Amyloidosis

Question 1

What is amyloidosis?

Answer 1

Abnormal tissue deposit of amyloid protein

Question 2

What is primary amyloidosis associated with?

Answer 2

Ig Light Chains

Question 3

What are the associations for primary amyloidosis?

Answer 3

✶ Multiple Myeloma
✶ Lymphoma
✶ Waldenstron’s macroglobulinaemia

Question 4

What is secondary amyloidosis associated with?

Answer 4

serum amyloid A

Question 5

What are the associations of secondary amyloiodsis?

Answer 5

✶ Rh arthritis
✶ IBD
✶ Chronic infection – TB

Question 6

What is the epi of amyloidosis?

Answer 6

• 60 new cases/year UK

- Mean age 63y (any age possible)

Question 7

What are investigations for amyloidosis?

Answer 7

1. Supportive: dialysis, diuretics etc
2. Chemo: melphalan, steroids
3. Monoclonal Abs – bortezomib
4. BM ablation + autologous SCT
5. Colchicine (secondary only)

Question 8

What histological tests are done in amyloidosis?

Answer 8

1. Congo red stain

2. Apple green biredfringence (polarized light)

Question 9

What is the presentation of amyloidosis?

Answer 9

1. Periorbital purpura
2. Macroglossia (Primary AL only)
3. Hepatomegaly
4. Carpal tunnel syndrome
5. Peripheral neuropathy
6. Restrictive cardiomyopathy (Primary AL only)
7. Facial/peripheral oedema
8. Frothy urine
9. Hyperlipidemia
10. Hypercoagulability – MI, DVT
11. Recurrent infection

Question 10

How does nephortic syndrome show in amyloidosis?

Answer 10

1. Protienuria >3.5g/day

2. Hypoalbuminaemia (serum <30g/L)

Question 11

What are the main types of amyloidosis?

Answer 11

1. AL = Amyloid light chain
2. AA = amyloid A
3. AF = Familial amyloidosis
4. ATTRwt = Transthyretin-related amyloidosis, wild type
5. AH = Amyloid A hereditary

Question 12

What is amyloid light chain amyloidosis?

Answer 12

• Clinical presentation: Monoclonal gammopathy

* Protein deposit = Ig/light chains

Question 13

What is amyloid A amyloidosis?

Answer 13

• Clinical presentation: Sustained chronic inflammation

* Protein deposit = Serum amyloid A

Question 14

What is familial amyloidosis?

Answer 14

• Clinical Presentation: Familiar polyneuropathy, cardiomyopathy, nephropathy
• Protein deposit: Mutant transthyrtin, A1-apolipoprotein, gelsolin, fibrinogen, lysozyme etc.

Question 15

What is ATTRwt = Transthyretin-related amyloidosis, wild type?

Answer 15

• Clinical presentation: Senile restrictive cardiomyopathy

* Protein deposit = wild type transthyretin

Question 16

What is Amyloid A hereditary?

Answer 16

• Clinical presentation: Dialysis-related

* Protein deposit = Beta-2 microglobulin