Endocrine Abstracts

JOINT172

Autoimmune polyglandular syndrome (APS) is a complex disorder in which endocrine, non-endocrine organ-specific and systemic autoimmune diseases coincide. The purpose of our work was to provide a data-driven perspective to the field, in addition to traditional clinical observations and patient classification strategies. Our study was conducted in a tertiary medical center in Hungary. Medical records of 7559 outpatients were analyzed, autoimmune origin was proved in 3180 cases of which 380 (12%) were diagnosed with APS. Data handling and manipulation were done both in Python and R. Network analysis, clustering and dimensionality reduction were used for visualization purposes. The median age of the patients at the diagnosis of APS was 32 years, with 84% of them being female. APS started 7 to 8 years earlier in men than in women. Type 1 diabetes mellitus and coeliac disease manifested significantly earlier than other component diseases of APS. Hashimoto’s thyroiditis was the most common manifestation in our cohort, accounting for 67.4% of individuals, followed by Graves’ disease and type 1 diabetes mellitus (26, 8% and 20, 8% of the cases, respectively). Twenty-eight distinct autoimmune disorders were diagnosed forming 113 combinations. Combinations occurring at least 10 times, or more were responsible for 51, 3% of cases. The network analysis and the dimensionally reduced projection mapping differentiated HT and GD as the cornerstones of APS among the component diseases. However, an almost complete overlap of the associated conditions was found. Thyroid autoimmunity was frequently associated with gastrointestinal and systemic manifestations and these patterns of associated conditions substantially differed from that of T1D, AD or CeD when assessing them as first manifestations, raising the question of a common biological causality behind the co-occurrence. In conclusion, APS is more prevalent than it is shown in the literature. Implementing screening and follow-up protocols focusing on additional autoimmune disorders is crucial in patients with autoimmune diseases. Clinical registries are also essential for the assessment of the true prevalence of the syndrome.