Buckman Michelle A, Vasileva Anastasiia, Jedlicka Charles R, Kalra Hardik, Vasilyev Mikhail, Dickens David S, Tomasson Michael H, Bates Melissa L
Department of Internal Medicine, University of Iowa, Iowa City, IA, USA.
Department of Health and Human Physiology, University of Iowa, Iowa City, IA, USA.
Compr Physiol. 2025 Oct;15(5):e70037. doi: 10.1002/cph4.70037.
The median life expectancy of people with Down syndrome has increased substantially over the past several decades, from 4 years in 1970 to 53 years in 2010. Despite the recent improvement in survival, there is little data about the prevalence of age-related diseases, including age-related malignancies, and the impact of standard cancer treatments on cardiovascular health. We retrospectively reviewed medical records for age- and sex-matched patients ≥ 15 years old with and without Down syndrome using the TriNetX platform to identify the prevalence of malignancies and explore cardiovascular outcomes after treatment with anthracyclines. We further stratified the populations into adolescent and young adult (AYA, ages 15-39 years old) and adult (≥ 40 years old) cohorts, given that treatment recommendations can be different. Down syndrome patients in the AYA cohort were more likely to be diagnosed with acute myeloid leukemia (OR 8.9, CI 4.99-15.89, p < 0.001) and lymphoid leukemia (OR 7.33, CI 4.82-11.15, p < 0.001) The adult cohort with Down syndrome was more likely to be diagnosed with myelodysplastic syndromes (OR 12.25, CI 6.41-23.42, p < 0.001), multiple myeloma (OR 1.66, CI 1.06-2.6, p = 0.026), and testicular cancer (OR 2.73, CI 1.32-5.65, p = 0.005). Overall, Down syndrome patients (≥ 15 years old) treated with anthracyclines were more likely to be diagnosed with heart failure (OR 2.14, CI 1.07-4.27, p = 0.042). Our study demonstrates adolescents and adults with down syndrome have a higher predisposition to several malignancies and an increased risk of cardiovascular disease after anthracycline treatment and may require specific screening guidelines to address their unique health risks.
在过去几十年中，唐氏综合征患者的中位预期寿命大幅增加，从1970年的4岁增至2010年的53岁。尽管近期生存率有所提高，但关于与年龄相关疾病的患病率，包括与年龄相关的恶性肿瘤，以及标准癌症治疗对心血管健康的影响的数据却很少。我们使用TriNetX平台，对年龄和性别匹配的15岁及以上患有和未患有唐氏综合征的患者的病历进行回顾性审查，以确定恶性肿瘤的患病率，并探讨蒽环类药物治疗后的心血管结局。鉴于治疗建议可能不同，我们进一步将人群分为青少年和青年成人（AYA，15至39岁）和成人（≥40岁）队列。AYA队列中的唐氏综合征患者更有可能被诊断为急性髓系白血病（OR 8.9，CI 4.99 - 15.89，p < 0.001）和淋巴细胞白血病（OR 7.33，CI 4.82 - 11.15，p < 0.001）。患有唐氏综合征的成人队列更有可能被诊断为骨髓增生异常综合征（OR 12.25，CI 6.41 - 23.42，p < 0.001）、多发性骨髓瘤（OR 1.66，CI 1.06 - 2.6，p = 0.026）和睾丸癌（OR 2.73，CI 1.32 - 5.65，p = 0.005）。总体而言，接受蒽环类药物治疗的唐氏综合征患者（≥15岁）更有可能被诊断为心力衰竭（OR 2.14，CI 1.07 - 4.27，p = 0.042）。我们的研究表明，患有唐氏综合征的青少年和成人更容易患几种恶性肿瘤，并且在接受蒽环类药物治疗后心血管疾病风险增加，可能需要特定的筛查指南来应对他们独特的健康风险。
