Borchers Joonatan, Pukkala Eero, Mäkitie Outi, Laakso Saila
Children's Hospital, Pediatric Research Center, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.
Folkhälsan Research Center, Helsinki, Finland.
J Clin Endocrinol Metab. 2020 Jun 1;105(6):e2207-13. doi: 10.1210/clinem/dgaa140.
Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is an autoimmune endocrinopathy with severe and unpredictable course. The impact of APECED on mortality has not been determined.
To assess overall and cause-specific mortality of patients with APECED.
A follow-up study of Finnish patients with APECED from 1971 to 2018. Causes and dates of death were collected from Finnish registries.
Ninety-one patients with APECED.
Overall and cause-specific standardized mortality ratios (SMRs) determined by comparing the observed numbers of death and those expected on the basis of respective population death rates in Finland.
The overall disease mortality was significantly increased (29 deaths, SMR 11; 95% confidence interval [CI] 7.2-16; P < 0.001). The relative risk (SMR) was highest in the youngest age groups but the absolute excess risk was similar (about 10 per 10 000 person-years) in all age categories. The highest SMRs were seen for endocrine and metabolic diseases (SMR 570; 95% CI, 270-1000; P < 0.001) and for oral and esophageal malignancies (SMR 170; 95% CI, 68-360; P < 0.001). Mortality was also increased for infections, diseases of digestive system, alcohol-related deaths, and for accidents. Due to the small number of cases we were unable to evaluate whether mortality was affected by disease severity.
Patients with APECED have significantly increased mortality in all age groups. Highest SMRs are found for causes that are directly related to APECED but also for infections. Increased alcohol- and accident-related deaths may be influenced by psychosocial factors.
自身免疫性多内分泌腺病-念珠菌病-外胚层营养不良（APECED）是一种自身免疫性内分泌疾病，病程严重且不可预测。APECED对死亡率的影响尚未确定。
评估APECED患者的全因死亡率和死因特异性死亡率。
对1971年至2018年芬兰APECED患者进行随访研究。从芬兰登记处收集死亡原因和日期。
91例APECED患者。
通过比较观察到的死亡人数与根据芬兰相应人群死亡率预期的死亡人数，确定全因和死因特异性标准化死亡率（SMR）。
总体疾病死亡率显著增加（29例死亡，SMR为11；95%置信区间[CI]为7.2-16；P<0.001）。相对风险（SMR）在最年轻年龄组中最高，但所有年龄组的绝对超额风险相似（每10000人年约10例）。内分泌和代谢疾病（SMR为570；95%CI为270-1000；P<0.001）以及口腔和食管恶性肿瘤（SMR为170；95%CI为68-360；P<0.001）的SMR最高。感染、消化系统疾病、酒精相关死亡和事故导致的死亡率也有所增加。由于病例数量较少，我们无法评估死亡率是否受疾病严重程度影响。
APECED患者在所有年龄组中的死亡率均显著增加。与APECED直接相关的病因以及感染的SMR最高。酒精和事故相关死亡人数增加可能受社会心理因素影响。
