Medical Genetics Group, School of Medicine, Medical Sciences, Nutrition and Dentistry, University of Aberdeen, Aberdeen, AB25 2ZD, UK.
North of Scotland Regional Genetics Service, Aberdeen Royal Infirmary, Clinical Genetics Centre, Foresterhill, Aberdeen, AB25 2ZA, UK.
J Neurol. 2021 Nov;268(11):4170-4177. doi: 10.1007/s00415-021-10505-w. Epub 2021 Apr 15.
Huntington disease prevalence was first estimated in Grampian, northern Scotland in 1984. Molecular testing has since increased ascertainment.
To estimate the prevalence of manifest Huntington disease and identified pre-symptomatic gene expansion carriers (IPGEC) in northern Scotland, and estimate the magnitude of biases in prevalence studies that rely upon routine coding in primary care records.
Cases were ascertained using North of Scotland genetic laboratory, clinic, and hospital records. Prevalence was calculated for manifest and IPGEC on 01/07/2016 and 01/01/2020 and compared with local published data.
The prevalence of manifest Huntington disease in northern Scotland in 2020 was 14.6 (95% CI 14.3-15.3) per 100,000, and of IPGEC was 8.3 (95% CI 7.8-9.2) per 100,000. Whilst the population of northern Scotland decreased by 0.05% between 2016 and 2020, the number of manifest and identified pre-symptomatic gene expansion carriers increased by 7.4% and 23.3%, respectively. Manifest disease in Grampian increased by 45.9% between 1984 and 2020. More women than men had a diagnosis. General Practice coding underestimated symptomatic molecularly confirmed prevalence by 2.2 per 100,000 people.
Even in an area with previously high ascertainment, there has been a 45.9% increase in manifest Huntington disease over the last 30 years. Within our catchment area, prevalence varies between health board regions with similar community-based services. Such variation in prevalence could have major drug cost and service delivery implications, especially if expensive, complexly administered therapies prove successful. Health services should gather accurate population-based data on a regional basis to inform service planning.
1984 年，苏格兰北部的格兰扁地区首次对亨廷顿病的患病率进行了估计。自那时以来，分子检测已经增加了确定的病例。
估计苏格兰北部显性亨廷顿病和已识别的无症状基因扩展携带者（IPGEC）的患病率，并估计依赖于初级保健记录常规编码的患病率研究中的偏差程度。
使用苏格兰北部遗传实验室、诊所和医院记录来确定病例。在 2016 年 7 月 1 日和 2020 年 1 月 1 日计算显性和 IPGEC 的患病率，并与当地已发表的数据进行比较。
2020 年苏格兰北部显性亨廷顿病的患病率为 14.6（95%CI 14.3-15.3）/100,000，无症状基因扩展携带者的患病率为 8.3（95%CI 7.8-9.2）/100,000。虽然苏格兰北部的人口在 2016 年至 2020 年间减少了 0.05%，但显性和已识别的无症状基因扩展携带者的数量分别增加了 7.4%和 23.3%。1984 年至 2020 年间，格兰扁地区的显性疾病增加了 45.9%。诊断出的患者中女性多于男性。普通科医生的编码低估了经分子确认的有症状患病率，少了 2.2/100,000 人。
即使在先前高检出率的地区，在过去 30 年中，显性亨廷顿病的发病率也增加了 45.9%。在我们的服务区内，患病率在不同的卫生委员会区域之间存在差异，尽管这些区域都提供了类似的基于社区的服务。这种患病率的差异可能对药物成本和服务提供产生重大影响，特别是如果昂贵、复杂的治疗方法取得成功。卫生服务部门应根据区域基础收集准确的基于人群的数据，以为服务规划提供信息。
