MEFV mutation analysis in patients suffering from amyloidosis of familial Mediterranean fever

Familial Mediterranean fever (FMF) is a major cause of AA amyloidosis. Rece ntly, the gene (MEFV) causing this disease was cloned and 16 disease associ ated mutations have been described. We have analyzed 178 FMF;patients, 30 o f whom also suffered from amyloidosis, for 4 mutations in MEFV. Mutations w ere identified in 29 of the FMF amyloidosis patients. 27 FMF amyloidosis pa tients were homozygous for M694V. One patient was found to be homozygous fo r both V726A and E148Q in another patient E148Q and V726A were found on one allele, while V726A was found on the second allele. Amyloidosis was far mo re common among patients homozygous for M694V compared to patients with oth er mutations (P<0.0001). In 3 patients homozygous for M694V, amyloidosis wa s the sole manifestation of the disease.