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Progressive bouts of acute abdomen: pet the peritoneum
W Laleman1, S Vanderschueren, L Mortelmans
1Departementen Algemeen Inwendige Geneeskunde, Universitair Ziekenhuis Gasthuisberg, Katholieke Universiteit Leuven, Leuven, België.
Abstract:
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.
Insights
Familial Mediterranean Fever (FMF) diagnosis can be challenging due to limited genetic testing. A fluoro-deoxy-glucose positron-emission tomography (FDG-PET) scan during a crisis can aid in diagnosing FMF in equivocal cases.
Area of Science:
- Genetics and Molecular Biology
- Medical Imaging
- Rheumatology and Immunology
Background:
- Familial Mediterranean Fever (FMF) diagnosis is primarily clinical, lacking specific laboratory tests.
- Genetic testing for FMF is limited by its focus on known mutations.
- Accurate diagnosis is crucial for effective management and preventing complications.
Observation:
- A case report details a patient with periodic abdominal pain initially misdiagnosed.
- The patient had negative genetic testing and lacked a durable response to colchicine.
- Diffuse peritoneal inflammation was visualized using fluoro-deoxy-glucose positron-emission tomography (FDG-PET) during an FMF crisis.
Findings:
- FDG-PET imaging during an active FMF crisis can reveal characteristic inflammatory patterns.
- Genetic testing alone may not be sufficient for diagnosing FMF, especially in atypical cases.
- Clinical presentation combined with advanced imaging can overcome diagnostic limitations.
Implications:
- A crisis-FDG-PET may serve as a valuable tool to increase diagnostic certainty in suspected FMF cases.
- This imaging modality could help avoid misdiagnosis and delayed treatment for FMF patients.
- Further research into the role of FDG-PET in FMF diagnosis is warranted.