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What are Autoimmune Polyglandular Syndromes?

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  • Written By: D. Jeffress
  • Edited By: Jenn Walker
  • Last Modified Date: 01 December 2016
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Autoimmune polyglandular syndromes are a collection of genetic disorders that can arise in many different ways and cause a wide range of health problems. Most doctors recognize three types of autoimmune polyglandular syndromes — types I, II and III — based on the specific glands and body systems they affect. The adrenals, thyroid, parathyroid, and other glands may be involved, and diabetes is a common co-occurrence. Treatment depends on the underlying conditions, but most patients need to take hormone replacement drugs and anti-inflammatory medications regularly to help manage symptoms.

Type I autoimmune polyglandular syndromes are very rare, and they primarily begin causing problems in childhood. A child may experience multiple autoimmune conditions, such as a combination of adrenal insufficiency, lupus, rheumatoid arthritis, or parathyroid problems. Symptoms may include fatigue, vomiting, dehydration, hair loss, and changes in skin complexion. Patients are also susceptible to candidiasis, a type of reoccurring fungal yeast infection. Doctors have linked type I syndromes to particular genetic mutation on chromosome 21.

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Autoimmune polyglandular syndromes that are classified as type II are more common than type I syndromes, and they usually do not become active until adulthood. Most people with type II syndromes suffer from an adrenal disorder called Addison's disease and a potentially serious thyroid condition called Hashimoto's thyroiditis. Diabetes is also a common clinical feature of type II disorders. Patients can experience a range of symptoms, such as digestive problems, memory loss, lethargy, confusion, and poor muscle control. Unlike type I syndromes, type II disorders are related to multiple genetic mutations on more than one chromosome.

Type III disorders are the least common of the autoimmune polyglandular syndromes. They are unique in that the adrenal glands are usually not affected. Instead, a person can have co-occurring thyroid disease, anemia, and diabetes. Depending on the severity of hormone imbalances and inflammatory responses, symptoms can include malnourishment, weight loss, fatigue, and frequent viral illnesses. The causes of type III disorders are not well understood, but genetic research suggests that multiple mutations are involved.

Extensive testing is needed to confirm the presence of an autoimmune polyglandular syndrome and note every underlying symptom. Doctors screen blood and urine samples to look for anemia, yeast infections, and abnormal hormone counts. Imaging tests are performed to check for physical damage to the adrenals, kidneys, liver, and other organs. Advanced genetic tests are also performed to pinpoint the chromosomes involved.

Treatment is usually geared toward curing or managing each underlying disorder. Patients with adrenal, parathyroid, and thyroid problems generally need artificial hormone therapy to make up for deficiencies. Diabetes is treated with insulin injections, and inflammatory conditions such as arthritis and lupus are combated with corticosteroids. There are no clear cures for autoimmune polyglandular syndromes, but regular checkups and ongoing treatment can significantly improve symptoms and patients' quality of life.

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