A case of familial Mediterranean fever-associated systemic amyloidosis

Abstract

Familial Mediterranean fever (FMF) is a chronic inflammatory disease, characterized by recurrent fever and polyserositis (pleuritis and/or peritonitis). The most important complication of FMF is amyloidosis, which causes chronic renal failure. Colchicine is the most effective treatment in acute attacks and amyloidosis development. However, the majority of patients with amyloidosis have a relentless progression to end-stage renal disease despite initiation of colchicine treatment. We present the case of a 38-year-old man with FMF-associated chronic renal failure due to systemic amyloidosis. The patient suffered from periodic fever and renal insufficiency, and was admitted to our hospital. Laboratory examination revealed an inflammatory reaction, renal dysfunction (serum creatinine 2. 5 mg/dl), and proteinuria. Renal biopsy revealed segmental mesangial AA amyloid deposits in several glomeruli and the walls of several vessels. Genetic analysis showed that the patient was heterozygous for the MEFV gene (E148Q/M694I). Thus, he was diagnosed with FMF, and colchicine treatment was initiated. He remained almost attack free, with decreasing serum creatinine levels (1. 6 mg/dl) and diminishing urinary protein excretion. In conclusion, renal amyloidosis is the most important long-term complication of FMF, and treatment with colchicine is effective for preventing progression. Therefore, colchicine treatment should be initiated as early as possible after the diagnosis of FMF. (copyright) 2011 Japanese Society of Nephrology.