Autoimmune Polyglandular Syndrome (APS)

Autoimmune Polyglandular Syndrome (APS)

Dr. KennedyAPS (autoimmune polyglandular syndrome) is a genetic autoimmune disease with an array of clinical features characterized most often by at least 2 of the following 3 findings: (1) hypoparathyroidism — underfunction of the parathyroid glands which control calcium, (2) candidiasis (yeast infection), and (3) adrenal insufficiency (underfunction of the adrenal gland). APS was the first systemic (bodywide) autoimmune disease found due to a defect in a single gene. The child with APS develops problems in numerous glands (polyglandular) including hypoparathyroidism, hypogonadism (with sex gland failure), adrenal insufficiency, type 1 (insulin-dependent) diabetes with insufficient insulin production by the pancreas gland, and latent hypothyroidism (underfunction of the thyroid gland). Other features of APS are total baldness (alopecia totalis), inflammation of the cornea and whites of the eye (keratoconjunctivitis), underdevelopment (hypoplasia) of the enamel of the teeth, childhood-onset moniliasis (yeast infection), juvenile-onset pernicious anemia, gastrointestinal problems (malabsorption, diarrhea), and chronic active hepatitis.

The clinical appearance of patients with polyglandular deficiency syndromes is the sum of each of the individual deficiencies. There is no specific sequence for appearance of individual glandular damage.

Type I Syndrome

This is an infection of the skin or mucous membrane with any special species of Candida, chiefly Candida albicans, and associated endocrinopathies (for example, Addison’s disease and hypoparathyroidism).

Type II Syndrome

These diseases begin in early childhood. Patients initially develop candidiasis and hypoparathyroidism, but more than half of the patients also develop Addison’s disease.

Type III Syndrome

Associated disorders include ovarian failure, alopecia, malabsorption, and chronic hepatitis. Patients have organ-specific autoantibodies and defects in cell-mediated immunity. The origin of this disease is unknown.

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