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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

POEMS syndrome

polyneuropathy, organomegaly, endocrinopathy, M protein, skin changes