AUTOIMMUNE

P O LY G L A N D U L A R
SYNDROMES

By, Thevathas Bavatharani

C L A S S I F I C AT I O N

APS

APS 1 APS 2 APS 3

 A U T O I M M U N E P O LY G L A N D U L A R
SYNDROME TYPE 1
• APS is a polyglandular autoimmune disease due to deletion of the AIRE1 gene on
chromosome 21.
• Inherited autosomal recessive pathology
• This is also known as Autoimmune Polyendocrinopathy-candidiasis-ectodermal
dystrophy (APECED) or Blizard’s syndrome
• Characterized by presence of mucocutaneous candidiasis. Autoimmune
hypoparathyroidism and adrenal insufficiency.
• Not HLA associated
CLINICAL SIGNS OF APS1

• Chronic mucocutaneous candidiasis appear at the age of 10, followed

by the hypoparathyroidism and then by the adrenal insufficiency
• Alopecia
• Vitiligo
• Pernicious anemia
• Chronic hepatitis
 DIAGNOSTIC MARKERS

Sensitive markers:
• Antibodies to steroidogenesis -17-α-hydroxylase, 21-hydroxylase
• Antigens to glutamate decarboxylase (CAD65-A6), aromatic-α-amino acid
decarboxylase
• Parathyroid antigen
• Antibodies to candida albicans
• Hepatic markers: APS-1 P4501A2 and P4502A6
 A U T O I M M U N E P O LY G L A N D U L A R
SYNDROME TYPE 2
• It is called the Schmidt’s syndrome
• Autosomal dominant pathology
• Involves chronic adrenal insufficiency and autoimmune diseases of thyroid
gland with combination of type 1 diabetes
• Occurrence in women higher
• Diagnosed between the ages 20 to 50
• HLA associated
 DIAGNOSTIC MARKERS

• Thyroxin levels, TTG, AtTRO

• Fasting glycemia
• Glycosylated hemoglobin
• Calcium ionization level
• Cortisol level in blood
• Detection of pernicious anemia, gonadial insufficiency, alopecia, vitiligo
and other symptoms
T R E AT M E N T

• Lifelong insulin treatment for type 1 diabetes

• Thyroid replacement therapy for Hashimoto thyroiditis
• Intramuscular injections of vitamin B12 for pernicious anemia
• Corticosteroid replacement for Addison disease
THANK YOU