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