Endocrine Abstracts

Introduction: The autoimmune polyglandular syndrome is a complex, heterogeneous disease in which autoimmune diseases of endocrine and non-endocrine organs can occur. There are 4 subgroups: the early-onset APS I develops due to the mutation of the gene AIRE and characterized by the presence of Addison’s disease (AD), mucocutan candidiasis and hypoparathyroidism; the APS II is defined by the appearance of AD and autoimmune thyroid diseases (AITDs) and/or diabetes mellitus; in APS III the patients have AITDs and any other kind of autoimmune manifestations except AD, while APS IV consists of patients who could not be included in the previous 3 groups. The aim of this research was to characterize APS patients treated in our Department.

Patients and method: During the searching, 132 APS cases were identified in our database of 1762 patients (7.5% of this population) with autoimmune diseases.

Results: Of the affected individuals, 15 and 117 were male and female patient, respectively. Only 1 patient belonged to the APS I, while 25 to the APS II, 91 to the APS III and 15 to the APS IV subgroups. The average age at the diagnosis was 36.8 year in APS II, 32.9 year in APS III, and 37.9 year in APS IV. Seven different autoimmune manifestations affected endocrine organs; furthermore, 10 non-endocrine organ specific autoimmune disorders and six systemic autoimmune diseases were detected. APS was most common in the group of patients with Addison’s disease (29%). AITDs were combined with other autoimmune manifestations in 10%. The first diagnosed autoimmune diseases were AITDs in 28%, AD in 14% and diabetes mellitus in 14%. Ninety-six cases with two, 28 with three, 7 with four and 1 with five autoimmune manifestations were found.

Conclusions: APS is not uncommon in patients with various forms of autoimmune diseases and may occur in one-third of patients with AD. The development of relevant diagnostic and screening protocols to identify these patients timely is warranted.

Keywords: autoimmune polyglandular syndrome, APS, Addison’s disease, autoimmune thyroid disease, type I. diabetes mellitus