Autoimmune polyendocrine syndrome (patient information)

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Jinhui Wu, M.D.; Associate Editors-In-Chief: Priyamvada Singh, MBBS [2]

Overview

Autoimmune polyendocrine syndrome ia a rare disease that consists of multiple endocrine gland insufficiencies. There are three autoimmune polyendocrine syndromes: type I, II and III. Type I and type II are also known as Schmidt syndrome. Type III often occurs in adults.

Autoimmune polyendocrine syndrome type I

Autoimmune polyendocrine syndrome, type I, is a very rare disorder. Studies demonstrate that congenital rubella infections and genetic mutations may play an important role in the cause of autoimmune polyendocrine syndrome type I. The three major clinical features of autoimmune polyendocrine syndrome, type I, are chronic mucocutaneous candidiasis, hypoparathyroidism, and autoimmune adrenal insufficiency. Patients with autoimmune polyendocrine syndrome type I ususally appear candidiasis before five years old as the first clinical manifestation. The next signs may be hypoparathyroidism, usually in people younger than 10 years. Lastly, autoimmune adrenal insufficiency occurs in people younger than 15 years. Other manifestations include type 1 diabetes, hypogonadism, pernicious anemia, malabsorption, alopecia, and vitiligo. Treatments focus on the three major clinical features, including fluconazole and ketoconazole, calcium and vitamin D, and steroid. The prognosis of autoimmune polyendocrine syndrome type I is variable, depending on how organs are affected and the severity of the disease.

Autoimmune polyendocrine syndrome type II

Autoimmune polyendocrine syndrome type II, is the most common of the immunoendocrinopathy syndromes. researchers found that genetic susceptibility, congenital rubella infection and immune stimulation may be involved in the disease. It is characterized by the occurrence of autoimmune Addison's disease, accompanying with thyroid autoimmune diseases and/or type 1 diabetes. Other manifestations include primary hypogonadism, myasthenia gravis, and celiac disease. Drugs for such signs mentioned above are the main treatment opinion, including replacement therapy with hydrocortisone and fludrocortisone, antithyroid medications, insulin, and medicines on other manifestations. Prognosis of autoimmune polyendocrine syndrome type II depends on whether endocrine end-organ failures occur or not.

Autoimmune polyendocrine syndrome type III

Compared with type I and II, autoimmune polyendocrine syndrome type III does not involve the adrenal cortex. Studies demonstrate that autoimmunity, environmental factors and genetic factors are involved in the cause of autoimmune polyendocrine syndrome type III. As a syndrome, autoimmune polyendocrine syndrome type III includes a group of diseases, such as celiac disease, hypogonadism, myasthenia gravis, sarcoidosis, rheumatoid arthritis and some gastric carcinoid tumor. The goals of treatment of autoimmune polyendocrine syndrome type III are to correct hormone deficiencies, prevent complications, and reduce morbidity. Treatments include monitoring of glandular functions for early detection of glandular failure, lifelong hormone replacement therapy for established glandular failure, and familial screening. Prognosis of autoimmune polyendocrine syndrome type III depends on whether glandular failures occur or not.

Where to find medical care for autoimmune polyendocrine syndrome?

Directions to Hospitals Treating autoimmune polyendocrine syndrome

Sources

• Eisenbarth GS, Gottlieb PA. Autoimmune polyendocrine syndromes. N Engl J Med 2004;350:2068-79. PMID 15141045.

Copyleft Sources

http://emedicine.medscape.com/article/124183-overview http://www.ist-world.org/ProjectDetails.aspx?ProjectId=832cd17eb7874b09a69201ce60c6efda http://www.statemaster.com/encyclopedia/Autoimmune-polyendocrine-syndrome Template:WH Template:WS