Amyloidosis

Question 1

What is it?

Answer 1

Misfolded proteins create insoluble amyloid fibrils which do not degrade and deposit into tissues or organs
Leads to disruption of tissue architecture and function

Often affects multiple organs

Question 2

What investigations are required?

Answer 2

Biopsy of rectum, abdo fat or affected organ
- congo red staining- under polarised light confirms amyloid

Question 3

What is AL (primary) amyloidosis?

Answer 3

Misfolded immunoglobulin light chains caused by plasma cell dyscrasias

Causes include
- multiple myeloma
- MGUC
- Waldenstroms macroglobulinaemia

Question 4

What are complications of Primary amyloidosis?

Answer 4

Restrictive Cardiomyopathy
- thickened walls with sparkling myocardium
- low voltage QRS complexes

Neurological
- peripheral neuropathy: numbness, tingling

Renal
- Nephrotic syndrome: proteinuria , oedema, frothy urine

Question 5

What is secondary AA amyloidosis?

Answer 5

Misfolded serum amyloid protein caused by inflammation or infection

TB
Bronchiectasis
RA
SLE
IBD

Question 6

What are complications of secondary amyloidosis?

Answer 6

Renal
- nephrotic syndrome

Hepatic
- hepatomegaly

Systemic
- weight loss
- fatigue
- generalised weakness