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Familial Mediterranean fever (FMF) is an inherited disease characterized by recurrent inflammatory polyserositis. Although FMF is classically expected only in Middle East populations, it is becoming evident that the disease affects more groups than initially thought. The disease is associated with a number of mutations of the MEFV gene, which codes for a protein named pyrin. The role of E148Q pyrin gene mutation in the development of FMF remains inconclusive. Some authors believe it causes the disease, whereas others favor the concept of a noncausative role. To understand better the role of this mutation, gathering data from different populations may be of value. We studied 60 Greek cases fulfilling the criteria for FMF diagnosis, 30 cases being a definite FMF diagnosis and 30 a probable diagnosis. Twenty-one of the patients, carried mutation E148Q. One was a homozygote (E148Q/E148Q), and 20 carried mutation E148Q in combination with other mutations (compound heterozygotes). In 6 of the 60 cases studied, no mutations were found. Compared with the results for healthy controls, E148Q mutation is significantly frequent. Because different populations may exhibit different patterns of pyrin mutations, association of the E148Q mutation with FMF should be considered in connection with origin data.

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Objective: It is known that clinical similarities between Behcet's disease and Familial Mediterranean Fever have led to the hypothesis of a common pathogenesis. Familial Mediterranean Fever is caused by MEFV gene mutations coding for pyrin. Therefore, we examined whether these pyrin mutations are also associated with Behcet's disease. Methods: Molecular testing for pyrin mutations was performed in 96 unrelated Greek patients with an established diagnosis of Behcet's disease. The results were compared with an analysis for pyrin mutations in 140 unrelated healthy Greek controls. Results: We found no pyrin mutations among the Behcet cases tested; this result is comparable with the control group. Conclusions: Pyrin gene mutations in Greek patients with Behcet's disease are not more common than those in the general population. This finding is not in agreement with the findings in other populations. It is suggested that screening for pyrin mutations not be included in the evaluation of Greeks suspected to have Behcet's disease. Mutaciones en el Gen de la Fiebre Mediterránea en Pacientes Griegos con laEnfermedad de Behçet K Konstantopoulos, E Kanta, V Papadopoulos, P Kaklamanis, M Hatzinikolaou, V Kalotychou, A Kanta, V Kapsimali, G Vaiopoulos RESUMEN Objetivo: Se sabe que las similitudes clínicas entre la enfermedad de Behçet y la fiebre mediterránea familiar han llevado a la hipótesis de una patogénesis común. La fiebre mediterránea familiar es causada por mutaciones en el gen MEFV que codifica la pirina. Por lo tanto, examinamos si estas mutaciones de la pirina se hallan también asociadas con la enfermedad de Behçet. Métodos: La prueba molecular para la detección de las mutaciones de la pirina se realizó en 96 pacientes griegos no relacionados, y diagnosticados con la enfermedad de Behçet. Los resultados se compararon con un análisis de las mutaciones de la pirina en 140 controles formados por individuos griegos saludables. Resultados: No se encontraron mutaciones de pirina entre los casos de Behçet sometidos a prueba. Este resultado es comparable con el grupo control. Conclusiones: Las mutaciones del gen de la pirina en los pacientes griegos con la enfermedad de Behçet no son más comunes que las de la población general. Este hallazgo no concuerda con los hallazgos en otras poblaciones. Se sugiere que el tamizaje para la detección de las mutaciones de pirina no se incluya en la evaluación de pacientes griegos sospechosos de padecer la enfermedad de Behçet. Palabras claves: Enfermedad de Behçet, fiebre mediterránea familiar, Grecia, pirina West Indian Med J 2012; 61 (1): 28 From: First

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