autoimmune polyendocrine syndromes Flashcards
definition?
group of conditions characterized by functional impairment of multiple endocrine glands due to loss of immune tolerance
common conditions included?
alopecia
vitiligo
celiac disease
autoimmune gastritis with vitamin B12deficiency
how do these syndromes come about?
Circulating autoantibodies and lymphocytic infiltration of the affected tissues / organs
leads to organ failure
what ages are affected by these conditions?
early infancy to elderly
cause of these conditions?
combination of genetic susceptibility and environmental factors
what is APS-1?
rare autosomal recessive disease caused by mutations in autoimmune regulator gene (AIRE)
clinical features of APS-1 - what qualifies for childhood diagnosis?
2/3 of the following -
Chronic mucocutaneous candidiasis
Hypoparathyroidism
Primary adrenal insufficiency (Addison’s disease)
other typical clinical features of APS-1?
Enamel hypoplasia
Enteropathy with chronic diarrhoea or constipation
Primary ovarian insufficiency
less frequent clinical features of APS-1?
bilateral keratitis w severe photophobia
periodic fever with rash
retinitis
poly arthritis
metaphysical dysplasia
which is more common - APS-1 or APS-2?
APS-2
how to characterise APS-2?
2/3 of the following -
type 1 DM
autoimmune thyroid disease
addison’s disease
F:M in APS-2?
F > M
what else tends to accompany APS-2?
other autoimmune diseases -
coeliac alopecia vitiligo 1y ovarian insufficiency pernicious anaemia
when does APS-2 usually occur?
onset @ young adulthood, later than APS-1
IPEX - 3 things that characterise this very rare condition?
early onset type 1 DM
autoimmune enteropathy with diarrhoea and malabsorption
dermatitis
(which can be eczematiform, itchhyosiform or psoriasiform)
