Addison's disease

Addison's disease, or adrenal insufficiency, is an uncommon condition in which the adrenal glands do not produce enough of the hormones cortisol and/or aldosterone. It can be potentially serious and affects people of any age.

The origin of the disease is the lesion of the adrenal glands. Adrenal insufficiency can be of two types:

  • Primary: it usually has an autoimmune origin and as a result, the outer layer of the gland is damaged. Other causes can include certain infections such as tuberculosis, cancer in this area, or the presence of bleeding.
  • Secondary: the pituitary gland releases certain hormones that stimulate the adrenal glands. The presence of tumors (cancerous or not) in the pituitary gland, as well as its inflammation or surgery, can prevent this stimulation from occurring and the adrenal gland from releasing sufficient amounts of hormones.

Symptoms

Symptoms usually appear gradually over months. In fact, it is very common for the disease to progress very slowly at the beginning and for a stressful episode to worsen the symptoms. Among the most common symptoms are the following:

  • Severe fatigue
  • Weight and appetite loss
  • Darkening of certain areas of the skin
  • Low blood pressure
  • Craving for salty foods
  • Hypoglycemia
  • Nausea, diarrhea, and/or vomiting
  • Muscle and/or abdominal pain
  • Hair loss

Although infrequently, symptoms can start suddenly and be life-threatening, so in the presence of symptoms such as extreme weakness, confusion, pain in the lower back, severe vomiting and diarrhea, decreased consciousness, and/or low blood pressure, it is recommended to seek immediate medical help.

Prevention

There is no way to prevent Addison's disease, although there are ways to minimize crises. For this, early diagnosis of the disease is important. Once diagnosed, proper treatment based primarily on corticosteroids is essential to prevent symptoms.

Number of observed variants

13.5 million variants

Number of risk loci

8 loci

Genes analyzed

AIRE BACH2 CTLA4 LPP RSBN1 SH2B3 SPACA6 UBASH3A

Bibliography

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