Autoimmune Polyendocrine Syndrome Type 2 (APS2)

Autoimmune Polyendocrine Syndrome Type 2 (APS-2) is a chronic autoimmune disorder in which the immune system attacks multiple endocrine glands, especially the adrenal glands, thyroid gland, and pancreas. It most often includes Addison's disease (adrenal insufficiency), autoimmune thyroid disease (like Hashimoto's or Graves'), and Type 1 diabetes. Unlike APS-1, APS-2 is more common, usually develops in adulthood, and is not linked to a single gene mutation.

Fatigue, dizziness, salt craving (Addison's); Weight gain, cold intolerance, constipation (hypothyroidism); Weight loss, thirst, frequent urination (if type 1 diabetes is present); Low blood pressure or fainting; Skin darkening (from adrenal hormone deficiency); Other autoimmune diseases may appear (e.g., vitiligo, celiac disease).

Autoimmune disorder not inherited in a simple genetic pattern. Triggered by a combination of genetic susceptibility (e.g., certain HLA genes), environmental factors (infections, stress), and immune system dysregulation, leading to attacks on hormone-producing glands. More common in women and often appears between ages 30 and 50.

Blood tests: Low cortisol and high ACTH (Addison's), High TSH and low T4 (hypothyroidism), Blood sugar and HbA1c (diabetes), Electrolyte imbalances; Autoantibody tests: Anti-TPO (thyroid), Anti-21-hydroxylase (adrenal), Anti-GAD (diabetes). Diagnosis based on presence of two or more autoimmune endocrine disorders.

Hormone replacement therapy: Cortisol (hydrocortisone) and sometimes fludrocortisone for adrenal support, Thyroid hormone (levothyroxine), Insulin (if type 1 diabetes is present); Electrolyte and blood sugar monitoring; Regular screening for additional autoimmune conditions; Lifelong follow-up with an endocrinologist.

Manageable with consistent treatment. Requires lifelong hormone replacement and routine monitoring. Missing an Addison's diagnosis can be life-threatening - early diagnosis is crucial. Quality of life is generally good with appropriate care.

Estimated at 1 in 20,000 people. More common in women (3:1 ratio). Onset typically in adulthood.