Department of Pediatrics, Division of Rheumatology, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Department of Pediatrics, Division of Rheumatology, Dr. Sami Ulus Maternity and Child Health and Diseases Research and Training Hospital, Ankara, Turkey.
Rheumatology (Oxford). 2024 Mar 1;63(3):791-797. doi: 10.1093/rheumatology/kead242.
Colchicine forms the mainstay of treatment in FMF. Approximately 5-10% of FMF patients are colchicine resistant and require anti-IL-1 drugs. We aimed to compare the characteristics of colchicine-resistant and colchicine-responsive patients and to develop a score for predicting colchicine resistance at the time of FMF diagnosis.
FMF patients (0-18 years) enrolled in the Turkish Paediatric Autoinflammatory Diseases (TURPAID) registry were included. The predictive score for colchicine resistance was developed by using univariate/multivariate regression and receiver operating characteristics analyses.
A total of 3445 FMF patients [256 (7.4%) colchicine-resistant and 3189 colchicine-responsive) were included (female:male ratio 1.02; median age at diagnosis 67.4 months). Colchicine-resistant patients had longer, more frequent attacks and were younger at symptom onset and diagnosis (P < 0.05). Fever, erysipelas-like erythema, arthralgia, arthritis, myalgia, abdominal pain, diarrhoea, chest pain, comorbidities, parental consanguinity and homozygosity/compound heterozygosity for exon 10 MEFV mutations were significantly more prevalent among colchicine-resistant than colchicine-responsive patients (P < 0.05). Multivariate logistic regression analysis in the training cohort (n = 2684) showed that age at symptom onset, attack frequency, arthritis, chest pain and having two exon 10 mutations were the strongest predictors of colchicine resistance. The score including these items had a sensitivity of 81.3% and a specificity of 49.1%. In the validation cohort (n = 671), its sensitivity was 93.5% and specificity was 53.8%.
We developed a clinician-friendly and practical predictive score that could help us identify FMF patients with a greater risk of colchicine resistance and tailor disease management individually at the time of diagnosis.
秋水仙碱是 FMF 治疗的主要药物。约 5-10%的 FMF 患者对秋水仙碱耐药，需要使用抗 IL-1 药物。本研究旨在比较秋水仙碱耐药和敏感患者的特征，并在 FMF 诊断时建立预测秋水仙碱耐药的评分。
本研究纳入了土耳其儿科自身炎症性疾病（TURPAID）登记处的 FMF 患者。使用单变量/多变量回归和接收者操作特征分析来建立秋水仙碱耐药的预测评分。
共纳入 3445 例 FMF 患者[256 例（7.4%）为秋水仙碱耐药，3189 例（92.6%）为秋水仙碱敏感]（男女比例 1.02；诊断时的中位年龄为 67.4 个月）。与秋水仙碱敏感组相比，秋水仙碱耐药组的发作时间更长、更频繁，起病和诊断时年龄更小（P<0.05）。发热、丹毒样红斑、关节痛、关节炎、肌痛、腹痛、腹泻、胸痛、合并症、父母近亲结婚和 MEFV exon 10 突变的纯合子/复合杂合子与秋水仙碱耐药患者更为常见（P<0.05）。在训练队列（n=2684）中进行的多变量逻辑回归分析显示，起病年龄、发作频率、关节炎、胸痛和存在两个 exon 10 突变是秋水仙碱耐药的最强预测因素。包括这些项目的评分具有 81.3%的敏感性和 49.1%的特异性。在验证队列（n=671）中，其敏感性为 93.5%，特异性为 53.8%。
我们开发了一种便于临床医生使用的实用预测评分，可以帮助我们识别 FMF 患者中对秋水仙碱耐药风险更高的患者，并在诊断时个体化地进行疾病管理。
