Addison's disease

Addison`s disease, or adrenal insufficiency, is a rare 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 consequence the outer layer of the gland is damaged. Other causes may include infections such as tuberculosis, cancer in this area or 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 cause this stimulation not to occur and the adrenal gland does not release enough hormones.

Symptoms

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

  • Very marked fatigue
  • Loss of weight and appetite
  • Darkening of certain areas of the skin
  • Low blood pressure
  • Preference for salty foods
  • Hypoglycemia
  • Nausea, diarrhea and/or vomiting
  • Muscle and/or abdominal pain
  • Hair loss

Although infrequent, symptoms may begin suddenly and can be life-threatening, so if symptoms such as extreme weakness, confusion, lower back pain, severe vomiting and diarrhea, decreased consciousness and/or low blood pressure occur, 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, a correct treatment based mainly 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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