Genes involved in autoimmune Addison’s disease discovered; personalised treatment now a possibility

Most of these genes linked to autoimmune Addison's disease are directly involved in the development and functioning of the human immune system. The finding could pave the way for early interventions and personalised treatment of the incurable condition, the researchers said.

By: Longjam Dineshwori | | Updated: February 15, 2021 10:42 am

Abnormally dark skin (hyperpigmentation) is a characteristic feature of autoimmune Addison disease. It could turn your lips and the inside lining of the mouth dark. (Image: The Lancet)

Autoimmune Addison’s disease, also called adrenal insufficiency, occurs when your adrenal glands, located just above your kidneys, don’t produce enough of the steroid hormones, cortisol and aldosterone. Because it results from a malfunctioning immune system that attacks and destroys the adrenal glands, it is classified as an autoimmune disorder. However, the cause of the disease is not completely understood yet. A combination of environmental and genetic factors is thought to play a role in the development of the disorder.

In a breakthrough discovery, Daniel Eriksson from the Karolinska Institutet in Sweden and his team have discovered the genes involved in autoimmune Addison’s disease.

According to their study results published in the journal Nature, most of these genes are directly involved in the development and functioning of the human immune system. These include specific molecular types in the so-called HLA-region and two different types of a gene called AIRE (which stands for AutoImmune Regulator).

AIRE helps in removing self-reacting immune cells but variants of the gene (like the ones identified in the study) could compromise this process, which could lead to an autoimmune attack later in life – explained the researchers.

The finding could pave the way for early interventions and personalised treatment of the incurable condition, the researchers added.

Autoimmune Addison disease: know the signs and symptoms

Often the signs and symptoms of autoimmune Addison disease begin between ages 30 and 50. However, the symptoms can begin at any time. Abnormally dark skin (hyperpigmentation), especially in regions that experience a lot of friction, such as the armpits, elbows, knuckles, and palm creases is a characteristic feature of autoimmune Addison disease. The autoimmune disorder could also turn your lips and the inside lining of the mouth dak.

This could be accompanied by extreme tiredness (fatigue), nausea, decreased appetite, and weight loss. Other common features of this autoimmune disorder experience include:

Low blood pressure (hypotension), which can cause dizziness when standing up quickly
Muscle cramps
A craving for salty foods.
Loss of underarm and pubic hair in women. This results from an imbalance of hormones involved in development of sexual characteristics.
Low levels of sugar (hypoglycemia) and sodium (hyponatremia)
High levels of potassium (hyperkalemia) in the blood
Shortage of red blood cells (anemia)
An increase in the number of white blood cells (lymphocytosis), particularly those known as eosinophils (eosinophilia).

In severe cases, autoimmune Addison disease can lead to a life-threatening adrenal crisis, often triggered by a stressor, such as surgery, trauma, or infection. A person with this condition may experience vomiting, abdominal pain, back or leg cramps, and severe hypotension leading to shock.

Apart from an autoimmune reaction, Addison disease may result from infections that damage the adrenal glands, such as tuberculosis, or tumours.

How is Addison’s disease treated?

Individuals with Addison’s disease is usually treated with hormone replacement therapy to correct the levels of steroid hormones. Common medication includes oral corticosteroids such as Hydrocortisone (Cortef), prednisone or methylprednisolone to replace cortisol and Fludrocortisone acetate to replace aldosterone.

If you have Addison’s disease, you may be advised to increase your salt (sodium) intake, especially during heavy exercise, hot weather or if you have gastrointestinal upsets, such as diarrhoea.

With inputs from IANS

Published : February 14, 2021 8:24 pm | Updated:February 15, 2021 10:42 am

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