Professional Documents
Culture Documents
Autoimmune Polyglandular Syndrome Review
Autoimmune Polyglandular Syndrome Review
Diagnosis:
• 2/3 of the bold signs and symptoms
• DNA testing for AIRE mutations
• Laboratory tests for autoantibodies against interferons
Treatment:
• Treat the manifestations present
• Use hormone replacement therapy (thyroxin, hydrocortisone, insulin)
• Immunosuppression for extra endocrine effects
• Calcium and Vitamin D in hypoparathyroidism
• Vitamin B12 when pernicious anemia
• Antifungals for chronic mucocutaneous Candidiasis
Autoimmune polyglandular syndrome type 2
Diagnostics
• Condition‑specific antibody tests (e.g., TPO antibodies in Hashimoto thyroiditis,
antiparietal cell antibodies in pernicious anemia)
Hypocalcemia by hypoparathyroidism
• Tetany may be mild (perioral numbness, paresthesias of the hands and feet, muscle
cramps) or severe (carpopedal spasm, laryngospasm, and focal or generalized seizures,
which must be distinguished from the generalized tonic muscle contractions that occur in
severe tetany). The classic physical findings in patients with neuromuscular irritability due
to latent tetany are Trousseau's and Chvostek's signs
• Other patients have less specific symptoms, such as fatigue, hyperirritability, anxiety, and
depression, and some patients, even with severe hypocalcemia, have no neuromuscular
symptoms. Cardiac findings may include a prolonged QT interval, hypotension, heart
failure, and arrhythmia
• Chronic hypocalcemia might lead to basal ganglia calcifications, cataracts, dental
abnormalities, and ectodermal manifestations. Some patients also report poor quality of
life.
• Laboratory findings: hypocalcemia, low PTH, elevated phosphorus. Usually have normal
or low Vitamin D. Normal magnesium and creatinine levels