title: Disease severity in children and adolescents with familial Mediterranean fever: a comparative study to explore environmental effects on a monogenic disease.
abstract: BACKGROUND
  Worldwide, familial Mediterranean fever (FMF) is the most common autoinflammatory disease. It has been suggested that environmental factors affect the phenotype as some patients do not develop the complication of secondary amyloidosis.
  
  
  OBJECTIVE
  To analyse whether disease severity in Turkish children with FMF, living in Turkey and Germany is different.
  
  
  METHODS
  A total of 55 Turkish children living in Turkey were compared with 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 C-reactive protein and erythrocyte sedimentation rate 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 with 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.
authors.affiliation: Department of Paediatrics, Hacettepe University, Faculty of Medicine, 06100 Ankara, Turkey. sezaozen@hacettepe.edu.tr
authors.forename: S
authors.initials: S
authors.lastname: Ozen
authors.forename: N
authors.initials: N
authors.lastname: Aktay
authors.forename: E
authors.initials: E
authors.lastname: Lainka
authors.forename: A
authors.initials: A
authors.lastname: Duzova
authors.forename: A
authors.initials: A
authors.lastname: Bakkaloglu
authors.forename: T
authors.initials: T
authors.lastname: Kallinich
mesh_terms: D001799:Blood Sedimentation; D002097:C-Reactive Protein / Q000378:metabolism; D002648:Child; D002675:Child, Preschool; D003598:Cytoskeletal Proteins / Q000235:genetics; D004777:Environment; D010505:Familial Mediterranean Fever / Q000097:blood / Q000208:ethnology / Q000209:etiology* / Q000235:genetics; D005260:Female; D005858:Germany; D006801:Humans; D007223:Infant; D008297:Male; D010865:Pilot Projects; D000071198:Pyrin; D012720:Severity of Illness Index; D014421:Turkey / Q000208:ethnology
chemical_list: D003598:Cytoskeletal Proteins; C000604192:MEFV protein, human; D000071198:Pyrin; D002097:C-Reactive Protein