What is the difference between Addison's disease and Marian disease?

Difference Between Addison's Disease and Marian Disease

Addison's disease is a form of primary adrenal insufficiency characterized by lack of glucocorticoid and mineralocorticoid hormones produced in the adrenal cortex, while there is no recognized medical condition called "Marian disease" in current medical literature. 1

Addison's Disease (Primary Adrenal Insufficiency)

Definition and Pathophysiology

• Addison's disease is defined as chronic glucocorticoid and/or mineralocorticoid deficiency due to failure of the adrenal cortex, which can lead to potentially life-threatening adrenal crisis 2
• The condition results from destruction of the adrenal cortex, leading to insufficient production of cortisol and aldosterone 1

Etiology

• In Western Europe, autoimmunity accounts for approximately 85% of cases, characterized by the presence of 21-hydroxylase autoantibodies (21OH-Ab) 1, 3
• Other causes include tuberculosis, adrenal hemorrhage, and various genetic disorders 1
• Approximately half of patients with Addison's disease have other co-existing autoimmune diseases, such as thyroid disease, autoimmune gastritis, type 1 diabetes, premature ovarian insufficiency, vitiligo, and celiac disease 1

Clinical Presentation

• Common symptoms include fatigue, general malaise, anorexia, and weight loss 4
• Laboratory findings typically show:
  • Hyponatremia (present in 90% of newly diagnosed cases) 3
  • Hyperkalemia (in approximately 50% of patients) 3
  • Low cortisol with elevated ACTH levels 3
• Physical examination often reveals hyperpigmentation of skin and mucosal surfaces, as well as hypotension 4

Diagnosis

• Diagnosis requires measurement of serum cortisol and ACTH levels 3
• Confirmation is done with cosyntropin stimulation testing when necessary 3
• A normal response requires cortisol to exceed 550 nmol/L at either 30 or 60 minutes after administration of 0.25 mg cosyntropin 1, 3
• Etiologic diagnosis involves testing for 21-hydroxylase autoantibodies to establish an autoimmune cause 3

Treatment

• Lifelong glucocorticoid and mineralocorticoid replacement therapy is necessary 5
• Most patients require 15-25 mg of hydrocortisone daily in split doses 1
• Fludrocortisone (50-200 μg) is typically administered as a single daily dose 1
• Patient education is crucial for preventing and managing adrenal crises 2

Prognosis

• With proper treatment, patients can resume normal daily activities with a highly functional status 4
• However, mortality remains increased compared to the general population despite treatment 2
• Health-related quality of life is often reduced 2

Important Clinical Considerations

• If adrenal crisis is suspected, immediate treatment with intravenous hydrocortisone and isotonic saline should never be delayed for diagnostic testing 1, 3
• Annual monitoring should include electrolytes, thyroid function, glucose levels, and screening for other autoimmune conditions 3
• Patients require education about stress dosing and emergency management to prevent life-threatening adrenal crises 3, 2

Common Pitfalls

• Delayed diagnosis is common due to the rarity of Addison's disease and its non-specific symptoms in early stages 2
• Exogenous steroid use can confound interpretation of cortisol levels during diagnostic workup 3
• Failure to screen for other autoimmune conditions can lead to missed diagnoses of associated disorders 3