amyloidosis

Question 1

define amyloidosis?

Answer 1

diseases characterised by extracellular deposition of amyloid fibrils

Question 2

how is amyloidosis categorised?

Answer 2

● Amyloidosis is classified according to the fibril subunit proteins

Question 3

what are the main types of amyloidosis?

Answer 3

o Type AA
secondary amyloidosis

o Type AL
primary amyloidosis

o Type ATTR
familial amyloidosis

Question 4

what is the epidemiology of amyloidosis?

Answer 4

• Typically diagnosed between ages 50-66

Question 5

what is the common presentation of amyloidosis?

Answer 5

Breathlessness and weakness with loss of renal function and proteinuria

Question 6

what is a characteristic mouth sign of amyloidosis?

Answer 6

macroglossia

Question 7

investigations for amyloidosis?

Answer 7

● Urine - check for proteinuria, free immunoglobulin light chains (in AL)
● Bloods
● Serum Amyloid Precursor Scan - radiolabelled SAP will localise the deposits of amyloid
● Congo red staining: apple green birefringence.
● Tissue Biopsy – to diagnose amyloidosis