1.5 Amyloidosis

Question 1

Amyloid

Answer 1

Misfolded protein that deposits in the extracellular space

Question 2

What is the protein configuration of amyloid?

Answer 2

Beta-pleated sheet

Question 3

What are the lab characteristics of amyloid?

Answer 3

Stain with Congo red and show apple-green birefringence under polarized light

Question 4

Where does amyloid tend to deposit?

Answer 4

Around blood vessels

Question 5

What are the 2 types of systemic amyloidosis?

Answer 5

Primary

Secondary

Question 6

Primary Amyloidosis

Answer 6

Systemic amyloid deposition derived from Ig light chain

Question 7

What is primary amyloidosis associated with?

Answer 7

Plasma Cell Dyscrasias (abnormalities)

Question 8

Secondary Amyloidosis

Answer 8

Systemic deposition of AA amyloid that is derived from SAA which is an acute phase reactant

Question 9

What is secondary amyloidosis associated with?

Answer 9

Chronic inflammatory states - malignancy, familial Mediterranean fever, chronic osteomyelitis

Question 10

Famililal Mediterranean Fever

Answer 10

Dysfunction of neutrophils that presents with fevers and involves serial surfaces with high SAA levels during attacks

Question 11

What are the classical clinical findings of amyloidosis?

Answer 11

• Nephrotic Syndrome - kidney is most common organ involved

- Restrictive Cardiomyopathy - can cause arrhythmia

Question 12

How is amyloidosis diagnosed?

Answer 12

Tissue biopsy of the abdominal fat pad or the rectum to visualize the amyloid

Question 13

Localized Amyloidosis

Answer 13

Amyloid deposition in a single organ

Question 14

What will be found in Senile Cardiac Amyloidosis?

Answer 14

Normal Serum Transthyretin

Question 15

Who is senile cardiac amyloidosis seen in?

Answer 15

Seen in 25% of people over the age of 80 and is asymptomatic

Question 16

Familial Amyloid Cardiomyopathy

Answer 16

Mutated serum transthyretin deposition that leads to restrictive cardiomyopathy

Question 17

What population is at increased risk for carrying the gene for familial amyloid cardiomyopathy?

Answer 17

5% of African Americans carry it

Question 18

Non-Insulin Dependent Type II - Diabetes Mellitus

Answer 18

Amylin deposits in the islets of the pancreas which is derived from insulin

Question 19

Alzheimer’s Disease

Answer 19

Aß amyloid deposits in the brain forming amyloid plaques and is derived from ß-amyloid precursor protein on Chromosome 21

Question 20

What is Alzheimer’s disease associated with?

Answer 20

Down Syndrome

Question 21

Dialysis Associated Amyloidosis

Answer 21

ß2-microglobulin deposits in the joints which builds up in the blood from dialysis

Question 22

Medullary Carcinoma of the Thyroid

Answer 22

Tumor of C cells leading to excess calcitonin production and calcitonin deposits in the tumor