The increased mortality rate in patients with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is mostly related to endocrine and metabolic diseases, infections, and oral and esophageal malignancies, according to study results published in The Journal of Clinical Endocrinology & Metabolism.

The presentation of APECED is highly variable and the disease course is unpredictable. In a systematic study of patients recruited to the Finnish APECED cohort, investigators aimed to characterize cause-specific mortality rates in patients with APECED compared with those in the general population.

A total of 91 patients with APECED (50.5% women) were included in the study. Overall and cause-specific standardized mortality ratios (SMRs) were calculated by comparing the observed mortality rate among the APECED cohort with the expected frequency based on the Finnish population.

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The overall mortality over the course of follow-up was significantly higher than expected (SMR, 8.5; 95% CI, 5.7-12.0; P <.001); 25 individuals died due to diseases (SMR, 11; 95% CI, 7.2-16.0; P <.001) and 4 due to accidents (SMR, 7.2; 95% CI, 2.0-18; P <.05). The increased mortality risk was most prominent in the younger age group (<45 years of age). The cumulative mortality rate in patients <60 years of age was >80% in the APECED cohort compared with <10% in the general population.

The increase in mortality risk was highest for endocrine and metabolic disease other than diabetes (SMR, 570; 95% CI, 270-1000; P <.001) and oral and esophageal malignancies (SMR, 170; 95% CI, 69-360; P <.001). Mortality rates for malignant neoplasms, digestive system diseases, infectious diseases, alcohol-related deaths, and accidents were also elevated.

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The researchers noted that the small size of the study population limited the power of the analyses performed. In addition, the investigators were unable to evaluate whether mortality risk was affected by disease severity.

“[O]ur study shows that overall mortality and mortality from APECED related causes in all ages are significantly increased compared to the Finnish population,” the study authors concluded. “These results emphasize the importance of careful monitoring of the patients with special focus on endocrine manifestations, development of oral neoplasms, infections as well as psychosocial factors.”

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Borchers J, Pukkala E, Mäkitie O, Laakso S. Patients with APECED have increased early mortality due to endocrine causes, malignancies and infections [published online March 18, 2020]. J Clin Endocrinol Metab. doi: 10.1210/clinem/dgaa140