What is Addison's disease?
Addison disease is a rare disease in which the adrenal glands aren’t functioning properly, causing a hormonal disorder. Addison disease affects the body’s ability to respond to physical stress. It can occur at any age and develops when the body produces too little cortisol, a hormone that helps control blood sugar levels and metabolism. In addition, it can occur when the body produces insufficient levels of aldosterone, a hormone that controls sodium and potassium in the blood.
Addison disease can be caused by a number of things, including autoimmune disease, infections, an X-linked trait blood loss and cancer. If left untreated, Addison disease can cause severe abdominal pain, weakness, low blood pressure, kidney failure and shock.
How we care for Addison disease
Addison disease is treated by the Boston Children's Division of Endocrinology, which provides comprehensive diagnosis, treatment and management for patients with disorders of the adrenal gland and other parts of the body associated with the endocrine system.
Our approach to treating Addison disease is both patient-focused and family-centered. The family is included in every stage of the treatment process.
Addison's Disease | Symptoms & Causes
What are the symptoms of Addison’s disease?
Symptoms of mild Addison's disease may only be apparent when your child is under physical stress. While each child may experience symptoms differently, some of the most common symptoms include:
- rapid pulse
- darkening of the skin (first noted on hands and face)
- black freckles
- bluish-black discoloration around the nipples, mouth, rectum, scrotum or vagina
- weight loss
- loss of appetite
- intense salt craving
- muscle aches
- intolerance to cold
What causes Addison’s disease?
Addison’s disease is most often caused by the destruction of the adrenal gland due to an autoimmune response. Some cases are caused by the destruction of the adrenal glands through cancer, infection or other disease.
Other causes may include:
- use of corticosteroids (such as prednisone) to treat another condition, such as asthma, inflammatory bowel disease or certain types of cancer
- use of certain medications to treat fungal infections, which may block production of corticosteroids in the adrenal glands
In rare cases, Addison's disease is inherited as an X-linked trait, meaning that the gene responsible for the condition is located on the X chromosome and passed down from a mother to her child. In this form, symptoms typically begin in childhood or adolescence.
Addison's Disease | Diagnosis & Treatment
How is Addison’s disease diagnosed?
Symptoms for Addison’s disease often come on slowly. In addition to a complete medical history and physical examination, diagnostic procedures for Addison's disease may include:
- laboratory blood tests to measure levels of corticosteroid hormone (cortisol) and the pituitary hormone ACTH, which regulates adrenal gland function
- ACTH stimulation test to assess adrenal gland function
- measurement of electrolytes in the blood
Based on the results of these tests, your child’s doctor will be able to definitively diagnose whether your child has Addison’s disease.
How is Addison's disease treated?
The goal of treatment is to restore your child's adrenal function by replacing essential hormones such as hydrocortisone. Sometimes, prednisone may be used in place of hydrocortisone. Hormones may be taken orally or intravenously, depending on your child's condition. In most cases, your child must continue taking them for life. In addition, your child may need to increase medication during times of physical stress, injury, infection or surgery.
Treatment may also include a synthetic form of aldosterone that helps restore the body's levels of sodium and potassium. Because Addison's disease is rare and isn't typically tested in an emergency situation, it's a good idea for your child to wear a Medic Alert bracelet that clearly communicates the condition to others.