Familiar Mediterranean fever in Czech Republic
Authors:
Anna Šedivá 1; Viktor Maňásek 2; Andrea Gřegořová 3; Pavlína Plevová 3; Nataša Toplak 4; Maruša Debeljak 4
Authors‘ workplace:
Ústav imunologie 2. LF UK a FN Motol, Praha, přednostka prof. MUDr. Jiřina Bartůňková, DrSc.
1; Komplexní onkologické centrum, Nemocnice Nový Jičín a. s., vedoucí doc. MUDr. Renata Soumarová, Ph. D., MBA
2; oddělení lékařské genetiky FN Ostrava, primářka MUDr. Eva Šilhánová
3; Laboratorij za genetiko, Služba za alergologijo, revmatologijo in klinično imunologijo, Pediatrična klinika, Univerzitetni klinični center Ljubljana, Slovenia, prof. dr. Tadej Avčin, dr. med
4
Published in:
Vnitř Lék 2014; 60(1): 25-29
Category:
Original Contributions
Overview
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.
Key words:
clinical presentation – epigenetic environmental influence on clinical presentation – epigenetic influence on clinical presentation – heterozygous patients – familiar mediterranean fever
Sources
1. Ozen S. Familial mediterranean fever: revisiting an ancient disease. Eur J Pediatr 2003; 162(7–8): 449–454.
2. Booty MG et al. Familial Mediterranean fever with a single MEFV mutation: where is the second hit? Arthritis Rheum 2009; 60(6): 1851–1861.
3. Hentgen V et al. Familial mediterranean Fever in heterozygotes: are we able to accurately diagnose the disease in very young children? Arthritis Rheum 2013; 65(6): 1654–1662.
4. Ozen S et al. Results from a multicentre international registry of familial Mediterranean fever: impact of environment on the expression of a monogenic disease in children. Ann Rheum Dis 2013 Mar 5. [Epub ahead of print]
5. Dallos T, Ilenčíková D, Kovács L Familiárna stredomorská horúčka – klinický obraz, diagnóza a liečba. Vnitř Lék 2014; 60(1): 30–37.
Labels
Diabetology Endocrinology Internal medicineArticle was published in
Internal Medicine
2014 Issue 1
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