1.5 Amyloidosis

Question 1

Amyloidosis

• divided into two categories
• name examples of each

Answer 1

1. systemic
   - Primary amyloidosis (deposition of AL amyloid–Ig light chain)
   - Secondary amyloidosis (deposition of SAA)
2. localized
   - Senile cardiac amylodosis
   - familial amyloid cardiomyopathy
   - T2DM
   - alzheimer’s
   - dialysis
   - thyroid, medullary carcinoma

Question 2

Amyloid

-describe its structure and lab identification

Answer 2

Beta-pleated protein, deposits in extracellular space.

stains Congo red,

apple greed birefringence on polarized light

Question 3

Primary amyloidosis

• mech
• assoc with what

Answer 3

• deposition of AL amyloid (Ig light chain)
• assoc with plasma cell dyscrasias (multiple myeloma)–overproduction of light chain

Question 4

secondary amyloidosis

• mech
• assoc with what? (3)

Answer 4

• SAA–serum amyloid associated protein
• acute phase reactant, increased in:
  1. chronic inflammation
  2. cancer
  3. Familial Mediterranean fever (FMF)

Question 5

Systemic amyloidosis

• classically invades what? (2)
• 3 other common symptoms

Answer 5

1. nephrotic syndrome
2. restrictive cardiomyopathy
   - tongue enlargement, malabsorption, hepatosplenomegaly

Question 6

Familial Mediterranean fever (FMF)

• mech
• presentation

Answer 6

a secondary amyloidosis, systemic.

• dysfunction of neutrophils leads to high SAA deposition (serum amyloid association protein)
• fever, acute serosal inflamm. (can mimic appendicitis and MI!)

Question 7

What can mimic appendicitis and MI?

Answer 7

secondary amyloidosis from Familial Mediterranean Fever

Question 8

Systemic amyloidosis

• how to dx, where to biopsy
• tx

Answer 8

• Congo red stain, apple green birefringence on polarized light
• biopsy from abdominal fat pad and rectum are easy targets
• Must transplant damaged organs

Question 9

Systemic vs localized amyloidosis

-difference

Answer 9

localized is only 1 organ

Question 10

Senile cardiac amyloidosis

• mech
• presentation
• population

Answer 10

• serum transthyretin (2nd most common blood protein), non mutated. deposits in heart
• usu ASYMPTOMATIC.
• present in 25% of individuals >80

Question 11

Familial amyloid cardiomyopathy

• mech
• presentation
• population

Answer 11

• serum transthyretin (mutated) deposits in heart
• restrictive cardiomyopathy
• 5% of african americans carry gene

Question 12

Amyloidosis related to T2DM

-describe it

Answer 12

-Amylin (derived from insulin) deposits in islet cells of pancreas

Question 13

Dialysis associated amyloidosis

• name the amyloid
• deposits where?

Answer 13

• Beta-2 microglobulin
• joints

Question 14

Thyroid mass, amyloidosis

-what is the association?

Answer 14

Medullary carcinoma of thyroid (C cells that make calcitonin)

-Calcitonin deposits within the tumor