addisons cause symptom diagnosis treatment

Addison’s disease, or primary adrenal insufficiency, is a rare condition where the adrenal glands do not produce enough cortisol and aldosterone, hormones essential for regulating metabolism, immune function, and blood pressure. Named after physician Thomas Addison, the disease affects around 1 in 100,000 people annually, most commonly those aged 30 to 50.

The leading cause of Addison’s disease is autoimmune adrenalitis, where the immune system mistakenly attacks the adrenal glands. This form is often linked to other autoimmune conditions like Hashimoto’s thyroiditis and Type 1 diabetes. Infections such as tuberculosis, HIV, or fungal infections can also lead to adrenal insufficiency, particularly in developing countries. Other causes include genetic disorders, adrenal hemorrhage, and cancers that metastasize to the adrenal glands.

The disease develops slowly, with symptoms including chronic fatigue, muscle weakness, weight loss, and gastrointestinal issues such as nausea and vomiting. A distinctive sign is hyperpigmentation, darkening of the skin, especially in areas of friction, due to increased adrenocorticotropic hormone (ACTH) production. Low blood pressure, salt cravings, and electrolyte imbalances like low sodium (hyponatremia) and high potassium (hyperkalemia) are also common.

Diagnosis involves clinical evaluation and tests to measure cortisol, ACTH, and electrolytes, with the ACTH stimulation test being the gold standard for confirming adrenal insufficiency.

Treatment requires lifelong hormone replacement. Glucocorticoids like hydrocortisone replace cortisol, while fludrocortisone replaces aldosterone. In women, DHEA may be prescribed to improve mood and energy levels.

If untreated, Addison’s disease can lead to an adrenal crisis, a life-threatening emergency characterized by low blood pressure and severe dehydration. However, with proper management, individuals can lead healthy, normal lives.

1. Addison’s Disease Dr.Sunita Roy Dr.Suryansh Prateek

2. Adrenal Glands

3. Addisons disease Named after British physician Thomas Addison Addison’s disease is classified as a form of primary adrenal insufficiency. The term "primary" refers to the problem being localized within the adrenal glands themselves Addison's disease is relatively rare, with an incidence of approximately 1 in 100,000 people per year Most common in individuals aged 30–50 years.

4. Etiology Autoimmune (70–90% of cases) Autoimmune adrenalitis occurs when the immune system mistakenly targets the adrenal cortex. This autoimmune form is often associated with other autoimmune diseases, such as Hashimoto’s thyroiditis and Type 1 diabetes Infections: In developing countries, infections like tuberculosis, HIV, and fungal infections are significant causes of adrenal insufficiency. Genetic Disorders Adrenal Hemorrhage or Infarction: These can occur due to conditions like Waterhouse-Friderichsen syndrome, which is often linked to severe bacterial infections like meningococcemia. Other Causes: Adrenal metastasis from malignancies, amyloidosis, and sarcoidosis can also impair adrenal function.

5. Pathophysiology Damage to Adrenal Gland Autoimmune Infection Genetic Trauma Others Cortisol Deficiency Metabolism: Cortisol helps maintain glucose levels by promoting gluconeogenesis in the liver and inhibiting insulin, thus maintaining blood glucose during fasting. Inflammatory and Immune Response: Cortisol has immunosuppressive and anti-inflammatory properties, regulating immune system activity. Aldosterone Deficiency Sodium Reabsorption: Aldosterone promotes the reabsorption of sodium and water in the kidneys, maintaining blood volume and blood pressure. Potassium Excretion: It also facilitates the excretion of potassium, maintaining electrolyte balance.

6. Clinical Features Chronic Fatigue: Most common complaints, often worsened by physical exertion. Muscle Weakness: Due to a combination of hypoglycemia and metabolic disturbances. Weight Loss and Anorexia: Reduced appetite and unintentional weight loss are common. Hyperpigmentation: The skin often darkens, particularly in areas exposed to friction, due to increased production of melanocyte-stimulating hormone (MSH) as a byproduct of increased ACTH (adrenocorticotropic hormone). Hypotension: Low blood pressure, especially postural hypotension, is often present due to aldosterone deficiency. Salt Craving: This is a direct consequence of sodium loss in the urine. Abdominal Pain, Nausea, and Vomiting: These gastrointestinal symptoms may develop as the disease progresses. Hyponatremia and Hyperkalemia: Electrolyte disturbances are common, often leading to nonspecific symptoms such as dizziness, nausea, and arrhythmias.

7. Diagnosis Clinical features & History of autoimmune disorders or infections known to affect the adrenal glands. Screening Tests :- Serum Electrolytes: Hyponatremia (low sodium), hyperkalemia (high potassium), and hypoglycemia (low glucose) Cortisol Levels: Low morning cortisol levels (<5 µg/dL) are suggestive of adrenal insufficiency, especially in combination with elevated ACTH. ACTH (Cosyntropin) Stimulation Test: This is the Gold standard for diagnosing adrenal insufficiency.Synthetic ACTH is administered, and cortisol levels are measured before and after. A failure to appropriately elevate cortisol levels after stimulation suggests primary adrenal insufficiency.

8. Confirmatory Tests Plasma ACTH Levels: Elevated ACTH levels in the context of low cortisol levels confirm primary adrenal insufficiency. In secondary adrenal insufficiency (where the problem lies with the pituitary or hypothalamus), both ACTH and cortisol would be low. Renin and Aldosterone Levels: High plasma renin activity with low aldosterone levels indicates aldosterone deficiency, confirming primary adrenal insufficiency. Imaging - Adrenal CT or MRI Autoimmune Testing

9. Treatment Glucocorticoid Replacement - Hydrocortisone: The most commonly used glucocorticoid in replacement therapy, hydrocortisone is typically administered 2–3 times daily to mimic the natural diurnal rhythm of cortisol secretion. The typical daily dose ranges from 15 to 30 mg, with the largest dose given in the morning and smaller doses later in the day to simulate the body's normal cortisol production. Mineralocorticoid Replacement- Fludrocortisone: This is the synthetic form of aldosterone Androgen Replacement - Dehydroepiandrosterone (DHEA): In women with Addison’s disease, DHEA supplementation can improve mood, energy levels, and libido

10. Complications Complications of Addison's disease primarily arise from inadequate or excessive hormone replacement Adrenal Crisis: Occur if glucocorticoid doses are not adequately adjusted during periods of stress or illness. Osteoporosis: Long-term glucocorticoid therapy can lead to reduced bone density, especially if higher doses are required over time. Hypertension or Edema: These can occur with over-replacement of mineralocorticoids.

11. Adrenal Crisis An adrenal crisis (Addisonian crisis) is a life-threatening medical emergency that requires immediate intervention. It can occur during periods of severe physical stress, such as infection, surgery, or trauma, in individuals with Addison’s disease. The management of an adrenal crisis includes: Intravenous Hydrocortisone: High doses of hydrocortisone (100 mg intravenously) are given immediately, followed by continuous dosing (e.g., 100 mg every 6 hours). Fluid Resuscitation: Patients require intravenous saline (0.9% NaCl) to address hypotension and dehydration, often with dextrose to correct hypoglycemia. Correction of Electrolytes: Close monitoring and correction of hyperkalemia, hyponatremia, and hypoglycemia are critical.

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