Flashcards in polyglandular failure Deck (14):
1
What is type I APS?
autoimmime polyglandular syndrome
2/3:
1. mucocutaneous candidiasis
2. hypoparathyroidism
3. hypoadrenalism
2
What causes type I APS?
AIRE-1 mutation
this gene is an autoimmune regulator and allows the thymus to recognize something as "self"
presents in childhood
3
What disorders are associated with type I APS?
hypogonadism, fat malabsorption, vitiligo, chronic hepatitis, pernicious anemia, sjogren's syndrome
4
Diagnosis of APS-1
screen for AIRE-1
look for antibodies
look at stool fat
CBC
treat with hormone replacement
5
What is APS-2. who gets it. inheritance
adrenal insuffiency PLUS
1. autoimmune thyroid disease And/or
2. type 1 DM
more common than APS-1
usually in adults, usually in females
autosomal dominant with incomplete penetrance
6
What are the HLA associations with APS-2
DR3, 4, 5
7
What disorders are associated with APS 2
vitiligo, alopecia, hypogonadism, pernicious anemia, myasthenia gravis, celiacs, RA, sjogren
8
Natural history of autoimmune adrenalitis
starts with a genetic predisposition
then there is an asymptomatic phase
then a symptomatic under stress
then an overtly symptomatic phase
9
What predicts the rate of type 1 DM in patients with APS-2
autoantibody titers
10
Dx of APS-2
organ specific antibodies:
1. TPO/TSAb for autoimmune thyroiditis
2. Adrenal and 21-OH Abs for adrenal insufficiency
3. GAD/IA2/IAA/ICA for type 1 DM
11
Hormonal proflies needed in APS-2
TSH, ACTH stim test, serum glucose
12
APS 3: symptoms and inheritance. When does it manifest?
autoimmune thyroid, pernicious anemia, type 1 DM, vitiligo
NO ADDISON'S
autosomal dominant with incomplete penetrance
esp. middle aged women.
13
IPEX syndrome
immune dysregulation, polyendocrinopathy, enteropathy, x-linked recessive in FOX3 gene
14