Polyglanduläre autoimmune Syndrome

Abstract

Polyglandular autoimmune syndromes (PGAS), also known as autoimmune polyendocrinopathy syndromes (APS), are a heterogeneous group of rare, genetically caused diseases of the immune system which lead to inflammatory damage of various endocrine glands resulting in malfunctions. In addition, autoimmune diseases of non-endocrine organs may also be found. Early diagnosis of PGAS is often overlooked because of heterogeneous symptoms and the progressive occurrence of the individual diseases. The two most important forms of PGAS are the juvenile and adult types. The juvenile type (PGAS type 1) is caused by mutations in the autoimmune regulator (AIRE) gene on chromosome 21, exhibits geographic variations in incidence and is defined by the combination of mucocutaneous candidiasis, Addison's disease and hypoparathyroidism. In addition, autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) syndrome and other autoimmune diseases can also occur. The adult form of PGAS (PGAS type 2) is a multigenetic disorder associated with some HLA haplotypes, is more common than the juvenile type, shows female predominance and exhibits the combination of type 1 diabetes, autoimmune thyroid disease, Addison's disease and other autoimmune disorders. The histological alterations in affected organs of PGAS patients are similar to findings in sporadically occurring autoimmune diseases of these organs but there are no pathognomic fine tissue findings. If patients exhibit autoimmune changes in two different endocrine glands or if there are indications of several autoimmune disorders from the patient history, it is important to consider PGAS and inform the clinicians of this suspicion.

Educational Case: Adrenocortical insufficiency—Causes and pathogenesis

“…The presence of celiac disease in this patient suggests an autoimmune pathology that may affect multiple endocrine glands or may be a part of an autoimmune polyglandular syndrome (APS). 9 , 10 There may be associated autoimmune thyroiditis and hypothyroidism, especially in APS-2. 11 Additionally, increased TSH may occur in patients with autoimmune primary adrenocortical insufficiency (Addison disease) as the autoimmune pathology may affect multiple endocrine organs.…”

Unveiling the Significance of the ‘Bathtub’ Shape in Blood Glucose Curve Analysis

“…In terms of differential diagnosis, changes in insulin requirements and consequent additional blood glucose fluctuations must also consider conditions such as thyroid dysfunction (generally yielding slightly higher blood glucose levels), adrenal insufficiency (reduced insulin requirement, leading to hypoglycaemia primarily at night), or celiac disease (carbohydrate malabsorption). All these disorders occur within the context of a polyglandular autoimmune syndrome, with a lifetime prevalence of approximately 15-30%, more frequently observed in type 1 diabetes mellitus [16]. Throughout the years of care, these conditions were repeatedly ruled out in the patient's case.…”