Jeyakumar Harini, Chandan Joht Singh, Nirantharakumar Krishnarajah, Lee Siang Ing
Department of Applied Health Sciences, University of Birmingham, Birmingham, UK.
Department of Population Health Sciences, Kings College London, London, UK.
Orphanet J Rare Dis. 2025 Jul 1;20(1):326. doi: 10.1186/s13023-025-03849-3.
Hereditary Spastic Paraplegia (HSP) is a rare genetic neurological disorder that causes progressive spasticity and weakness in the lower limbs. This study aims to describe the prevalence and incidence of HSP and examine common mental health outcomes (depression and anxiety) in HSP patients in England and Northern Ireland.
This retrospective cohort study used CPRD Aurum primary care data from 1 January 2000 to 31 December 2021. Annual cross-sectional and cohort studies were conducted for yearly prevalence and incidence of HSP. Common mental health outcomes were examined with a 1:4 matched cohort (age+/-1 year, sex, general practice). Descriptive analysis and logistic regression assessed the characteristics of the HSP cohort and baseline depression and anxiety. Cox regression assessed the hazard of new diagnosis of depression and anxiety.
The overall cohort included 31,302,579 patients; the matched cohort included 1455 HSP patients and 5726 control non-HSP patients. Patients who were male (adjusted odds ratio [aOR] 1.45, 95% CI: 1.31-1.61), of White ethnicity (lower odds in all other ethnicity) and from most other geographical areas compared to London had higher odds of a HSP diagnosis, with the highest odds for North East (aOR 3.51, 95% CI: 2.73-4.50) and Northern Ireland (aOR 3.15, 95% CI: 1.62-6.16). HSP prevalence increased from 2.83 per 100,000 population (95% CI: 2.49-3.20) in 2000 to 6.27 per 100,000 population (95% CI: 5.83-6.73) in 2021. HSP incidence remained stable from 0.12 per 100,000 person-years (95% CI: 0.06-0.22) in 2000 to 0.29 per 100,000 person-years (95% CI: 0.20-0.40) in 2021. HSP patients had higher odds of baseline pre-existing depression (aOR: 1.74, 95% CI: 1.47-2.06) and anxiety (aOR: 1.31, 95% CI: 1.08-1.60); and higher hazard for new diagnosis of depression (adjusted hazard ratio [aHR]: 1.57, 95% CI: 1.26-1.96) and anxiety (aHR: 1.41, 95% CI: 1.12-1.76).
This first descriptive epidemiological study for HSP in England and Northern Ireland, demonstrated the utility of primary care routine health records for studying rare diseases. The higher rates of common mental health conditions in HSP patients illustrated the importance of access to mental health support.
遗传性痉挛性截瘫（HSP）是一种罕见的遗传性神经系统疾病，会导致下肢进行性痉挛和无力。本研究旨在描述HSP在英格兰和北爱尔兰的患病率和发病率，并研究HSP患者常见的心理健康状况（抑郁和焦虑）。
这项回顾性队列研究使用了2000年1月1日至2021年12月31日的CPRD Aurum初级保健数据。对HSP的年度患病率和发病率进行了年度横断面研究和队列研究。使用1:4匹配队列（年龄±1岁、性别、全科医疗）检查常见的心理健康状况。描述性分析和逻辑回归评估了HSP队列的特征以及基线抑郁和焦虑情况。Cox回归评估了新发抑郁和焦虑的风险。
整个队列包括31302579名患者；匹配队列包括1455名HSP患者和5726名对照非HSP患者。与伦敦相比，男性患者（调整后的优势比[aOR]为1.45，95%置信区间：1.31-1.61）、白人种族（所有其他种族的优势比更低）以及来自大多数其他地理区域的患者被诊断为HSP的几率更高，其中东北部地区的几率最高（aOR为3.51，95%置信区间：2.73-4.50），北爱尔兰地区为（aOR为3.15，95%置信区间：1.62-6.16）。HSP的患病率从2000年的每10万人2.83例（95%置信区间：2.49-3.20）增加到2021年的每10万人6.27例（95%置信区间：5.83-6.73）。HSP的发病率从2000年的每10万人年0.12例（95%置信区间：0.06-0.22）稳定至2021年的每10万人年0.29例（95%置信区间：0.20-0.40）。HSP患者基线时已有抑郁（aOR：1.74，95%置信区间：1.47-2.06）和焦虑（aOR：1.31，95%置信区间：1.08-1.60）的几率更高；新发抑郁（调整后的风险比[aHR]：1.57，95%置信区间：1.26-1.96）和焦虑（aHR：1.41，95%置信区间：1.12-1.76）的风险也更高。
这项针对英格兰和北爱尔兰HSP的首次描述性流行病学研究，证明了初级保健常规健康记录在研究罕见疾病方面的作用。HSP患者中常见心理健康状况的发生率较高，这表明获得心理健康支持的重要性。
