Amyloidosis Flashcards
What is amyloidosis
A disorder of protein metabolism in which there is an extracellular deposition of pathological insoluble fibrillar proteins n organs and tissue
what does amyloidosis characteristically consist of
ß pleated sheets
= insolubility and resistance to proteolysis
aetiology amyloidosis
acquires or inherited
AL amyloidosis
immunoglubilin light chain associated
what happens in AL amyloidosis
plasma cell dyscrasia related to multiple myeloma
clonal plasma cells in the bone marrow produce immunoglobulins that are amyloidogenic
clinical features AL amyloidosis
related to the organs involved the kidneys - presenting with proteinuria and the nephrotic syndrome the heart - HF carpal tunel paraesthesia of the hands
Familial amyloidoses
transthyretin-associated (ATTR)
autosomal dominant
mutant protein forms amyloid fibrils
starts middle age
cause Familial amyloidoses
AA substitutions which destabilise a transport protein
clinical features familial amyloidoses
can cause cardiomyopathy or nephrotic syndrome
autonomic neuropathy
autonomic dysfunction; diarrhoea and weight loss
reactive systemic amyloidoses (AA)
due to amyloid formed from serum amyloid A which is an acute phase protein, therefore related to chronic inflam disorders and chronic infection
clinical presentation reactive systemic amyloidoses
CKD
hepatomegaly
splenomegaly
diagnosis amyloidoses
clinical suspicion
amyloid tissues appears amorphous and stains pink with H+E
rx amyloidoses
symptomatic
eprodisate interferes with interactions between amyloid proteins and glycosaminoglycans
