without amyloidosis, whereas the alpha allele was significantly more observed in FMF patients with amyloidosis (p < 0.025). All the <it>MICA </it>alleles were encountered in both patients' groups, but none of them was significantly associated with amyloidosis. Conclusions The results suggest a protective effect of the <it>SAA1 </it>beta and gamma alleles on the development of amyloidosis and show the absence of a <it>MICA </it>modifying effect on amyloidosis development. Testing these polymorphisms on a larger sample will lead to more definite conclusions.</p

Amyloidosis in familial Mediterranean fever patients: correlation with MEFV genotype and SAA1 and MICA polymorphisms effects