Autoimmune polyendocrinopathy

Autoimmune polyendocrinopathy, also known as autoimmune polyglandular syndrome, is a group of rare disorders characterized by the malfunction of multiple endocrine glands due to autoimmune activity. These disorders are classified into Type 1, Type 2, and Type 3, each with distinct clinical features and genetic associations.

Overview

Autoimmune polyendocrinopathy results from the immune system mistakenly attacking the body's own tissues, specifically the endocrine glands. These glands produce hormones that regulate various bodily functions, such as metabolism, growth, and sexual development. When these glands are damaged, it can lead to a variety of health problems.

Types

Type 1

Autoimmune polyendocrinopathy type 1, also known as Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy (APECED), is a rare genetic disorder. It is characterized by the presence of two of the following three conditions: chronic mucocutaneous candidiasis, hypoparathyroidism, and Addison's disease.

Type 2

Autoimmune polyendocrinopathy type 2, also known as Schmidt's syndrome, is characterized by the occurrence of Addison's disease along with either thyroid disease or type 1 diabetes.

Type 3

Autoimmune polyendocrinopathy type 3 is characterized by autoimmune thyroiditis and another organ-specific autoimmune disease, but does not involve Addison's disease.

Causes

Autoimmune polyendocrinopathy is caused by mutations in certain genes that play a role in immune system function. These mutations lead to a breakdown in immune tolerance, causing the immune system to attack the body's own tissues.

Treatment

Treatment for autoimmune polyendocrinopathy involves managing the symptoms of the individual endocrine disorders. This may include hormone replacement therapy, medication to manage immune system activity, and lifestyle modifications.

See also

• Autoimmune disease
• Endocrine system
• Addison's disease
• Hypoparathyroidism
• Type 1 diabetes
• Thyroid disease

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