Patients with APECED have increased early mortality due to endocrine causes, malignancies and infections

Abstract

Context: Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is anautoimmune endocrinopathy with severe and unpredictable course. The impact of APECED onmortality has not been determined.Objective: To assess overall and cause-specific mortality of patients with APECED.Design and Setting: A follow-up study of Finnish patients with APECED from 1971 to 2018.Causes and dates of death were collected from Finnish registries.Patients: Ninety-one patients with APECED.Main Outcome Measure: Overall and cause-specific standardized mortality ratios (SMRs)determined by comparing the observed numbers of death and those expected on the basis ofrespective population death rates in Finland.Results: The overall disease mortality was significantly increased (29 deaths, SMR 11; 95% confidenceinterval [CI] 7.2-16; P < 0.001). The relative risk (SMR) was highest in the youngest age groups but theabsolute excess risk was similar (about 10 per 10 000 person-years) in all age categories. The highestSMRs were seen for endocrine and metabolic diseases (SMR 570; 95% CI, 270-1000; P < 0.001) and fororal and esophageal malignancies (SMR 170; 95% CI, 68-360; P < 0.001). Mortality was also increasedfor infections, diseases of digestive system, alcohol-related deaths, and for accidents. Due to the smallnumber of cases we were unable to evaluate whether mortality was affected by disease severity.Conclusions: 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.