Primary Addison’s disease

Primary Addison's disease


Type of disease: Rare conditions

Primary Addison’s disease is caused by a damaged adrenal gland. The adrenal glands are located at the top of each kidney and make certain steroid hormones. If the gland is damaged, it may not make enough cortisol and aldosterone. Cortisol helps regulate blood sugar levels, how the body makes energy and how it responds to stress and injury. Aldosterone helps maintain blood pressure by balancing potassium, salt and fluid levels. When these two hormones levels are low, symptoms include muscle weakness, weight loss, change in skin color, nausea, depression, and low blood pressure. The symptoms can begin anytime during childhood or adulthood.

There are many causes of Addison’s disease. Sometimes your own immune system attacks your adrenal gland by mistake (autoimmune disease). This can be caused by a mutation (change) to the HLA-DRB1 gene, which makes a protein called the HLA complex. The HLA complex lets the immune system know the adrenal gland is part of its own body. When the HLA complex does not work correctly, the immune system attacks and damages the adrenal gland. Addison’s disease can also be caused by other disorders including adrenoleukodystrophy (ALD). ALD is caused by a build-up of very long chain fatty acids (VLCFAs), which damages the adrenal glands. Many babies are screened for ALD at birth. For more information, visit Baby’s First Test. Infections, cancer and certain medications can also damage the adrenal gland.

Primary Addison’s disease can be confirmed by testing cortisol and aldosterone blood levels. Addison’s disease can be effectively treated with steroids and medication. If you or a family member has been diagnosed with primary Addison’s disease, talk with your doctor and specialists about the most current treatment options. Genetic counselors and support groups are also a good source of information.

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