Background <p>Familial Mediterranean fever (FMF) is an autoinflammatory disorder associated with MEFV gene mutations. Recurrent febrile episodes associated with serosal inflammation, arthritis, and characteristic skin findings represent the classic presentation of FMF. Lifelong colchicine treatment is the standard of care. However, the feasibility of colchicine cessation in FMF remains controversial, with limited data, particularly in adults.</p> Methods <p>FMF patients diagnosed between January 2005 and December 2021 were screened, and those who voluntarily discontinued colchicine without a clinical indication were identified. After applying exclusion criteria, eligible patients were divided into two groups based on the presence of attacks in the 6&#xa0;months before discontinuation. Baseline characteristics and 1-year post-discontinuation outcomes were then compared between the groups.</p> Results <p>Fifty-four FMF patients met the eligibility criteria: 17 attack-free for 6&#xa0;months before colchicine discontinuation (Group 1) and 37 with attacks (Group 2). Group 1 patients were younger, started colchicine earlier, and had a milder phenotype with no M694V homozygosity. After discontinuation, Group 2 had higher attack rates, while CRP levels rose in both groups, more prominently in Group 1. Within 1&#xa0;year, four patients (23.5%) in Group 1 and one (2.7%) in Group 2 remained attack-free with low CRP, and three patients in Group 2 restarted colchicine.</p> Conclusions <p>Attack frequency during discontinuation can be anticipated from pre-discontinuation patterns; however, subclinical inflammation is less predictable. FMF patients with a milder phenotype without M694V homozygosity showed higher success rates of colchicine discontinuation in the first year. These findings suggest that colchicine discontinuation may be feasible in carefully selected patients under close monitoring.</p> <p><Table Float="No" ID="Taba"> <tgroup cols="2"> <colspec align="left" colname="c1" colnum="1" /> <colspec align="left" colname="c2" colnum="2" /> <tbody> <row> <entry align="left" nameend="c2" namest="c1"> <p><b>Key Points</b></p> <p>• <i>A limited subset of FMF patients with mild, attack-free disease and without M694V homozygosity may be candidates for carefully individualized consideration of colchicine discontinuation.</i></p> <p>• <i>In the case of discontinuation of colchicine in FMF patients, the attack frequency before discontinuation, even short-term (6&#xa0;months), can predict the attack frequency in the discontinuation period.</i></p> <p>• <i>The subclinical inflammation should be evaluated independently, irrespective of the clinical phenotype of the FMF patients, if the colchicine discontinuation is considered. Therefore, close monitoring is a must after discontinuation.</i></p> </entry> </row> </tbody> </tgroup> </Table></p>

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Colchicine discontinuation in familial Mediterranean fever: short-term outcomes by pre-discontinuation attack frequency

  • Berkay Aktas,
  • Kerem Parlar,
  • Burak Senturk,
  • Alperen Saglam,
  • Ata Dundar,
  • Ceren Uc,
  • Beste Acar,
  • Serdal Ugurlu

摘要

Background

Familial Mediterranean fever (FMF) is an autoinflammatory disorder associated with MEFV gene mutations. Recurrent febrile episodes associated with serosal inflammation, arthritis, and characteristic skin findings represent the classic presentation of FMF. Lifelong colchicine treatment is the standard of care. However, the feasibility of colchicine cessation in FMF remains controversial, with limited data, particularly in adults.

Methods

FMF patients diagnosed between January 2005 and December 2021 were screened, and those who voluntarily discontinued colchicine without a clinical indication were identified. After applying exclusion criteria, eligible patients were divided into two groups based on the presence of attacks in the 6 months before discontinuation. Baseline characteristics and 1-year post-discontinuation outcomes were then compared between the groups.

Results

Fifty-four FMF patients met the eligibility criteria: 17 attack-free for 6 months before colchicine discontinuation (Group 1) and 37 with attacks (Group 2). Group 1 patients were younger, started colchicine earlier, and had a milder phenotype with no M694V homozygosity. After discontinuation, Group 2 had higher attack rates, while CRP levels rose in both groups, more prominently in Group 1. Within 1 year, four patients (23.5%) in Group 1 and one (2.7%) in Group 2 remained attack-free with low CRP, and three patients in Group 2 restarted colchicine.

Conclusions

Attack frequency during discontinuation can be anticipated from pre-discontinuation patterns; however, subclinical inflammation is less predictable. FMF patients with a milder phenotype without M694V homozygosity showed higher success rates of colchicine discontinuation in the first year. These findings suggest that colchicine discontinuation may be feasible in carefully selected patients under close monitoring.

Key Points

A limited subset of FMF patients with mild, attack-free disease and without M694V homozygosity may be candidates for carefully individualized consideration of colchicine discontinuation.

In the case of discontinuation of colchicine in FMF patients, the attack frequency before discontinuation, even short-term (6 months), can predict the attack frequency in the discontinuation period.

The subclinical inflammation should be evaluated independently, irrespective of the clinical phenotype of the FMF patients, if the colchicine discontinuation is considered. Therefore, close monitoring is a must after discontinuation.