According to Huether and McCance (2017), Addison’s disease is an auto-immune disorder marked by adrenal insufficiency and is more common in white women than all ethnicities of men. Relatively rare, this disease most often occurs between the ages of 30-60 (Huether &McCance, 2017). Addison’s disease is an inherited disorder, however, research on the pathway of genetic inheritability has been limited because the genotype of a patient does not always predict their phenotype and the rarity of disease inhibits large scale genetic analysis (Mitchell & Pearce, 2012). According to Mitchell and Pearce (2012), it is a progressive disease with symptoms developing over months or years. Initial clinical manifestations of disease will appear in the increase of adrenocorticotropic hormone and renin well before adrenal failure develops (Mitchell & Pearce, 2012).
Pathological changes of the adrenal glands (including adrenal atrophy) are combined with fatigue, hypotension, weight loss and hyper skin pigmentation (Mitchell & Pearce, 2012). The steroidogenic enzymes in the adrenal cortex of the patient with Addison’s disease become targets for the immune system to attack (Mitchell & Pearce, 2012). The presence of circulating steroid 21-hydroxylase antibodies is a reliable predictor of Addison’s Disease, this is normally located on the smooth endoplasmic reticulum of intact cells (Mitchell & Pearce, 2012). This can lead to other autoimmune responses in the body, metastatic malignancy, amyloidosis, hemorrhage, infections, adrenoleuko dystrophy, or sarcoidosis. Other clinical manifestations include low levels of cortisol in serum and urine tests, increased ACTH levels, BUN increases (due to dehydration), Eosinophil and lymphocyte elevations, hyperkalemia and mild alkalosis (Huether & McCance, 2017). Treatment involves glucocorticoid and mineralocorticoid replacement for life as well as increases in sodium intake if patient experiences excessive sweating and diarrhea.
Huether, S. E., & McCance, K. L. (2017). Understanding Pathophysiology(6th ed.). St. Louis,
Mitchell, A. L., & Pearce, S. H. S. (2012). Autoimmune Addison disease: pathophysiology and
genetic complexity. Nature Reviews. Endocrinology, 8(5), 306–316.