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. The signs and symptoms of autoimmune Addison disease can begin at any time, although they most commonly begin between ages 30 and 50. Common features of this condition include extreme tiredness (fatigue), nausea, decreased appetite, and weight loss. In addition, many affected individuals have low blood pressure (hypotension), which can lead to dizziness when standing up quickly; muscle cramps; and a craving for salty foods. A characteristic feature of autoimmune Addison disease is abnormally dark areas of skin (hyperpigmentation), especially in regions that experience a lot of friction, such as the armpits, elbows, knuckles, and palm creases. The lips and the inside lining of the mouth can also be unusually dark. Because of an imbalance of hormones involved in development of sexual characteristics, women with this condition may lose their underarm and pubic hair.
Summary Listen
- A 45-year-old woman presented with hypertension, vomiting, nausea, significant weight loss (14 kg in 12 months), and extreme fatigue requiring wheelchair assistance. Her past history included hypothyroidism (treated and stopped), childbirth-related interventions, hernia repair, abdominoplasty, and cholecystectomy.
- Initial investigations revealed anemia, a markedly elevated TSH (77.99), low sodium (121), and low bicarbonate (15), indicative of metabolic acidosis. Cortisol samples were sent due to a high suspicion of adrenal insufficiency, leading to a consultation with an endocrinologist.
- Physical examination revealed dark skin discoloration, particularly in the palmar creases. Further tests ordered included cortisol, ACTH, thyroid antibodies, adrenal antibodies, TTG estimation, ESR, HIV serology, urine osmolality, electrolytes, and a CT abdomen.
- Cortisol levels were extremely low, and urinary sodium was high. Thyroid peroxidase (TPO) antibody was significantly elevated (>600), while TTA antibody was negative. The CT abdomen showed no structural changes in the right adrenal gland, with the left adrenal gland not fully visualized.
- Later, ACTH levels were found to be very high (963), confirming severely depressed adrenal gland pathology. Adrenal cortex antibodies were also elevated (1 in 320). The patient was started on hydrocortisone, followed by thyroxine, and discharged with follow-up plans.
- Primary adrenal insufficiency can result from autoimmune disorders, malignancies, infiltrative diseases (like amyloidosis or hemochromatosis), infections (like tuberculosis, fungal infections, or HIV), vascular issues, infarction, congenital adrenal hyperplasia, or iatrogenic causes. Studies from the Middle East and North Africa (MENA) region show autoimmune conditions as the main cause, while tuberculosis is more prevalent in Africa.
- Common presenting features of primary adrenal insufficiency include gastrointestinal symptoms (nausea, vomiting, diarrhea, abdominal pain, anorexia), dizziness, weight loss, salt craving, skin pigmentation, and adrenal crisis. Hyperpigmentation is a key diagnostic sign, and can be present on the gums, buccal mucosa, pressure points, and skin folds.
- Autoimmune conditions affecting multiple endocrine glands (Autoimmune Polyglandular Syndromes or APS) can occur. APS-1 is characterized by mucocutaneous candidiasis, hypoparathyroidism, and Addison's disease, while APS-2 involves adrenal insufficiency, autoimmune thyroid disease, and type 1 diabetes.
- The autoimmune regulator gene (AIRE) mutation is implicated in the development of APS, leading to faulty recognition of tissue-specific antigens and auto-reactive T-cells. Checkpoint inhibitors used in cancer treatment can also induce autoimmune conditions, including adrenal insufficiency.
- Diagnosis involves measuring cortisol and ACTH levels. If primary adrenal insufficiency is suspected, adrenal cortex antibodies and a CT scan of the adrenals are recommended. Treatment involves hormone replacement therapy with hydrocortisone, IV fluids, and IV hydrocortisone during adrenal crises.
Sample Certificate
About the Speakers
Comments
Comments
You must be logged in to leave a comment.