Objective. To analyze the potential role of colchicine monotherapy in patients with tumor necrosis factor receptor associated periodic syndrome (TRAPS) in terms of control of clinical and laboratory manifestations. Methods. Patients with TRAPS treated with colchicine monotherapy were retrospectively enrolled; demographic, clinical and therapeutic data were collected and statistically analysed after having clustered patients according to different times at disease onset, penetrance of mutations, dosage of colchicine, and different disease manifestations. Results. 24 patients (14 males; 15 with pediatric disease onset) treated with colchicine monotherapy were enrolled. Colchicine resulted in a complete response in 3 (12.5%) cases, partial response in 14 (58.3%) patients, and lack of response in 7 (29.2%) patients. There were not significant differences in colchicine response between pediatric and adult disease onset (), between low- and high-penetrance mutations (), and according to different dosages (). No significant differences were identified in the frequency of specific disease manifestations between patients experiencing any response to colchicine and patients with lack of response. Conclusions. Colchicine monotherapy is useful in a low percentage of TRAPS patients; nevertheless, it could be attempted in patients with milder phenotypes and at a lower risk of developing reactive amyloidosis.

中文翻译：

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秋水仙碱治疗在肿瘤坏死因子受体相关周期性综合征 (TRAPS) 中的作用：来自 AIDA 网络的真实数据。

客观。分析秋水仙碱单药治疗对肿瘤坏死因子受体相关周期性综合征（TRAPS）患者在控制临床和实验室表现方面的潜在作用。方法。回顾性纳入了接受秋水仙碱单药治疗的 TRAPS 患者；根据发病的不同时间、突变的外显率、秋水仙碱的剂量和不同的疾病表现对患者进行聚类后，收集人口统计学、临床和治疗数据并进行统计分析。结果. 入组了接受秋水仙碱单药治疗的 24 名患者（14 名男性；15 名儿童发病）。秋水仙碱导致 3 例（12.5%）患者完全缓解，14 例（58.3%）患者部分缓解，7 例（29.2%）患者无缓解。儿童和成人发病时对秋水仙碱的反应没有显着差异（)，介于低外显率突变和高外显率突变之间 (），并根据不同的剂量（）。在对秋水仙碱有任何反应的患者和没有反应的患者之间，特定疾病表现的频率没有显着差异。结论。秋水仙碱单一疗法可用于低百分比的 TRAPS 患者；尽管如此，可以在表型较轻且发生反应性淀粉样变性的风险较低的患者中进行尝试。