Autoimmune polyglandular syndromes

Abstract

Autoimmune polyendocrine syndromes (APS) are a group of syndromes characterized by autoimmune damage of two or more endocrine glands, leading most often to their hypofunction. Often these syndromes are combined with various organ-specific non-endocrine diseases of an autoimmune nature. Currently, 4 types of APS are distinguished: APS 1, APS 2, APS 3, APS 4. APS 1 is a monogenic autosomal recessive disease based on a violation of the structure of the AIRE gene. The classic signs of APS 1 are: chronic candidiasis of the skin and mucous membranes, primary hypoparathyroidism and autoimmune primary chronic adrenal insufficiency. Moreover, clinical features of APS 1 can include primary hypogonadism, primary hypothyroidism with a history of autoimmune thyroiditis and type 1 diabetes. Among non-endocrine pathology, other autoimmune diseases may occur during patient’s life: alopecia, vitiligo, pernicious anemia, malabsorption syndrome, autoimmune hepatitis, enamel abnormality, ectodermal dysplasia, isolated IgA deficiency, bronchial asthma, glomerulonephritis. APS 2 is a multifactorial pathology caused by mutation of genes and the influence of the environment. Two of the most common clinical options of type 2 APS are identified: Schmidt – chronic primary adrenal insufficiency in combination with chronic autoimmune thyroiditis or Graves disease and Carpenter – chronic adrenal insufficiency syndrome in combination with type 1 diabetes. APS 3 and 4 differ from APS 2 only in combinations of components – endocrine and non-endocrine diseases. They lack chronic primary adrenal insufficiency and chronic primary hypoparathyroidism. In addition, rare genetic pathologies occurring with polyglandular syndrome are known, such as Kearns-Seir syndrome, IPEX syndrome, POEMS syndrome, Tungsten syndrome, etc. Diagnosis of APS is difficult due to the variety of clinical symptoms and the difficulty of differential diagnosis. APS is characterized by the incorporation of new autoimmune components during long period of time, which makes it difficult to diagnose a variant of the syndrome. If the autoimmune damage of an endocrine gland appears, other components of APS should be excluded at the latent stage. Currently, there are no effective methods to block auto-aggression. Therapy of numerous endocrine and non-endocrine dysfunctions in APS consists of the treatment of particular components of the syndrome.

Keywords

• autoimmune polyglandular syndromes, aps 1, aps 2, aps 3, aps 4
• kearns – sayre syndrome
• ipex syndrome
• poems syndrome
• wolfram syndrome