Department of Endocrinology, Hematology and Gerontology, Chiba University Graduate School of Medicine, 1-8-1 Inohana, Chuo-ku, Chiba, 260-8670, Japan.
Division of Diabetes, Metabolism and Endocrinology, Chiba University Hospital, 1-8-1 Inohana, Chuo-ku, Chiba, 260-8670, Japan.
Orphanet J Rare Dis. 2022 Jun 13;17(1):226. doi: 10.1186/s13023-022-02383-w.
Werner syndrome (WS) is an autosomal recessive premature ageing disease that causes accelerated ageing-like symptoms after puberty. Previous studies conducted in the late 2000s reported that malignant neoplasms and atherosclerotic diseases were the two leading causes of death, with life expectancies in the mid-50 s. However, the recent lifespan and cause of death in patients with WS remain unclear.
To clarify the latest lifespan and causes of death in patients with WS.
We conducted a questionnaire-based survey in 2020 among the primary doctors of WS patients who were identified in previous nationwide surveys in Japan and clarified the following: the age of WS patients (age of death, if the patient had already died), sex, and cause of death. Patients who died in 2010 or earlier were excluded from the analysis.
A total of 123 living patients were identified at the time of the survey in 2020. Fourteen WS patients died between 2011 and 2020, with a mean age of 59.0 ± 8.9 years (mean ± SD). The most common cause of death was non-epithelial tumours, accounting for eight deaths, while no patient died of atherosclerotic diseases.
Compared to previous studies, this study suggests that the lifespan of patients with WS has been extended. Although there were no deaths due to atherosclerotic diseases, non-epithelial tumours were still the leading cause of death. Further development of screening and treatment methods for these tumours is required.
Werner 综合征（WS）是一种常染色体隐性遗传病，在青春期后会导致加速衰老样症状。2000 年代后期的先前研究报告称，恶性肿瘤和动脉粥样硬化疾病是导致死亡的两个主要原因，预期寿命在 50 多岁中期。然而，最近 WS 患者的寿命和死亡原因仍不清楚。
阐明 WS 患者的最新寿命和死亡原因。
我们于 2020 年对日本以前全国性调查中确定的 WS 患者的主要医生进行了基于问卷调查的调查，阐明了以下内容：WS 患者的年龄（死亡年龄，如果患者已经死亡）、性别和死因。从分析中排除了 2010 年或更早死亡的患者。
在 2020 年的调查中，共确定了 123 名在世患者。2011 年至 2020 年间，有 14 名 WS 患者死亡，平均年龄为 59.0±8.9 岁（平均值±标准差）。最常见的死因是非上皮性肿瘤，占 8 例死亡，没有患者死于动脉粥样硬化疾病。
与以前的研究相比，本研究表明 WS 患者的寿命已经延长。尽管没有死于动脉粥样硬化疾病的患者，但非上皮性肿瘤仍然是主要死因。需要进一步开发这些肿瘤的筛查和治疗方法。
