Children's Hospital, Pediatric Research Center, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.
Folkhälsan Research Center, Helsinki, Finland.
Eur J Endocrinol. 2021 Oct 8;185(5):K13-K17. doi: 10.1530/EJE-21-0241.
Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) has variable clinical course. Overall mortality is increased but reasons for this remain largely unknown. Our objective was to assess the causes of death and factors contributing to increased mortality.
A follow-up study of the Finnish APECED cohort in 1970-2019.
In 33 deceased patients with APECED, causes of death and clinical course preceding the death were analyzed using national registry data, death certificates, autopsy reports, and patient records.
Most common causes leading to death were infections (24%), oral and esophageal malignancies (15%; median age at death 36.7 years; median survival 1.5 years), and diseases of the circulatory system (18%). Adrenal crisis was an independent cause of death in two patients. In addition, in four patients, the adrenal crisis was a complicating factor during a fatal infection. Other APECED manifestations leading to death were hypoparathyroidism, diabetes, and hepatitis. Other causes of death included accidents (12%), alcohol-related causes, and amyotrophic lateral sclerosis. Challenges in overall, and especially in the endocrine, care contributed to deaths related to carcinomas and adrenal crisis. Age at death and year of death correlated (r = 0.345, P = 0.045), suggesting improved longevity.
Infections, malignancies, and diseases of the circulatory system are the most common primary causes of death in patients with APECED. Adrenal crisis is an independent cause of death but more often a contributing factor in fatal infections. Despite the high overall mortality and the demanding care, our results suggest improved patient survival in recent years.
自身免疫性多内分泌腺病-念珠菌病-外胚层营养不良（APECED）具有多变的临床病程。总体死亡率增加，但造成这种情况的原因在很大程度上仍不清楚。我们的目的是评估死亡原因和导致死亡率增加的因素。
对芬兰 APECED 队列在 1970-2019 年的随访研究。
对 33 例 APECED 死亡患者，通过国家登记数据、死亡证明、尸检报告和病历分析死亡原因和死亡前的临床病程。
导致死亡的最常见原因是感染（24%）、口腔和食管恶性肿瘤（15%；死亡时的中位年龄为 36.7 岁；中位生存期为 1.5 年）和循环系统疾病（18%）。肾上腺危象是两名患者死亡的独立原因。此外，在四名患者中，肾上腺危象是致命感染的并发症。导致其他 APECED 表现死亡的原因包括甲状旁腺功能减退症、糖尿病和肝炎。其他死亡原因包括意外事故（12%）、酒精相关原因和肌萎缩侧索硬化症。总体护理，尤其是内分泌护理方面的挑战，导致了与癌症和肾上腺危象相关的死亡。死亡年龄和死亡年份相关（r = 0.345，P = 0.045），提示患者的寿命有所延长。
在 APECED 患者中，感染、恶性肿瘤和循环系统疾病是最常见的主要死亡原因。肾上腺危象是死亡的独立原因，但更多情况下是致命感染的促成因素。尽管总体死亡率较高，护理需求较高，但我们的结果表明近年来患者的生存率有所提高。
