The MEFV gene and its association with familial Mediterranean fever, severe atopy, and recurrent respiratory tract infections

• M.H. Celiksoy ^[1] ; C. Dogan ^[2] ; B. Erturk ^[3] ; E. Keskin ^[4] ; B.S. Ada ^[5]
  1. [1] Department of Pediatric Allergy and Immunology, Gaziosmanpasa Taksim Education and Research Hospital, Istanbul, Turkey
  2. [2] Department of Pediatrics, Gaziosmanpasa Taksim Education and Research Hospital, Istanbul, Turkey
  3. [3] Department of Genetic Diseases, Okmeydanı Education and Research Hospital, Istanbul, Turkey
  4. [4] Department of Genetic Diseases, Haseki Education and Research Hospital, Istanbul, Turkey
  5. [5] Department of Genetic Diseases, Duzen Laboratories Group, Ankara, Turkey

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• Localización: Allergologia et immunopathologia: International journal for clinical and investigate allergology and clinical immunology, ISSN-e 1578-1267, ISSN 0301-0546, Vol. 48, Nº. 5, 2020, págs. 430-440
• Idioma: inglés
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• Resumen

  • Background Familial Mediterranean fever (FMF) is the most common auto-inflammatory disease and is characterized by self-limiting episodes of fever and polyserositis. The aim of this study was to determine the atopic clinical findings associated with the MEFV gene.

    Methods A retrospective chart review was conducted of pediatric patients who had received a diagnosis of familial Mediterranean fever between August 2015 and November 2018.

    Results A total of 454 patients with familial Mediterranean fever were evaluated. The median age of diagnosis was 60 months (min–max: 6–228) and the percentage of patients who were male was 57.5%. A MEFV gene mutation was determined in 310 (68.3%) children. The most frequent genetic mutation was a R202Q heterozygote mutation, which was found in 95 patients (20.9%). When compared with MEFV-negative patients, elevation of serum amyloid A and fibrinogen levels during an episode of FMF was found to occur more frequently in MEFV-positive patients (p=0.019 and 0.027, respectively). Male gender, cigarette exposure, and a younger diagnosis age were seen more frequently in patients who had episodes with fever (p=0.039, 0.022, and 0.001, respectively). Chronic cough with sputum and persistent purulent rhinitis were more frequent in the group which did not experience fever episodes (p=0.003 and 0.002, respectively).

    Conclusions While being a periodic fever syndrome, familial Mediterranean fever also presents as a multisystemic disease with heterogeneous clinical symptoms. Severe atopic diseases and recurrent respiratory tract infections are characteristic features of this disease.