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AB0987 The relationship between anti-interleukin-1 therapies and mefv gene mutations in familial mediterranean fever patients: a single center experience
  1. ME Derin1,
  2. S Gültekin2,
  3. M Şahin3,
  4. A Şahin1
  1. 1Rheumatology - Internal Medicine
  2. 2Internal Medicine
  3. 3Biochemistry, Cumhuriyet University Medical Faculty, Sivas, Turkey

Abstract

Background Familial Mediterranean fever (FMF) is an autoinflammatory disease characterizing recurrent self-limiting attacks of inflammation mainly placed in serosal surfaces of the body with fever (1). Colchicine is an important weapon of the humanity in FMF treatment yet. However, the puzzle of inflammation was solved, and so, inflammasome complex and interleukin-1 were discovered. Eventually, new era started with anti-interleukin-1 agents in colchicine resistant and/or intolerant FMF patients (2).

Objectives The aim of this study is to evaluate the effectiveness of anti-interleukin-1 (anti-IL-1) agents on the characteristics of attacks, the adverse effects associated with anti-IL-1 treatment, and relation between therapy and MEFV gene mutations in 23 FMF patients with resistant and/or intolerant to colchicine.

Methods Between January 2015 and December 2016, twenty-three-FMF patients that following-up at Cumhuriyet University Medical Faculty Rheumatology-Internal Medicine Department were included in to the study. Anakinra (69,6%), and canacinumab (30,4%)] were used in 23 FMF patients. 20 cases were resistant to colchicine, 3 were intolerant to colchicine.

Results The median age of the patients was 28 years,(18–54) and the median age at diagnosis was 20 years (3–50). Of the FMF patients, nine (39.1%) were female and fourteen (60.9%) were male. The distribution of MEFV gene mutation frequencies in the FMF patients was no mutation in one (4,3.%) patient, M694V heterozygous in nine (39,1%), M694V homozygous in 7 (30,4%), E148Q heterozygous in one (4,3%), and compound heterozygous mutation in 3. (13%) patients. 16 patients used anakinra (100mg/day) for 6 mounths (median) and 7 used canacinumab (150mg/2 months) for 3 mounths (median). Four of 7 patiens were resistant to anakinra. After a median follow up 6 months overall clinical response [no attack (18 patients) or decreased frequency of attacks (5 patients)] was %100. In an FMF patient with no mutation, his brother and mother had FMF with no mutations on MEFV gene. We achieved good clinical and laboratory responses in the patient by canacinumab.

Conclusions Anti-IL-1 agents can be got involved in a new place safely and effectively in FMF patients along with colchicine. In addition, whole gene analysis should be done in refractory FMF patients with no mutations in order to could investigate new mutations, epigenetic mechanisms or other unexplained reasons.

References

  1. Ben-Chetrit E, Touitou I. Familial Mediterranean Fever in the world. Arthritis Rheum 2009; 61:1447–1453.

  2. Özdoğan H, Ugurlu S. The emerging treatments in Familial Mediterranean fever. In: Gattorno M, editor. Familial Mediterranean Fever, 1st edition, Switzerland: Springer; 2015:137–157.

References

Disclosure of Interest None declared

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