Roche Products Ltd, Welwyn Garden City, UK.
F. Hoffmann-La Roche Ltd, Basel, Switzerland.
Eur J Neurol. 2022 Aug;29(8):2249-2257. doi: 10.1111/ene.15385. Epub 2022 May 27.
Huntington's disease (HD) is a rare neurodegenerative disease that presents with progressive psychological, cognitive and motor impairment. These diverse symptoms place a high burden on the patient, families and the healthcare systems they rely on. This study aimed to describe the epidemiology and clinical burden in individuals with HD compared with controls from the general population.
This cohort study utilised data from general practitioner medical records to estimate the prevalence and incidence of HD between January 2000 and December 2018. A cohort of incident HD cases were matched 1:3 to controls from the general population, in whom common clinical diagnoses, medications and healthcare interventions were compared at the time of first recorded diagnosis and at a time close to death. Incidence rates of common diagnoses and mortality were compared with matched controls in the time following HD diagnosis.
Prevalence of HD increased between 2000 and 2018, whilst incidence remained stable. Prevalence of psychiatric diagnoses and symptomatic treatments were higher in HD cases than controls. A higher relative risk of psychotic disorders, depression, insomnia, dementia, weight loss, pneumonia and falls was observed in HD cases. Risk of death was >4 times higher in HD, with a median survival of ~12 years from first recorded diagnosis.
This study demonstrates the significant and progressive clinical burden in individuals with HD up to 18 years after first recorded diagnosis.
亨廷顿病（HD）是一种罕见的神经退行性疾病，表现为进行性心理、认知和运动障碍。这些不同的症状给患者、家庭和他们所依赖的医疗保健系统带来了沉重的负担。本研究旨在描述与一般人群中的对照相比，HD 患者的流行病学和临床负担。
这项队列研究利用全科医生医疗记录中的数据，估计了 2000 年 1 月至 2018 年 12 月期间 HD 的患病率和发病率。一个新发病例的 HD 队列与一般人群中的对照进行了 1:3 的匹配，在首次记录诊断时以及接近死亡时，比较了常见的临床诊断、药物和医疗干预措施。在 HD 诊断后，比较了常见诊断和死亡率与匹配对照的时间。
2000 年至 2018 年间，HD 的患病率增加，而发病率保持稳定。HD 患者的精神科诊断和症状性治疗的患病率高于对照组。HD 患者中精神障碍、抑郁、失眠、痴呆、体重减轻、肺炎和跌倒的相对风险更高。HD 患者的死亡风险高出 4 倍，从首次记录诊断到中位生存时间约为 12 年。
本研究表明，在首次记录诊断后 18 年内，HD 患者的临床负担显著且不断增加。
