Endocrine Abstracts

Context: Autoimmune polyendocrinopathy–candidiasis–ectodermal dystrophy (APECED) is an autoimmune endocrinopathy with severe and unpredictable course. Previous studies have reported increased mortality in patients with APECED. However, the impact of APECED on mortality has not been previously determined.

Objective: To systematically study overall and cause-specific mortality in patients with APECED. Design and Setting: A follow-up study of Finnish patients with APECED in 1971–2018. The clinical picture of the disease was studied from the patient records. Causes and dates of death were collected from Finnish registries using the Finnish personal identity codes as patient identifiers. Overall and cause-specific standardized mortality ratios (SMRs) were determined by comparing the observed numbers of death and those expected on the basis of respective population death rates in Finland.

Patients: Cohort of 91 Finnish patients with APECED. Main outcome measure SMR.

Results: Of all patients 29 (32%) had deceased during the follow-up period. The overall disease mortality was significantly increased [SMR 11; 95% confidence interval (CI) 7.2–16; P < 0.001]. Altogether 21 patients (72%) had deceased before 45 years of age. 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. No significant differences in SMR were found between subgroups of patients divided according to number of clinical manifestations or patients with or without hypoparathyroidism or adrenal insufficiency in the beginning of follow-up.

Conclusions: Patients with APECED have significantly increased mortality already at an early age and mortality is similarly increased in all age groups. Highest SMRs are found in causes that are directly related to APECED. In addition, our results suggest increased mortality due to previously unreported causes, such as infections. Increased alcohol- and accident-related deaths may be influenced by psychosocial factors.