Transplantation and Liver Surgery, Helsinki University Hospital and University of Helsinki, Helsinki, Finland.
Department of Medicine, Karolinska Institutet, Stockholm, Sweden.
United European Gastroenterol J. 2023 Nov;11(9):852-860. doi: 10.1002/ueg2.12452. Epub 2023 Aug 25.
Few studies have investigated mortality rates in patients with Wilson's disease and compared these to the general population. Here, we examined several clinical outcomes (including cardiovascular, psychiatric, neurologic conditions) in a population-based study of patients with Wilson's disease.
We used nationwide registers to identify all patients with a first diagnosis of Wilson's disease between 2002 and 2020 in Sweden. Each patient was matched by age, sex, and municipality with up to 10 reference individuals from the general population. Validated registers were used to investigate outcomes up to 19 years after baseline in patients and reference individuals.
We identified 151 patients with Wilson's disease matched with 1441 reference individuals. Median age at baseline was 26 years (IQR 17-42) and 50% were males. During a median follow-up of 6.6 years (IQR 2.9-12.9), 10 (6.6%) patients with Wilson's disease died compared with 31 (2.2%) reference individuals. This translated to a hazard ratio (HR) of 3.8 (95%CI = 1.8-8.1). Mortality was higher among Wilson's disease patients with baseline neuropsychiatric diagnoses (HR 7.9, 95%CI = 2.9-21.8). Cumulative mortality over 10 years was 9.3% (95%CI = 5.0-16.8) in Wilson's disease, compared to 2.4% (95%CI = 1.6-3.6) in reference individuals. We observed significantly elevated risks in the Wilson's disease group for incident cardiovascular disease, and incident psychiatric and neurological conditions when considering liver transplantation or death from other causes as competing events.
In this large population-based cohort study, patients with Wilson's disease had an almost four-fold increased mortality rate compared with matched individuals from the general population.
很少有研究调查威尔逊病患者的死亡率，并将其与普通人群进行比较。在这里，我们在一项基于人群的威尔逊病患者研究中检查了几种临床结局（包括心血管、精神和神经疾病）。
我们使用全国性登记册，在瑞典确定了 2002 年至 2020 年间首次诊断为威尔逊病的所有患者。每位患者都按照年龄、性别和市与普通人群中的最多 10 名参照个体相匹配。使用经过验证的登记册，对患者和参照个体的基线后 19 年的结局进行了调查。
我们确定了 151 名威尔逊病患者，与 1441 名参照个体相匹配。基线时的中位年龄为 26 岁（IQR 17-42），50%为男性。在中位随访 6.6 年（IQR 2.9-12.9）期间，10（6.6%）名威尔逊病患者死亡，而 31（2.2%）名参照个体死亡。这转化为风险比（HR）为 3.8（95%CI=1.8-8.1）。基线时存在神经精神诊断的威尔逊病患者死亡率更高（HR 7.9，95%CI=2.9-21.8）。在威尔逊病患者中，10 年内累积死亡率为 9.3%（95%CI=5.0-16.8），而在参照个体中为 2.4%（95%CI=1.6-3.6）。当考虑肝移植或其他原因导致的死亡作为竞争事件时，我们观察到威尔逊病组发生心血管疾病、精神和神经疾病的风险显著升高。
在这项大型基于人群的队列研究中，威尔逊病患者的死亡率与普通人群中的匹配个体相比几乎增加了四倍。
