Addison’s disease is a disease of the adrenal cortex caused by autoimmune destruction of the adrenal gland with fibrosis and mononuclear cell infiltration. Symptoms become evident when more than 90% of the adrenal gland is destroyed. Addison’s disease is characterized by increased production of adrenocorticotropic hormone (ACTH) and adrenal insufficiency with reduced production of corticosteroids and androgens. Patients present with hypotension, weakness, fatigue, light headedness when standing up, anorexia, nausea, salt craving and increased melanin pigmentation of the skin.

Clinical Utility

Highest genetic risk is associated with particular Major Histocompatibility Complex (MHC) alleles, specifically Human Leukocyte Antigen (HLA)-DR3 and HLA-DR4. Genetic testing can offer a better understanding of the origin of the disease, for improved diagnosis and treatment.