Description
Autoimmune Addison disease affects the function of the adrenal glands, which are small hormone-producing glands located on top of each kidney. It is classified as an autoimmune disorder because it results from a malfunctioning immune system that attacks the adrenal glands. As a result, the production of several hormones is disrupted, which affects many body systems.
Summary Listen
- The presentation focuses on primary adrenal insufficiency (Addison's disease), highlighted by a case study of a 45-year-old woman presenting with hypertension, vomiting, nausea, significant weight loss, and fatigue. The case emphasizes the importance of recognizing the condition, particularly when hypothyroidism is also present, due to the risk of precipitating adrenal crisis if thyroxine is started before cortisol replacement.
- The presentation includes an overview of endocrine glands' anatomy and physiology, focusing on the adrenal glands. It describes the hormones produced by the adrenal cortex, emphasizing the roles of glucocorticoids (cortisol), mineralocorticoids (aldosterone), and androgens. Cholesterol is highlighted as the main fuel for hormone production in the adrenal gland, with key enzymes like 21-hydroxylase playing a role in the synthesis pathways.
- Etiologies of primary adrenal insufficiency are explored, categorized as autoimmune conditions, malignancies, infiltrative diseases, infections, vascular events, genetic disorders, and iatrogenic causes. Autoimmune causes are common in the developed world, while tuberculosis is a more significant factor in sub-Saharan Africa. The presentation also stresses the growing importance of checkpoint inhibitors as a cause due to their increasing use in cancer treatment.
- Clinical features of primary adrenal insufficiency include gastrointestinal symptoms, dizziness, weight loss, skin pigmentation, and postural hypotension. Gastrointestinal symptoms, particularly nausea and vomiting, are frequently reported. Hyperpigmentation, weight loss, and fatigue are also common presenting symptoms.
- The presentation covers related syndromes associated with primary adrenal insufficiency, specifically autoimmune polyglandular syndromes (APS). It discusses APS-1, characterized by mucocutaneous candidiasis, hypoparathyroidism, and Addison's disease. APS-2 involves Addison's disease, autoimmune thyroid disease, and type 1 diabetes. The AIRI gene mutation, which affects immune regulation, is highlighted as the primary defect in the etiology of these autoimmune conditions.
- Diagnostic approaches for primary adrenal insufficiency include cortisol and ACTH measurements, adrenal antibody testing, and CT scans of the adrenal glands. The presenter advocates for considering a CT scan alongside antibody testing for efficiency. Therapeutic management involves hormone replacement with hydrocortisone and addressing underlying causes. Education about sick day rules, proper monitoring during pregnancy and surgery, and accessible hospital protocols are crucial.
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