Introduction: Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is a rare autosomal recessive disease that is characterized by a combination of various endocrinopathies and other autoimmune disease components. Few longitudinal studies have shown a decreased life expectancy in APECED. However, knowledge on mortality and causes of death in patients with APECED is scarce.
Objective: Our aim was to describe the mortality and causes of death among Finnish APECED patients and to describe the lifetime incidence of severe infections.
Patients: The study included the cohort of patients originally described by Perheentupa and patients identified by contacting pediatric endocrine departments. Causes of death were collected from Statistics Finland. Patient records were reviewed for the clinical course of the disease and the incidence of infections requiring hospital treatment. To compare the incidence of infections in the surviving patients, we compared data with that of 44 patients with APECED who had participated our cohort study on bone health during 2015-2016.
Results: Altogether 97 Finnish patients with APECED were identified. In total, 33 of the patients had deceased during 1967-2018. Median age at death was 36 years (range 10.9 62.9). Causes of death were reported for 29 cases. The most common immediate cause of death was infection (n=7, 24%). Other common immediate causes of death included APECED (5), accidents (4) and cardiovascular events (4). Median age at death among those deceased with infection as the immediate cause of death was 23 years whereas for patients who had another cause of death the median age of death was 43 years (P=0.088). The most common infection as a cause of death was pneumonia (3 deaths). Other infections as causes of death included meningitis, septic infection, upper respiratory tract infection and myocarditis. When we compared the deceased patients with the surviving cohort of patients, the age [median 37.8 years (range 7.0-70.1)] and the number of disease components [median 6 components (2-10) vs. 6 (1-10)] did not differ between the groups. Altogether 73% of deceased patients had had severe infections in comparison to 68% of living patients. The median number of severe infections did not differ significantly between deceased and living patients [median 2 infections (0-13) vs. 1 (0-8), P=0.136].
Conclusion: Patients with APECED have a significantly increased risk of dying younger than average population. The most common immediate causes of death are infections, fatal accidents, cardiovascular events and APECED itself. Severe infections are common among all APECED patients.
19 - 21 Sep 2019
European Society for Paediatric Endocrinology