Comorbidities in familial Mediterranean fever: analysis of 2000 genetically confirmed patients

Rheumatology (Oxford). 2020 Jun 1;59(6):1372-1380. doi: 10.1093/rheumatology/kez410.

Abstract

Objectives: FMF is the most common periodic fever syndrome, characterized by recurrent episodes of fever and serosal inflammation accompanied with high acute phase reactants. The analysis of possible comorbidities is important to understand the impact of these conditions on clinical care and whether they share a common aetiological pathway. In this study, we aimed to evaluate the comorbidities associated with FMF patients in a large genetically diagnosed cohort.

Methods: We retrospectively evaluated the medical and genetic records of FMF patients who were followed up by rheumatologists in Hacettepe University for 15 years. The FMF patients who had homozygous or compound heterozygous mutations were included in the study. Comorbidities associated with FMF were divided into three groups: (i) comorbidities directly related to FMF, (ii) comorbidities due to increased innate inflammation, and (iii) comorbidities that were regarded as being incidental.

Results: A total of 2000 patients with a diagnosis of FMF were enrolled in the study. Among them 636 were children (31.8%) and M694V was the most common mutation in patients with associated inflammatory conditions. The frequency of AS, Iga Vasculitis (Henoch-Schönlein purpura), juvenile idiopathic arthritis, polyarteritis nodosa, multiple sclerosis and Behçet's disease were increased in patients with FMF when compared with those in the literature.

Conclusion: This study represents the largest genetically confirmed cohort and compares the frequencies with existing national and international figures for each disease. The increased innate immune system inflammation seen in FMF may be considered as a susceptibility factor since it predisposes to certain inflammatory conditions.

Keywords: comorbidity; familial Mediterranean fever; inflammation.

Publication types

  • Evaluation Study

MeSH terms

  • Adolescent
  • Adult
  • Amyloidosis / epidemiology
  • Amyloidosis / genetics
  • Arthritis, Juvenile / epidemiology
  • Arthritis, Juvenile / genetics
  • Behcet Syndrome / epidemiology
  • Behcet Syndrome / genetics
  • Child
  • Comorbidity
  • Familial Mediterranean Fever / epidemiology*
  • Familial Mediterranean Fever / genetics*
  • Female
  • Genetic Diseases, Inborn / epidemiology*
  • Genetic Diseases, Inborn / genetics*
  • Humans
  • IgA Vasculitis / epidemiology
  • IgA Vasculitis / genetics
  • Male
  • Multiple Sclerosis / epidemiology
  • Multiple Sclerosis / genetics
  • Mutation
  • Polyarteritis Nodosa / epidemiology
  • Polyarteritis Nodosa / genetics
  • Pyrin / genetics*
  • Retrospective Studies
  • Young Adult

Substances

  • MEFV protein, human
  • Pyrin