The recent discovery of the mutated gene responsible for Familial Mediterra
nean Fever (FMF) is supposed to facilitate its diagnosis which up till now
is a clinical one because there are no specific laboratory tests. The sensi
tivity of genetic testing is limited because these tests search only for kn
own mutations.
In this case report we describe a patient with periodic abdominal pain in w
hom the diagnosis of FMF was wrongly discarded because of lack of a durable
effect of colchicine and negative genetic testing. Diffuse peritoneal infl
ammation was nicely demonstrated by a FDG-PET (fluoro-deoxy-glucose positro
n-emission tomography) performed during a typical crisis. We discuss the po
ssible diagnostic pitfalls and conclude that a crisis-PET might upgrade the
level of diagnostic certainty in equivocal cases.