Amyloidosis

Question 1

amyloidosis

Answer 1

Uncommon disorder caused by extracellular deposition of insoluble abnormal proteins forming amyloid fibrils

Problem is with the improper folding of insoluble fibrils

Question 2

MC presentation of amyloidosis

Answer 2

Renal and cardiac symptoms

Can also see in internal organs (liver, thyroid, spleen) as well on skin

Question 3

Cardiac symptoms of amyloidosis

Answer 3

Heart failure, conduction disorders (AV block, SA node problems)

RESTRICTIVE cardiomyopathy (unable to dilate)

Question 4

Amyloidosis Kidney symptoms

Answer 4

Proteinuria (sometimes to nephrotic range)

Can cause CKD (up to ESRD)

Question 5

Classification of amyloidosis

Answer 5

Based on the specific type of protein

1. AL (light chain)
2. AA (serum A protein)
3. ATTR (transthyretin protein)

Question 6

Suspect renal amyloidosis if:

Answer 6

1. Significant proteinuria
2. Develop of nephrotic syndrome
3. CKD severe w/o obvious precipitate factors (i.e. Diabetes)

Question 7

Diagnostic work up of renal amyloidosis

Answer 7

24hr urine collection (quantify proteinuria)

Renal biopsy (apple green with Congo red stain)

Question 8

Diagnostic work up of cardiac amyloidosis

Answer 8

Echocardiogram (diagnose restricted cardiomyopathy)

Cardiac muscle biopsy (apple green with Congo red stain)

Question 9

Suspect cardio amyloidosis if

Answer 9

Unexplained cardiomyopathy

Question 10

Alternative diagnostic procedures for amyloidosis

Answer 10

Abdominal fat biopsy

Question 11

MC amyloidosis in the developed world

Answer 11

AL

50-80 y/o, 2/3 male

Question 12

AL

Answer 12

Over production of Ig light chains by plasma cells that cause misfolding and deposit as amyloid

Occur on own or in conjunction with multiple myeloma

Question 13

AL disease manifestations (5)

Answer 13

1. Renal (renal, CKD, proteinuria)
2. Cardiac (restrictive CM, arrhythmia)
3. GI (non specific, nausea, diarrhea, constipation, weight loss)
4. Nervous system (peripheral neuropathy, autonomic neuropathy, orthostasis)
5. Shoulder enlargement, purpura

Question 14

AA amyloidosis

Answer 14

Rxn to another illness (chronic inflammation, infection)

Causes liver to produce excess SAA protein

AA of SAA will separate and form deposits

MC type in developing world

Question 15

Underlying disorders that can cause AA Amyloidosis

Answer 15

Rheumatologic dz
IBD
Chronic infection (HIV, TB)
Malignancies

Question 16

AA manifestations

Answer 16

Renal disease
Enlargement of liver, spree, thyroid
NS
Cardiac dz

Question 17

AA treatment

Answer 17

Treat underlying disease to prevent new amyloid fibrils from forming

Question 18

Dialysis related amyloidosis

Answer 18

Fibrils via beta-2 microflobuli

Accumulation in ESRD,

Commonly report shoulder pain , carpal tunnel syndrome

Question 19

Hereditary amyloidosis

Answer 19

Genetic mutation that produces abnormal protein folding

TTR or non-TTR

Tested early, but can’t recent

Same presentation

Question 20

Wild type amyloidosis

Answer 20

Aka systemic senile amyloidosis

Systemic deposition of TTR w/o genetic mutation

Men in their 80s (but can be 60s, 70s)

MC Symptom is cardiac involvement