Ben-Zvi Ilan, Krichely-Vachdi Tami, Feld Olga, Lidar Merav, Kivity Shaye, Livneh Avi
Department of Medicine F and the Rheumatology unit, Sheba Medical Center, Tel-Hashomer, Israel.
Orphanet J Rare Dis. 2014 Jan 9;9:3. doi: 10.1186/1750-1172-9-3.
To demonstrate and clinically, genetically and demographically characterize familial Mediterranean fever (FMF) patients, maintaining remission despite colchicine abstinence.
FMF patients were screened for an endurance of prolonged remission (≥ 3 years), despite refraining from colchicine. Clinical, demographic and genetic parameters were collected. Data were compared with those of consecutive control FMF subjects, coming to the clinic for their periodic follow up examination.
Of 1000 patients screened over 5 years, 33 manifested colchicine-free remission. The mean duration of the remission period was 12.6 ± 8.1 years. Patients in the remission group had milder severity of FMF, compared to the control group (22 vs. 11 patients with mild disease, respectively, p=0.003) and a longer diagnosis delay (21 ± 15.7 vs. 13.4 ± 13.5 years, respectively, p=0.04). Patients experiencing remission suffered mostly of abdominal attacks, low rate of attacks in other sites and low rate of chronic and non-attack manifestations. When the disease resumed activity, it responded well to colchicine, despite using a lower dose, as compared to the control subjects (p<0.001). None of the patients in this group was homozygous for the M694V mutation (p=0.0008).
Prolonged colchicine-free remission defines a rare and milder form of FMF with unique clinical, demographic, and molecular characteristics.
为了从临床、基因和人口统计学角度对家族性地中海热（FMF）患者进行描述，这些患者在停用秋水仙碱的情况下仍能维持缓解状态。
对FMF患者进行筛查，以确定其在停用秋水仙碱的情况下能否维持长期缓解（≥3年）。收集临床、人口统计学和基因参数。将数据与前来诊所进行定期随访检查的连续对照FMF受试者的数据进行比较。
在5年期间筛查的1000例患者中，有33例表现出无秋水仙碱缓解。缓解期的平均持续时间为12.6±8.1年。与对照组相比，缓解组患者的FMF严重程度较轻（分别为22例和11例轻度疾病患者，p=0.003），诊断延迟时间更长（分别为21±15.7年和13.4±13.5年，p=0.04）。经历缓解的患者主要表现为腹部发作，其他部位发作率低，慢性和非发作性表现率低。当疾病恢复活动时，尽管使用的剂量低于对照组，但对秋水仙碱反应良好（p<0.001）。该组患者均无M694V突变纯合子（p=0.0008）。
长期无秋水仙碱缓解定义了一种罕见且较轻的FMF形式，具有独特的临床、人口统计学和分子特征。
