Amyloidosis

Question 1

What is an amyloid?

Answer 1

Misfolded protein that deposits in extracellular space

Question 2

For a protein to be considered an amyloid what characteristics it must have?

Answer 2

B pleated sheet configuration

Question 3

How are amyloids seen in histology?

Answer 3

Congo red stain and apple green birefringence under polarized lights

Question 4

Most common place where amyloids deposits?

Answer 4

Around blood vessels

Question 5

What are the types of systemic amyloidosis?

Answer 5

Primary and secondary amyloidosis

Question 6

In Primary amyloidosis what type of amyloid is deposit

Answer 6

AL amyloid

*** from the light chain of Ig

Question 7

Mechanism of plasma cell dyscrasia generates amyloidosis

Answer 7

1, Plasma cell overproduction of Ig light chain

2. Leak into blood
3. Gets misfold
4. Deposits in tissue

Question 8

In secondary amyloidosis what type of amyloid is deposit

Answer 8

AA amyloid

** derivates form SAA

Question 9

What is SAA?

Answer 9

Acute phase reactant

Question 10

In which circumustances there is an increase of SAA?

Answer 10

Chronic inflammation (LES, chrons disease, colitis, chronic osteomyelitis)
Malignancy
Familial Mediterranean Fever

Question 11

What is Familial Mediterranean Fever

Answer 11

Autosomical recessive dysfunction of neutroplis that occurs in person of mediterranean origins

Question 12

Clinical presentation of Familial Mediterranean Fever

Answer 12

Episodes of fever + Acute serosal inflammation

Question 13

Type of amyloid found in Familial Mediterranean Fever

Answer 13

AA amyloid

Question 14

Most common organ where amyloidosis takes place?

Answer 14

Kidney

Question 15

Classic clinical finding of amyloidosis?

Answer 15

Nephrotic syndrome
restrictive cardiomyopathy or arrhythmia
Tongue enlargement, malabsorption, hepatosplenomegaly

Question 16

Patient with posible diagnosis of amyloidosis. How do you confirm the diagnosis?

Answer 16

Tissue biopsie

** Accesible targets: Abdominal fat pad and rectum

Question 17

T/F: Damaged organ of amyloidosis gets back to normal once the treatment is started

Answer 17

False

Amyloid cant be removes– organ must be transplanted in systemic amyloidosis

Question 18

6 Examples of localized amyloidosis

Answer 18

1. Senile cardiac amyloidosis
2. Familial amyloid cardiomyopathy
3. NIDDM
4. Alzheimer disease
5. Dyalisis associated amyloidosis
6. Medullary carcinoma of thyroid

Question 19

Type of amyloid found in Senile Cardiac amyloidosis

Answer 19

Non mutated serum transthyretin deposits in heart

*** Elderly, asx

Question 20

Type of amyloid found in Familial Amyloid cardiomyophathy

Answer 20

Mutated serum transthyretin deposits in heart

** Afroamericans, restrictive cardiomyopathy

Question 21

Type of amyloid found in NIDDM?

Answer 21

Amylin deposits in islets of pancreas

*** derived from insulin

Question 22

Type of amyloid found in Alzheimer disease?

Answer 22

AB amyloid deposits in brain

*** Derives from B amyloid precursor protein

Question 23

Why patients with down syndrome can have early on set of alzheimer?

Answer 23

• Down syndrome( 2 copies of chromosome 21)
• In chromosome 21 there is the gene that produces amyloid precursor protein
• Increase Ab amyloid that deposits in brain

Question 24

Type of amyloid found in Dyalisis associated mayloidosis

Answer 24

B2 microgloblin deposits in joints

*** it isn’t well filtered in dyalisis, so it accumulates in joints

Question 25

Function of B2 microglobulin

Answer 25

Molecule that provides structural support for MHC class I

Question 26

Pte with thyroid mass, a fine needle aspiration if performed. the pathologist see tumor cells in amyloid background? DX and type of protein

Answer 26

Dx: Medullary carcinoma of thyroid

Type of amyloid: Calcitonin