Familial Mediterranean fever in two Italian brothers.
Familial Mediterranean fever (FMF) is an autosomal recessive disease of unknown etiology, characterized by recurrent self limited episodes of fever and polyserositis. Some patients develop generalized amyloidosis, which can be fatal. Colchicine therapy modifies the natural history of the disease by decreasing the attack frequency and preventing amyloid deposition. The disease is common among Sephardic Jews, Arabs, Armenians and has also been sporadically found in other ethnic groups of Mediterranean origin. We report two cases of FMF in brothers living in Abruzzo, Italy. They were born from consanguineous parents and complained typical symptoms since childhood. The boy suffered from one febrile attack every week; he presented three episodes of acute scrotum at age 8 and 9. The elder sister showed a spontaneous partial relief during adolescence. Juvenile rheumatoid arthritis was suspected and Aspirin was used for many years without any clinical improvement. Treatment with colchicine 1 mg/day was established at age 13 and 17 respectively, and a sudden reduction of frequency of attacks was obtained. A gingival biopsy did not show amyloid. The three elder brothers are, at present, in good health. Our experience point out the diagnostic difficulties of FMF especially in a country where the disease is uncommon.
Breda
L
L
Department of Pediatrics, University of Chieti, Italy.
Magrí
M
M
Morgese
G
G
Chiarelli
F
F
D000293:Adolescent; D002648:Child; D003078:Colchicine / Q000627:therapeutic use*; D010505:Familial Mediterranean Fever / Q000188:drug therapy* / Q000235:genetics; D005260:Female; D006801:Humans; D007558:Italy; D008297:Male; D010375:Pedigree
D003078:Colchicine