Background/Purpose:

Familial Mediterranean fever (FMF) traditionally has been considered an autosomal recessive disease; however, the diagnosis remains predominantly clinical, since mutations cannot always be identified on both alleles.

The aim of our study was to evaluate cessation of colchicine therapy in selected group of patients with FMF who possess only 1 or none demonstrable MEFV mutation.

Methods:

We performed a prospective controlled study evaluated cessation of colchicines therapy in patients that were previously diagnosed and treatd for FMF based on clinical features and did not carry any common MEFV mutation or were heterozygote for one of the mutations .

Patients were included in the study if they were between the age of 2-18 years and were treated with colchicine, had a normal level of serum amyloid A (SAA )and had at least 6 months free of FMF attacks.

SAA levels were evaluated before colchicine cessation and at 3 and 6 months following cessation. Colchicine therapy was resumed in case of FMF attacks reappeared during this period.

Results:

thirteen patients ages 10.6±4 years enrolled in the study. Prior to entering the study patients were treated with colchicine for an average of 36.3 month ( 7-141 months median 31 months ). The average time with no FMF attacks before enrolment into the study was 12.8±8.6 months and the average follow up after stopping colchicine therapy was 16.3±6 months . Five patients were heterozygote for the M694Vmutation four patients were heterozygote for E148Q two patients had other mutations and two patients had no mutations .

Five patients (41.6%) had an FMF attack during follow up and needed to renew colchicine therapy, the average time to renew colchicine therapy was 5.3 months (range 1.5-11.4 months) 3 of them (60%) carried the M694V mutation.

There were no differences between the groups of patients that did not relapse and the groups that needed to renew therapy regarding age (10.7±1.6 vs 10.6±6.3 p- 0.97) or levels of SAA at time of enrolment (4±3.6 vs 3.3±2.4 p-0.7). Length of colchicine therapy prior to enrolment showed tendency that didn’t reach significance towards longer time in the patients needed to resume therapy (22.3±12.6 vs 53±51 months p-0.18) .

Conclusion:

Cessation of colchicine therapy in selected group of patients who are not homozygous for the common MEFV mutation should be considered. Monitoring SAA levels every 3 months could not predict FMF attacks following cessation of colchicine therapy.

« Back to 2017 ACR/ARHP Annual Meeting

ACR Meeting Abstracts - https://acrabstracts.org/abstract/controlled-discontinuation-of-colchicine-therapy-in-familial-mediterranean-fever-patients-with-single-mefv-mutation/