Rheumatology Clinic, Doruk Hospital, Bursa, Turkey.
Rheumatology Clinic, Ümraniye Training and Research Hospital, İstanbul, Turkey.
Rheumatol Int. 2022 Jan;42(1):81-86. doi: 10.1007/s00296-021-04997-y. Epub 2021 Sep 22.
As an autosomal recessive autoinflammatory disease, treatment of Familial Mediterranean fever (FMF) has still gaps. Clinical studies are proving the safety and efficacy of colchicine in patients with FMF. However, there are very limited data on colchicine-resistant patients treated with canakinumab. This study presents the real-life experience of two rheumatology clinics choosing canakinumab in adult patients with FMF resistant to standard therapy. Treatment-resistant FMF patients with validated diagnoses enrolled from two rheumatology clinics. A special database was generated for the study and patients' demographic characteristics, FMF attack characteristics, adverse events seen during treatment, family history, MediterraneanFeVer (MEFV) mutations, and laboratory results recorded. Patients with missing dates were excluded from the analysis. PRAS score is used to assess the disease activity. A total of thirty colchicine and/or anakinra-resistant patients were enrolled to study. Twenty-one patients were female (70%) and the average disease duration was 21 years. The time from colchicine to anakinra was 4.27 years and the time to canakinumab was 1.52 years. Abdominal pain (100%), fever (93.3%), chest pain (56.7%) were the most prevailed findings. Morning stiffness, myalgia, low back pain, chest pain was the predominant musculoskeletal findings. Median colchicine dose was 2 mg/day (min-max 0.5-3 mg/day). The most common side effect during anakinra treatment, apart from treatment unresponsiveness, was injection site reactions. Before canakinumab treatment, the mean number of attacks was 8.3 in the 24 weeks, 4.33 in the third month of canakinumab treatment, and 1.56 at the last visit (p < 0.001). Also, the mean duration of attacks was 67.20 h before canakinumab treatment, this period decreased to 18.27 h after six months of canakinumab treatment (p < 0.001). Canakinumab is effective and tolerable to reduce attacks in resistant patients with FMF. Laboratory findings and clinical observation reveals that canakinumab can be another treatment option for colchicine and/or anakinra non-responders. Further studies with larger patients are required to validate recent findings with canakinumab.
作为一种常染色体隐性自身炎症性疾病，家族性地中海热（FMF）的治疗仍存在空白。临床研究证明了秋水仙碱在 FMF 患者中的安全性和有效性。然而，对于用卡那单抗治疗的秋水仙碱耐药患者，数据非常有限。本研究介绍了两家风湿病诊所选择卡那单抗治疗对标准治疗耐药的 FMF 成年患者的真实经验。从两家风湿病诊所招募了经验证诊断为治疗耐药 FMF 的患者。为该研究生成了一个特殊数据库，并记录了患者的人口统计学特征、FMF 发作特征、治疗期间出现的不良事件、家族史、地中海热（MEFV）突变和实验室结果。从分析中排除了日期缺失的患者。PRAS 评分用于评估疾病活动度。共有 30 名秋水仙碱和/或阿那白滞素耐药患者入组研究。21 名患者为女性（70%），平均病程为 21 年。从秋水仙碱到阿那白滞素的时间为 4.27 年，到卡那单抗的时间为 1.52 年。腹痛（100%）、发热（93.3%）、胸痛（56.7%）是最常见的发现。晨僵、肌痛、腰痛、胸痛是主要的肌肉骨骼表现。秋水仙碱的中位剂量为 2 毫克/天（最小-最大剂量为 0.5-3 毫克/天）。除治疗无反应外，阿那白滞素治疗期间最常见的不良反应是注射部位反应。在接受卡那单抗治疗之前，24 周内的平均发作次数为 8.3 次，卡那单抗治疗第 3 个月为 4.33 次，最后一次就诊时为 1.56 次（p<0.001）。此外，在接受卡那单抗治疗之前，发作的平均持续时间为 67.20 小时，在接受卡那单抗治疗 6 个月后，这一时期减少至 18.27 小时（p<0.001）。卡那单抗可有效且耐受地减少 FMF 耐药患者的发作。实验室发现和临床观察表明，卡那单抗可能是秋水仙碱和/或阿那白滞素无反应者的另一种治疗选择。需要更大规模的患者进行进一步研究，以验证卡那单抗的最新发现。
