Systemic amyloidosis

Question 1

**Primary amyloidosis **

disease association:

precursor protein:

misfolding mechanism:

Amyloid fibril type:

Clinical manifestations:

Answer 1

disease association: plasma dyscrasia

precursor protein: immunoglobulin light chains

misfolding mechanism: increased production

Amyloid fibril type: AL

Clinical manifestations: nephropathy, hepatosplenomegaly, cardiomyopathy, peripheral neuropathy, macroglossia, skin brusing

Question 2

Secondary amyloidosis

disease association:

precursor protein:

misfolding mechanism:

Amyloid fibril type:

Clinical manifestations:

Answer 2

disease association: chronic infection/inflammation

precursor protein: serum amyloid A

misfolding mechanism: increased production

Amyloid fibril type: AA

Clinical manifestations: nephropathy, hepatosplenomegaly, neuropathy, macroglossia, skin bruising

Question 3

Age related amyloidosis

disease association:

precursor protein:

misfolding mechanism:

Amyloid fibril type:

Clinical manifestations:

Answer 3

disease association: elderly men

precursor protein: transthyretin (prealbumin)

misfolding mechanism: accumulation over time

Amyloid fibril type: ATTR

Clinical manifestations: infiltrative cardiomyopathy , carpal tunnel syndrome, peripheral neuropathy

Question 4

Dialysis related amyloidosis

disease association:

precursor protein:

misfolding mechanism:

Amyloid fibril type:

Clinical manifestations:

Answer 4

disease association: ESRD on dialysis

precursor protein: B2 microglobulin

misfolding mechanism: decreased clearance

Amyloid fibril type: AB2M

Clinical manifestations: scapulohumeral arthritis, carpal tunnel syndrome