The need to search for primary adrenal insufficiency in the presence of autoimmune pathology

Certain autoimmune diseases (AIDs) are grouped into autoimmune polyglandular syndromes (APS), characterized by pathological reactivity of T and B lymphocytes to the body’s own normal components. These include both the monogenic APS type 1, caused by an AIRE gene mutation with an autosomal recessive inheritance pattern, and the polygenic APS types 2, 3, and 4, which follow an autosomal dominant pattern. The most prevalent combination is primary adrenal insufficiency (PAI), autoimmune thyroiditis (AIT) or Graves’ disease, and type 1 diabetes mellitus, constituting APS-2. Consequently, a diagnosis of one AID increases the risk of developing others. Therefore, patients with an established AID require targeted screening for other syndrome components, particularly for life-threatening conditions like PAI. The highly variable initial clinical presentations, coupled with insufficient awareness of PAI among physicians, often lead to delayed diagnosis of this critical condition. The presented clinical case illustrates a prolonged development of various autoimmune pathologies, involving multiple medical specialists, culminating in the diagnosis of PAI during an Addisonian crisis. A key aspect of managing such patients is educating them about early signs of adrenal insufficiency, such as severe weakness and hypotension. The treatment and follow-up are detailed in accordance with the latest clinical guidelines. The report underscores the critical importance of interdisciplinary collaboration and adherence to modern screening recommendations to prevent life-threatening complications.

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