Autoimmune Polyglandular Syndrome, Type I

Aka: Autoimmune Polyglandular Syndrome, Type I, APS I, Autoimmune Polyendocrinopathy Syndrome Type 1, Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy

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II. Epidemiology

  1. Onset in childhood or adolescence
  2. Prevalence: 1 in 100,000

III. Pathophysiology

  1. Associated with AIRE genes
    1. May be Autosomal Dominant or recessive
  2. Autoantibodies form against Interferon
    1. Interferon-w
    2. Interferon-a

IV. Diagnosis

  1. Major Conditions for diagnosis
    1. Autoimmune Adrenal Insufficiency
    2. Hypoparathyroidism
    3. Chronic Mucocutaneous Candidiasis
  2. Associated Endocrine Conditions
    1. Primary Ovarian Insufficiency
    2. Autoimmune Thyroid disease
    3. Type 1 Diabetes Mellitus
  3. Associated Gastrointestinal Conditions
    1. Enamel hypoplasia
    2. Gastritis
    3. Enteritis with malabsorption
    4. Hepatitis
    5. Pancreatitis
  4. Associated Skin Disorders
    1. Vitiligo
    2. Alopecia
    3. Nail Dystrophy
  5. Associated Eye Disorders
    1. Keratitis
    2. Retinitis
  6. Other Associated Disorders
    1. Pneumonitis
    2. Nephritis

V. Complications

  1. Adrenal Crisis
  2. Hypocalcemia Crisis
  3. Oropharyngeal Cancer
  4. Esophageal Cancer

VI. References

  1. Bello (2023) Polyglandular Autoimmune Syndrome Type I, StatPearls, Treasure Island, FL
    1. https://www.ncbi.nlm.nih.gov/books/NBK537211/
  2. Meloni (2012) J Clin Endocrinol Metab 97(4):1114-24 +PMID: 22344197 [PubMed]

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