Is the decision maker a key determinant of colchicine withdrawal success in paediatric heterozygous familial Mediterranean fever patients?

OBJECTIVE

To examine the demographic and clinical features of paediatric familial Mediterranean fever (FMF) patients with a heterozygous Mediterranean fever (MEFV) gene mutation, focusing on colchicine discontinuation and factors linked to sustained remission.

METHOD: This retrospective study included 2325 paediatric FMF patients followed at a tertiary rheumatology clinic between August 2016 and February 2024. Of these, 1246 carried a heterozygous MEFV mutation, and 87 had stopped colchicine. Discontinuation was either physician decision (PD) or initiated by family/patient decision (FD). Demographic data, clinical symptoms, colchicine use, and MEFV variants were recorded. Patients were monitored after discontinuation to assess remission and the need for retreatment.

RESULTS

Of 87 patients, 47 (54%) were discontinued under PD and 40 (46%) under FD. The median discontinuation age was 10.8 years in PD and 11.7 years in FD. Colchicine was reinitiated in 25 patients (28.7%): 11 (4.0%) from PD and 14 (56.0%) from FD. Drug-free remission was maintained in 62 patients (71.3%), including 36 PD (58.1%) and 26 FD (41.9%) (p = 0.45). The pre-discontinuation asymptomatic period was significantly longer in PD (p < 0.01). PD patients also had a lower risk of reinitiating treatment than FD patients (p = 0.046). Older age at discontinuation was associated with sustained remission (p = 0.01).

CONCLUSION

Colchicine withdrawal under physician supervision and at older ages is associated with a lower risk of relapse and greater likelihood of maintaining drug-free remission.