Vnitr Lek 2014, 60(1):25-29

Familiar Mediterranean fever in Czech Republic

Anna Šedivá1,*, Viktor Maňásek2, Andrea Gřegořová3, Pavlína Plevová3, Nataša Toplak4, Maruša Debeljak4
1 Ústav imunologie 2. LF UK a FN Motol, Praha, přednostka prof. MUDr. Jiřina Bartůňková, DrSc.
2 Komplexní onkologické centrum, Nemocnice Nový Jičín a.s., vedoucí doc. MUDr. Renata Soumarová, Ph.D., MBA
3 oddělení lékařské genetiky FN Ostrava, primářka MUDr. Eva Šilhánová
4 Laboratorij za genetiko, Služba za alergologijo, revmatologijo in klinično imunologijo, Pediatrična klinika, Univerzitetni klinični center Ljubljana, Slovenia, prof. dr. Tadej Avčin, dr. med

Familiar Mediterranean fever (FMF) is a well defined autosomal recessive disease occurring mostly in Mediterranean regions. Here we present the experience from one center from Czech Republic, where we follow 4 families with patients with genetically proven FMF. Three out of these 4 families cluster to one limited region in Moravia, in the heart of Europe, without any linkage to Mediterranean origin. Furthermore, majority of these patients are heterozygots presenting with well defined typical clinical symptoms. Potential pseudodominant inheritance and/or epigenetic and environmental factors might influence clinical presentation of the disease.

Keywords: clinical presentation; epigenetic environmental influence on clinical presentation; epigenetic influence on clinical presentation; heterozygous patients; familiar mediterranean fever

Received: June 21, 2013; Accepted: August 1, 2013; Published: January 1, 2014  Show citation

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Šedivá A, Maňásek V, Gřegořová A, Plevová P, Toplak N, Debeljak M. Familiar Mediterranean fever in Czech Republic. Vnitr Lek. 2014;60(1):25-29.
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    References

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