PReS-FINAL-2242: Familial Mediterranean Fever - first experiences in Slovakia

Results 5 patients (1 male, 4 female, 2 related, 2 children and 3 adults) diagnosed with FMF based on the clinical picture and genetic analysis could be identified. Recurrent episodes of fever, abdominal and thoracic pain were present in all patients. Additional symptoms were arthralgia/ arthritis (n = 3), splenomegaly (n = 1), hepatomegaly (n = 1), lymphadenopathy (n = 1) and exanthema (n = 1). In spite of significant diagnostic delay (4,5 30,0 years from onset of clinical symptoms), no patient has developed amyloidosis. Only well-known mutations (M694V, E148Q, V726A, E167D and F479L) were identified. All patients responded well to colchicine therapy (1 partial, 4 complete response) with good tolerance. Interestingly, only one patient originated from a high-risk population (Egypt), all other were of white Slovak native origin. Conclusion FMF due to common MEFV mutations does occur in Slovak low-risk central European population. Due to its low prevalence and resulting lack of clinical expertize diagnosis may be significantly delayed, thus exposing patients to an increased risk of AA amyloidosis. Further undiagnosed cases are to be expected in our population.