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Disease severity in children and adolescents with Familial Mediterranean Fever: A comparative study to explore environmental effects on a monogenic disease
  1. Seza Özen (sezaozen{at}
  1. Hacettepe University Medical Faculty, Ankara, Turkey
    1. Nuray Aktay (nurayaktay{at}
    1. Hacettepe University Medical Faculty, Ankara, Turkey
      1. Elke Lainka (elkelainka{at}
      1. Center for Pediatric, Rheumatology, University of Duisburg-Essen, Germany, Germany
        1. Ali Duzova
        1. Hacettepe University Medical Faculty, Ankara, Turkey
          1. Aysin Bakkaloglu (aysin{at}
          1. Hacettepe University Medical Faculty, Ankara, Turkey
            1. Tilmann Kallinich (tilmann.kallinich{at}
            1. Pediatric Pneumology and Immunology, Charité University Hospital Berlin, Germany, Germany


              Background: Familial Mediterranean Fever (FMF) is worldwide the most common autoinflammatory disease. It has been suggested that environmental factors affect the phenotype since some patients do not develop the complication of secondary amyloidosis.

              Objective: To analyze whether disease-severity in Turkish children with FMF, living in Turkey and Germany are different.

              Patients and Methods: A total of 55 Turkish children living in Turkey were compared to 45 Turkish children born and raised in Germany. Mean age among the group from Turkey and Germany was 42.2 and 44.29 months, respectively. M694V was the leading mutation in both groups. The severity scores were compared with two scoring systems, modified according to published paediatric data for dosage.

              Results: There was no significant difference between the mean CRP and ESR levels of the two groups. According to the modified Sheba center score, 78.2 % of patients from the group living in Turkey had a severe course compared to 34.1% from the group living in Germany. The modified score of Pras et al also showed more severe disease in the patients from Turkey. The difference between the two groups for both scoring systems were significant (both p<0.05).

              Conclusions: We believe the modified scores that we introduce can be widely used for children. Our results suggest that the environment affects the phenotype of a monogenic disease of the innate inflammatory pathway.

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