Amyloid A amyloidosis in a Japanese patient with familial Mediterranean fever associated with homozygosity for the pyrin variant M694I/M694I.

[familial mediterranean fever]

Familial Mediterranean fever (FMF ) is an autoinflammatory disease common in eastern Mediterranean populations . The most severe complication is the development of secondary amyloid A (AA ) amyloidosis . A 51 -year -old Japanese male who had been suffering from periodic fever since in his twenties was referred to our hospital for proteinuria . Histological findings from renal biopsy revealed the deposition of AA amyloid fibrils , suggesting that renal dysfunction was due to AA amyloidosis . Gene analysis of the patient and his mother showed that both were homozygous for the M 694 I mutation in the MEFV gene . His mother was also a carrier of the SAA 1 .3 allele , which is not only a univariate predictor of survival but also a risk factor for the association of AA amyloidosis with rheumatoid arthritis in Japanese patients , and the SAA 1 -13 T allele in the 13 T /C polymorphism on the 5 '-flanking region of the SAA 1 gene . The patient was also a carrier of the SAA-13 T allele . Colchicine resulted in not only an amelioration of the acute febrile attacks of FMF inflammation , but also an improvement in kidney dysfunction due to AA amyloidosis .