polyglandular failure Flashcards
What is type I APS?
autoimmime polyglandular syndrome 2/3: 1. mucocutaneous candidiasis 2. hypoparathyroidism 3. hypoadrenalism
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
What disorders are associated with type I APS?
hypogonadism, fat malabsorption, vitiligo, chronic hepatitis, pernicious anemia, sjogren’s syndrome
Diagnosis of APS-1
screen for AIRE-1 look for antibodies look at stool fat CBC treat with hormone replacement
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
What are the HLA associations with APS-2
DR3, 4, 5
What disorders are associated with APS 2
vitiligo, alopecia, hypogonadism, pernicious anemia, myasthenia gravis, celiacs, RA, sjogren
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
What predicts the rate of type 1 DM in patients with APS-2
autoantibody titers
Dx of APS-2
organ specific antibodies:
- TPO/TSAb for autoimmune thyroiditis
- Adrenal and 21-OH Abs for adrenal insufficiency
- GAD/IA2/IAA/ICA for type 1 DM
Hormonal proflies needed in APS-2
TSH, ACTH stim test, serum glucose
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.
IPEX syndrome
immune dysregulation, polyendocrinopathy, enteropathy, x-linked recessive in FOX3 gene
POEMS syndrome
polyneuropathy, organomegaly, endocrinopathy, M protein, skin changes
