BACKGROUND AND OBJECTIVES Stiff person syndrome spectrum disorder (SPSD) is a rare autoimmune disorder characterized by progressive muscle stiffness and painful spasms with an estimated prevalence of 1-2 cases per million people. Population-based epidemiologic studies are lacking because of both poor patient capture and the lack of standardized diagnostic criteria. Objectives of this study were to describe the incidence and prevalence of SPSD within the University of Colorado Health (UCH) system and apply previously proposed published criteria for SPSD within this population. METHODS We queried Health Data Compass, an electronic health data repository for a large academic health care system, from 2012 through 2022 for all patients older than 18 years with International Classification of Diseases, 10th Revision (ICD-10) codes pertaining to stiff person syndrome. Records were reviewed for diagnostic confirmation. We calculated yearly and period prevalence and incidence rates based on observable person-time exposure of our cohort. We applied previously published Mayo Clinic and Johns Hopkins criteria for SPSD and compared period prevalence based on each criterion and evaluated for agreement. RESULTS Two hundred and seventy-three patients met the initial inclusion criteria using ICD-10 codes; 59 were confirmed to have SPSD. The mean age was 49.7 years (SD = 12.9), 59.3% were female, 59.3% were considered antibody positive. The total database population over the interval was 2,801,674 persons. The estimated prevalence of SPSD based on our UCH cohort was 2.11 (95% CI 1.57-2.64) per 100,000 persons. The average yearly incidence was 0.35 per 100,000 person-years (95% CI 0.27-0.46). Applying different clinical diagnostic criteria, the estimated prevalence ranged from 1.36 (95% CI 0.93-1.79) to 1.82 (95% CI 1.32-2.32) per 100,000 persons. DISCUSSION We describe a prevalence of SPSD of 2.11 per 100,000 persons in our UCH cohort. Prevalence estimates differed depending on which clinical diagnostic criteria were applied and whether possible SPSD cases were included. Using the most stringent criteria for diagnosis, we report a prevalence of 1.36 per 100,000 persons. While our study uniquely captures many US demographic groups, limitations remain because this is a retrospective review of a single system. Additional studies are needed to determine whether these results are representative of a national or global population.

中文翻译：

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在科罗拉多州的大型卫生系统中对僵人综合症流行病学的人群研究。


背景和目标 僵人综合征谱系障碍 （SPSD） 是一种罕见的自身免疫性疾病，其特征是进行性肌肉僵硬和疼痛性痉挛，估计患病率为每百万人 1-2 例。由于患者捕获率差和缺乏标准化诊断标准，缺乏基于人群的流行病学研究。本研究的目的是描述科罗拉多大学健康 （UCH） 系统中 SPSD 的发生率和患病率，并在该人群中应用先前提出的已发布的 SPSD 标准。方法 我们从 2012 年到 2022 年查询了 Health Data Compass，这是一个大型学术医疗保健系统的电子健康数据存储库，适用于所有 18 岁以上具有国际疾病分类第 10 次修订版 （ICD-10） 代码的患者与僵人综合征有关。审查记录以进行诊断确认。我们根据队列的可观察人时间暴露计算了年和期间的患病率和发病率。我们应用了先前发表的梅奥诊所和约翰霍普金斯大学 SPSD 标准，并根据每个标准比较了经期患病率并评估了一致性。结果 273 例患者使用 ICD-10 代码符合初始纳入标准;59 例确诊患有 SPSD。平均年龄为 49.7 岁 （SD = 12.9），59.3% 为女性，59.3% 被认为抗体阳性。在此期间，数据库总人口为 2,801,674 人。根据我们的 UCH 队列，SPSD 的估计患病率为每 100,000 人 2.11 例 （95% CI 1.57-2.64）。平均年发病率为 0.35/100,000 人年 （95% CI 0.27-0.46）。应用不同的临床诊断标准，估计患病率范围为 1.每 100,000 人中有 36 例 （95% CI 0.93-1.79） 至 1.82 例 （95% CI 1.32-2.32）。讨论 我们描述了 UCH 队列中 SPSD 的患病率为每 100,000 人 2.11 例。患病率估计值因应用临床诊断标准以及是否纳入可能的 SPSD 病例而异。使用最严格的诊断标准，我们报告的患病率为每 100,000 人 1.36 例。虽然我们的研究独特地捕捉了许多美国人口群体，但局限性仍然存在，因为这是对单个系统的回顾性回顾。需要更多的研究来确定这些结果是否代表全国或全球人口。