Polyglandular Syndrome type 1 (APS-1), also known as Autoimmune Polyendocrine Syndrome type 1, is a rare, inherited, autoimmune disorder characterized by the presence of two or more autoimmune diseases affecting the endocrine glands. APS-1 is caused by a mutation in the AIRE gene, which is responsible for the production of a protein that helps control the body’s immune system.
Symptoms of Polyglandular Syndrome type 1
People with APS-1 may experience a variety of symptoms related to their endocrine glands, including:
• Hypothyroidism – an underactive thyroid gland, resulting in fatigue and weight gain
• Adrenal insufficiency – a lack of hormones produced by the adrenal glands, leading to fatigue, low blood pressure, and loss of appetite
• Diabetes mellitus – a condition characterized by high blood sugar, leading to thirst, frequent urination, and weight loss
• Alopecia – hair loss from the scalp and/or body
• Vitiligo – a condition characterized by patches of pale skin
• Autoimmune hepatitis – a condition causing inflammation and scarring of the liver
• Myasthenia gravis – a neuromuscular disorder causing muscle weakness
• Celiac disease – an autoimmune disorder affecting the small intestine, causing malabsorption of nutrients
• Addison’s disease – an endocrine disorder caused by a lack of hormones produced by the adrenal glands, leading to fatigue, low blood pressure, and weight loss
• Pernicious anemia – an autoimmune disorder where the body is unable to absorb vitamin B12 from food
Diagnosis of Polyglandular Syndrome type 1
APS-1 is usually diagnosed in childhood or adolescence, after a person has been diagnosed with two or more autoimmune disorders. To confirm a diagnosis of APS-1, a person will need to have blood tests to check for antibodies associated with APS-1 and genetic testing to check for a mutation in the AIRE gene.
Treatment of Polyglandular Syndrome type 1
Treatment for APS-1 is tailored to the individual and may include medications to treat the underlying autoimmune disorders, as well as lifestyle modifications to manage symptoms. People with APS-1 should also be monitored for complications associated with the condition, such as low blood sugar, low blood pressure, and infection.