What is it?
Autoimmune polyendocrinopathies (from English autoimmune polyglandular syndromes or APS) are a heterogeneous group of diseases characterized by a combination of multiple autoimmune manifestations that affect both the endocrine system and other organs. The clinical manifestations of these syndromes differ significantly, therefore, their classification solely on a phenotypic basis is often difficult, and sometimes even reductive.
Traditionally, there are four main types of autoimmune polyendocrinopathies:
- APS-1 or APECED: this is the only form with known genetic etiology, which is a monogenic disease with autosomal recessive inheritance, the main clinical signs of which are hypoparathyroidism, chronic mucocutaneous candidiasis and Addison's disease;
- APS-2, characterized by a combination of Addison's disease, autoimmune thyroiditis and / or type 1 diabetes mellitus;
- APS-3, corresponding to autoimmune thyroiditis and other manifestations of autoimmune etiology, with the exception of Addison's disease and hypoparathyroidism;
- APS-4, the diagnosis of which is based on the exclusion of the previous three forms. Other common manifestations include celiac disease, pernicious anemia, vitiligo, alopecia, autoimmune gastritis, and autoimmune hepatitis.
The etiopathogenesis of these diseases is still being studied from an endocrinological, immunological and genetic point of view. A great contribution to the understanding of these diseases was certainly made by the discovery of the AIRE gene, responsible for APS-1 or APECED. The mutation of this gene causes an alteration of the immune system's ability to discriminate between self and non-self, resulting in the development of multiple autoimmune manifestations. At the base of the other forms of polyendocrinopathies there is most likely a multifactorial etiology, in which both genetic factors not yet identified and environmental factors play an important role.
How is it diagnosed?
Diagnosis of autoimmune polyendocrinopathies corresponds to the diagnosis of individual manifestations that characterize them, and includes an assessment of the hormonal structure and function of the organ, as well as the determination of organ-specific autoantibodies, one of the main elements that can contribute to the development of the observed autoimmune pathologies. Given the multiplicity of manifestations that may be associated and the potential for onset over time, a complete screening of all autoimmune diseases that are most often associated with each other is necessary, together with periodic follow-up to ensure early diagnosis and adequate therapy.
How is it treated?
Therapy implies the correct treatment of individual manifestations (for example, hormone replacement therapy), the adequate treatment of which affects the prognosis and quality of life of patients.
Where do we treat it?
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