Progressive bouts of acute abdomen: pet the peritoneum.
The recent discovery of the mutated gene responsible for Familial Mediterranean Fever (FMF) is supposed to facilitate its diagnosis which up till now is a clinical one because there are no specific laboratory tests. The sensitivity of genetic testing is limited because these tests search only for known mutations. In this case report we describe a patient with periodic abdominal pain in whom the diagnosis of FMF was wrongly discarded because of lack of a durable effect of colchicine and negative genetic testing. Diffuse peritoneal inflammation was nicely demonstrated by a FDG-PET (fluoro-deoxy-glucose positron-emission tomography) performed during a typical crisis. We discuss the possible diagnostic pitfalls and conclude that a crisis-PET might upgrade the level of diagnostic certainty in equivocal cases.
Laleman
W
W
Departementen Algemeen Inwendige Geneeskunde, Universitair Ziekenhuis Gasthuisberg, Katholieke Universiteit Leuven, Leuven, België.
Vanderschueren
S
S
Mortelmans
L
L
Knockaert
D C
DC
D000006:Abdomen, Acute / Q000000981:diagnostic imaging / Q000209:etiology*; D000208:Acute Disease; D000328:Adult; D003937:Diagnosis, Differential; D010505:Familial Mediterranean Fever / Q000150:complications / Q000175:diagnosis* / Q000000981:diagnostic imaging; D005334:Fever / Q000209:etiology*; D019788:Fluorodeoxyglucose F18; D006801:Humans; D008297:Male; D019275:Radiopharmaceuticals; D014055:Tomography, Emission-Computed / Q000379:methods; D017211:Treatment Failure
D019275:Radiopharmaceuticals; D019788:Fluorodeoxyglucose F18