title: Patient management and the association of less common familial Mediterranean fever symptoms with other disorders.
abstract: OBJECTIVE
  In this study, we present clinical data from 16,000 familial Mediterranean fever patients. We also discuss the clinical manifestation of a subset of these patients and their potential symptom associations with other disorders.
  
  
  METHODS
  Familial Mediterranean fever patients were confirmed using Tel-Hashomer criteria and were tested for the 12 most common mutations using the familial Mediterranean fever StripAssay. A total of 100 samples were selected, and their MEFV gene exons and intron junctions were completely sequenced.
  
  
  RESULTS
  We observed that in children severe phenotypes with polyserositis, erysipelas-like erythema, splenomegaly, and vasculitis are associated with high penetrance of exon 10 mutations, particularly M694V. Several forms of arthritis were associated with familial Mediterranean fever, including acute mono/oligoarthritis in the lower extremities, destructive arthritis, ankylosing spondylitis, sacroiliitis, arthritis of the hip joint, and juvenile chronic arthritis. Severe life-threatening complications, such as adhesive intestinal obstruction, renal amyloidosis, and uncommon/rare symptoms were sometimes the only form of familial Mediterranean fever manifestation.
  
  
  CONCLUSIONS
  We suggest performing familial Mediterranean fever genetic testing for patients presenting with rare/uncommon symptoms also common in other disorders, to prevent misdiagnosis or delayed diagnosis. In our experience, the most effective patient management for familial Mediterranean fever was its rapid diagnosis through genetic testing, initiation of colchicine therapy, and promotion of attack prevention through counseling.
authors.affiliation: 1] Department of Medical Genetics, Morava, Glendale, California, USA [2] Department of Molecular Genetics, Center of Medical Genetics and Primary Health Care, Yerevan, Armenia.
authors.forename: Mike M
authors.initials: MM
authors.lastname: Moradian
authors.affiliation: Department of Molecular Genetics, Center of Medical Genetics and Primary Health Care, Yerevan, Armenia.
authors.forename: Tamara
authors.initials: T
authors.lastname: Sarkisian
authors.affiliation: Department of Molecular Genetics, Center of Medical Genetics and Primary Health Care, Yerevan, Armenia.
authors.forename: Gayane
authors.initials: G
authors.lastname: Amaryan
authors.affiliation: Department of Molecular Genetics, Center of Medical Genetics and Primary Health Care, Yerevan, Armenia.
authors.forename: Hasmik
authors.initials: H
authors.lastname: Hayrapetyan
authors.affiliation: Department of Molecular Genetics, Center of Medical Genetics and Primary Health Care, Yerevan, Armenia.
authors.forename: Anna
authors.initials: A
authors.lastname: Yeghiazaryan
authors.affiliation: Department of Medical Genetics, Morava, Glendale, California, USA.
authors.forename: Nairi
authors.initials: N
authors.lastname: Davidian
authors.affiliation: Department of Medical Genetics, Morava, Glendale, California, USA.
authors.forename: Nare
authors.initials: N
authors.lastname: Avanesian
mesh_terms: D001168:Arthritis / Q000175:diagnosis; D002648:Child; D003078:Colchicine / Q000627:therapeutic use*; D003376:Counseling; D003598:Cytoskeletal Proteins / Q000235:genetics; D042241:Early Diagnosis; D010505:Familial Mediterranean Fever / Q000175:diagnosis* / Q000188:drug therapy* / Q000235:genetics; D005260:Female; D056726:Genetic Association Studies / Q000706:statistics & numerical data; D005820:Genetic Testing / Q000379:methods*; D006579:Heterozygote; D006801:Humans; D007674:Kidney Diseases / Q000175:diagnosis; D008297:Male; D009154:Mutation; D010641:Phenotype; D000071198:Pyrin; D050257:Tubulin Modulators / Q000627:therapeutic use
chemical_list: D003598:Cytoskeletal Proteins; C000604192:MEFV protein, human; D000071198:Pyrin; D050257:Tubulin Modulators; D003078:Colchicine