Familial Mediterranean fever: diagnostic issues and treatment options

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To evaluate diagnostic and treatment issues in patients with familial Mediterranean fever (FMF) and risk factors for AA-amyloidosis.

Material and methods

In a retrospective observational study, we assessed clinical manifestations, markers of inflammation and risk factors for AA-amyloidosis in 241 patients with FMF. In a pilot study, we also evaluated the diagnostic significance of S100A12 as a biomarker for inflammatory activity in two groups of FMF patients.


Most patients with FMF presented with attacks of aseptic peritonitis and/or pleuritis as well as acute exudative arthritis from childhood or adolescence. Despite typical clinical manifestation, the diagnosis of FMF was frequently late (up to 20-30 years after disease onset). AA-amyloidosis that manifested by proteinuria and/or worsening in kidney function was found in 60% of patients. Attacks of acute exudative arthritis were the only clinical parameter associated with a higher risk of AA-amyloidosis, whereas low adherence to colchicine therapy was less significant. Timely diagnosis and treatment of persistent subclinical inflammation are necessary for prevention of AA-amyloidos. Our findings suggest that S100A12 may be a biomarker of subclinical inflammation. Colchicine remains the mainstain of treatment of FMF, whereas interleukin-1 inhibitors, i.e. canakinumab, can be used in patients who are resistant to colchicine.


Late diagnosis suggests a low awareness of FMF among physicians. Timely treatment is essential for prevention of FMF progression and development of AA-amyloidosis.

Key words

Familial Medittaranean fever, autoinflamma- tion, peritonitis, fever, arthritis, C-reactive protein, SAA, S100A12 .