Review Article
From the Mediterranean to the Sea of Japan: The Transcontinental Odyssey of Autoinflammatory Diseases
Table 1
The clinical features of familial Mediterranean fever.
| Gene | MEFV (16p13.3) | Inheritance | Autosomal recessive (an autosomal dominant pattern has been reported) | Protein encoded | Pyrin | OMIM | 249100 (134610 for the autosomal dominant variant) | Onset | Childhood or adolescence | Fever | Over 39°C Preceded by chills in 20% of cases Lasting few hours-3 days | Major clinical signs | Recurrent peritonitis, pleurisy, and pericarditis and/or synovitis in large joints | Rash features | Erysipelas-like erythema In the lower extremities | Gonadal involvement | Orchitis | Rare signs | Aseptic meningitis, cryptogenic cirrhosis, and Th1-polarized vasculitides | Major complication | Amyloidosis of AA type (the risk differs according to ethnic group) | Major “in vivo” diagnostic test | Favorable response to daily colchicine administration | Treatment | Colchicine, interleukin-1 antagonists |
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