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APECED is an acronym for autoimmune polyendocrinopathy, candidiasis, ectodermal dystrophy. This autoimmune syndrome is composed of multiple endocrinopathies associated with various other signs, including hepatitis and eye abnormalities. Can lead to premature death.

Whitaker Syndrome; Autoimmune Polyendocrinopathy Syndrome, type I; Polyglandular Autoimmune Syndrome Type I; Hypoadrenocorticism Hypoparathyroidism Moniliasis.

Very rare syndrome. Occurs more frequently in Finland, where the prevalence in the general population is estimated to be 1:25,000 in the general population. Depending on the source, females are affected up to twice as often as males.

Autosomal recessive and autosomal dominant inheritance are observed. This disorder may not be inherited as a simple mendelian recessive but may be autoimmune in nature.

Maps to 21q22.3. A mutation in the AIRE (autoimmune regulator) gene is responsible for pathogenesis of APECED syndrome.

Determined by the presence of two of the three major clinical symptoms: (1) hypoparathyroidism (present in almost 80% of patients), (2) corticoadrenal hyperplasia or hypoplasia (>70%), and/or (3) chronic mucocutaneous candidiasis. It affects children and adults younger than 35 years and can be lethal in infancy or childhood.

Mucocutaneous candidiasis is most often the first symptom and usually appears between 3 and 5 years of age. Over the next 5 years, hypoparathyroidism very likely occurs, whereas adrenal insufficiency often takes another 5 years to become clinically manifest. This is the most common order and time frame; however, wide variations are possible, and the different organ manifestations of this disease can occur independent of each other. More than three fourths of APECED patients develop chronic hypoparathyroidism, which can lead to tetany with carpopedal spasms (Trousseau sign), Chvostek sign, acral paresthesias, laryngospasm, mild encephalopathy, seizures, cataracts, and papilledema. The ECG may show QT interval prolongation and ventricular arrhythmias. Signs of mineralocorticoid and glucocorticoid deficiency often occur simultaneously, although their onsets can be up to 3 years apart. Initial symptoms are chronic fatigue, weakness, anorexia, and orthostatic hypotension. Hyperpigmentation as a sign of primary adrenal insufficiency can be helpful for the differential diagnosis. Weight loss and arterial hypotension (not only associated with orthostasis) usually are late signs of Addisonian syndrome. Beside the endocrine features, patients may have hypogonadism (more frequent in women), insulin-dependent diabetes mellitus, hypoaldosteronism, and pituitary defects. Other organs affected may include the eye (keratopathy, keratoconjunctivitis, cataract, photophobia), teeth (enamel hypoplasia), skin (vitiligo, ectodermal dystrophy, alopecia, chronic mucocutaneous candidiasis), and gastrointestinal tract (malabsorption, diarrhea, chronic atrophic gastritis, pernicious anemia, chronic active hepatitis, cholelithiasis, asplenia). Cerebral vascular anomalies and intracranial calcifications have been reported. Laboratory investigations may detect pernicious anemia, multiple autoantibodies, and abnormal phosphate and calcium metabolism.

Evaluate endocrine status clinically and with laboratory investigations, including blood and urine electrolytes (phosphate and calcium), blood glucose, thyroid function tests, and echocardiography. Obtain a complete blood count (anemia). Evaluate cardiac status (clinical, ECG). Evaluate hepatic function in case of chronic hepatitis (clinical, ...

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