amyloidosis Flashcards
(19 cards)
what is amyloidosis ?
extracellular deposition of proteins in abnormal form , fibrillar form , beta pleated sheets
what are the different forms of localized amyloid deposition ?
Alzheimer disease - beta pleated sheets
isolated atrial amyloidosis - ANP
T2DM - islets amyloid polypeptide
medullary thyroid cancer - calcitonin
what are the types of systemic amyloidosis ?
primary - light chains
secondary - serum amyloid A
transthyretin - age related
dialysis related - beta 2 microglobulin
what is the normal function of transthyretin ?
transports thyroid hormones and vitamin A
what is the mutation associated with transthyretin ?
mutation is associated with TTR gene - causing hereditary amyloidosis
the sporadic form is associated with aging
how are amyloids visualized on immuno ?
apple green biferengence in polarized light
stained with congo red stain
where do we see primary amyloidosis ?
associated with multiple myeloma , seen in plasma cell dyscrasia
light chains Ig AL
what is seen on biopsy in primary amyloidosis ?
monoclonal plasma cells
what is the treatment for primary amyloidosis ?
stem cell transplantation
what is secondary amyloidosis and what is it associated with ?
associated with serum amyloid A proteins SAA , associated with chronic inflammatory conditions RA, ankylosing spondylitis and IBD
what type of amyloidosis is associated with familial mediterranean fever ?
secondary amyloidosis , major cause of death
what is the treatment for FMF ?
colchicine - it inhibits neutrophils
what type of amyloid deposit is associated with dialysisi related amyloidosis ?
b2 microglobulin
what is the presentation associated with dialysisi related amyloidosis ?
patient with ESRD
shoulder pai
carpal tunnel
what is b2 microglobulin a part of ?
MHC 1
where is the most common place where age related amyloidosis is seen ?
in the heart causes restrictive CM
seen in patients above the age of 70
how can familial amyloidosis be treated ?
mutant transthyretin
what are the effects of amyloidosis in each of these organ systems :
renal , cardiac, neuro, MSK, skin
renal - nephrotic syndrome
cardiac - restrictive CM
neuro - peripheral neuropathy
MSK - carpel tunnel syndrome
skin - raccoon eyes , waxing and bruising of the skin
how is a diagnosis of amyloidosis made ?
abdominal fat pad preferred in biopsy
