Whitaker's (MAE1), Schmidt's (MAE2) and IPEX syndrome
Multiple autoimmune endocrinopathy syndromes represent a heterogeneous group of disorders characterized by the existence of two or more autoimmune diseases of the endocrine glands with the possibility of other autoimmune diseases of non-endocrine organs, such as vitiligo, chronic autoimmune inflammation of the liver, Sjögren's syndrome, autoimmune inflammation of the skin and muscles (dermatomyositis/polymyositis), rheumatoid arthritis, scleroderma, systemic lupus erythematosus and a special form of anemia such as pernicious anemia. The diagnosis is established by a standard clinical algorithm that includes a specialist medical examination, various hormonal and endocrinological tests, evidence of specific autoantibodies, radiological imaging and nuclear medicine diagnostics (CT, MR). Treatment is based on the use of hormone replacement therapy in addition to other medical and instrumental treatment measures.
Division of syndromes
- • MAE1 syndrome (Whitaker's syndrome) is inherited in an autosomal-recessive manner and is caused by a defect in the AIRE gene, which functions as an autoimmune regulator. The clinical picture is dominated by decreased function of the adrenal cortex (Addison's disease), parathyroid glands (hypoparathyroidism), testicles and ovaries (hypogonadism), hair loss (alopecia), vitiligo and a special form of anemia (pernicious anemia).
- • MAE2 syndrome (Schmidt's syndrome) is the most common form of autoimmune endocrinopathy. Inheritance is autosomal-dominant with variable penetrance, it is not related to a specific gene profile, but it is more frequent in carriers of the HLA-DR3 and HLA-DR4 genotypes. The clinical picture is characterized by a combination of reduced function of the adrenal cortex (Addison's disease) with an autoimmune thyroid disorder (Hashimoto's disease or Graves' disease) and/or Type 1 diabetes. The syndrome is often accompanied by reduced ovarian and testicular function (hypogonadism), pituitary gland (hypopituitarism) and parathyroid glands (hypoparathyroidism).
- • IPEX syndrome (X-linked immunodysregulation polyendocrinopathy - enteropathy) occurs as a result of disturbed function of the transcription factor FOXP3 responsible for regulating the immune function of inflammatory cells (T-lymphocytes). It is inherited via X-chromosome and presents with various autoimmune disorders of the endocrine glands, intestinal function disorders and skin disorders.