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Clinical versus genetic diagnosis of familial Mediterranean fever.
- Source :
-
QJM : monthly journal of the Association of Physicians [QJM] 2000 Apr; Vol. 93 (4), pp. 223-9. - Publication Year :
- 2000
-
Abstract
- The diagnosis of familial Mediterranean fever (FMF) has until recently been based on clinical signs alone. Discovery of the MEFV gene has enabled a molecular approach to diagnosis, which is already well established for diagnosing typical clinical forms of FMF. We evaluated the utility of this molecular approach in a large series of patients with various clinical presentations and ethnic origins. We looked for mutations in the MEFV gene in 303 unselected consecutive patients with a variable (from high to low) clinical suspicion of FMF. Two mutations were found in 133 patients (44%). In 22 patients (7%), the clinical diagnosis of FMF was unlikely according to the Tel Hashomer clinical criteria. Our results suggest that the spectrum of FMF-associated signs is broader than previously believed. Wider indications for genotyping should lead to more frequent diagnosis of FMF.
- Subjects :
- Adolescent
Adult
Age of Onset
Child
Child, Preschool
Diagnosis, Differential
Familial Mediterranean Fever ethnology
Familial Mediterranean Fever genetics
Genotype
Humans
Infant
Middle Aged
Mutation genetics
Pedigree
Predictive Value of Tests
Prospective Studies
Sensitivity and Specificity
Familial Mediterranean Fever diagnosis
Subjects
Details
- Language :
- English
- ISSN :
- 1460-2725
- Volume :
- 93
- Issue :
- 4
- Database :
- MEDLINE
- Journal :
- QJM : monthly journal of the Association of Physicians
- Publication Type :
- Academic Journal
- Accession number :
- 10787450
- Full Text :
- https://doi.org/10.1093/qjmed/93.4.223