Amyloidosis

1. **What is the defining structural feature of amyloid proteins?**

A. α-helix configuration
B. β-pleated sheet configuration
C. Triple helix structure
D. Random coil structure
E. Disulfide bond formation

2. **Which staining method is used to identify amyloid deposits under polarized light?**
A. Hematoxylin and eosin (H&E)
B. Periodic acid-Schiff (PAS)
C. Congo red
D. Gram stain
E. Ziehl-Neelsen stain

3. **What microscopic feature is observed when amyloid is stained with Congo red and viewed
under polarized light?**
A. Red birefringence
B. Blue birefringence
C. Apple-green birefringence
D. Yellow birefringence
E. No birefringence

4. **Which type of amyloid is associated with plasma cell dyscrasias such as multiple myeloma?
A. AA amyloid
B. AL amyloid
C. Aβ amyloid
D. Transthyretin amyloid
E. Amylin amyloid

5. **What is the precursor protein for AA amyloid?**

A. Immunoglobulin light chain
B. Serum amyloid-associated protein (SAA)
C. β-amyloid precursor protein (β-APP)
D. Transthyretin
E. Calcitonin

6. **Which of the following conditions is most likely to lead to secondary amyloidosis?**

A. Multiple myeloma
B. Chronic inflammatory states
C. Alzheimer disease
D. Medullary carcinoma of the thyroid
E. Type II diabetes mellitus

7. **Which of the following is a characteristic clinical feature of systemic amyloidosis?**

 A. Hyperthyroidism
B. Nephrotic syndrome
C. Polycythemia
D. Hypercalcemia
E. Hypoglycemia

8. **What is the most common organ involved in systemic amyloidosis?**

A. Liver
B. Heart
C. Kidney
D. Spleen
E. Brain

9. **Which of the following is a classic finding in systemic amyloidosis involving the heart?**
A. Dilated cardiomyopathy
B. Restrictive cardiomyopathy
C. Hypertrophic cardiomyopathy
D. Arrhythmogenic right ventricular cardiomyopathy
E. Myocarditis

10. **What is the best site for a biopsy to diagnose systemic amyloidosis?**
A. Brain
B. Heart
C. Abdominal fat pad
D. Liver
E. Thyroid

11. **Familial Mediterranean Fever (FMF) is associated with the deposition of which type of
amyloid?**
A. AL amyloid
B. AA amyloid
C. Aβ amyloid
D. Transthyretin amyloid
E. Amylin amyloid

12. **Which of the following is true about senile cardiac amyloidosis?**

A. It is caused by mutated transthyretin.
B. It is most common in individuals under 50 years of age.
C. It is usually asymptomatic.
D. It is associated with plasma cell dyscrasias.
E. It leads to dilated cardiomyopathy.

13. **Which population has a 5% carrier rate for the mutated gene causing familial amyloid
cardiomyopathy?**
A. Mediterranean populations
B. African Americans
 C. East Asians
D. Northern Europeans
E. South Asians

14. **In non-insulin-dependent diabetes mellitus (type II), which protein forms amyloid deposits
in the pancreas?**
A. Immunoglobulin light chain
B. Serum amyloid-associated protein (SAA)
C. Amylin
D. Transthyretin
E. Calcitonin

15. **Which of the following is a hallmark feature of Alzheimer disease?**

A. Deposition of AL amyloid in the brain
B. Deposition of Aβ amyloid in the brain
C. Deposition of transthyretin in the heart
D. Deposition of amylin in the pancreas
E. Deposition of β2-microglobulin in joints

16. **What is the genetic basis for the early onset of Alzheimer disease in individuals with
Down syndrome?**
A. Mutation in the β-APP gene
B. Trisomy 21 (extra copy of chromosome 21)
C. Autosomal recessive inheritance
D. Autosomal dominant inheritance
E. Mitochondrial DNA mutation

17. **Which of the following is a feature of dialysis-associated amyloidosis?**

A. Deposition of AL amyloid in the kidneys
B. Deposition of AA amyloid in the liver
C. Deposition of β2-microglobulin in joints
D. Deposition of transthyretin in the heart
E. Deposition of calcitonin in the thyroid

18. **In medullary carcinoma of the thyroid, which protein forms amyloid deposits within the
tumor?**
A. Immunoglobulin light chain
B. Serum amyloid-associated protein (SAA)
C. Amylin
D. Transthyretin
E. Calcitonin

19. **What is the histological appearance of medullary carcinoma of the thyroid?**

A. Tumor cells in a fibrous background
B. Tumor cells in an amyloid background
C. Tumor cells in a mucinous background
 D. Tumor cells in a necrotic background
E. Tumor cells in a lymphoid background

20. **Which of the following is a treatment option for systemic amyloidosis?**

A. Removal of amyloid deposits
B. Organ transplantation
C. Antibiotic therapy
D. Radiation therapy
E. Chemotherapy alone

21. **A 65-year-old man presents with nephrotic syndrome, restrictive cardiomyopathy, and
macroglossia. Biopsy of the abdominal fat pad shows apple-green birefringence under polarized
light. What is the most likely diagnosis?**
A. Multiple myeloma
B. Systemic lupus erythematosus
C. Systemic amyloidosis
D. Familial Mediterranean fever
E. Tuberculosis

22. **A 50-year-old woman of Mediterranean descent presents with recurrent episodes of fever,
abdominal pain, and joint pain. Genetic testing confirms a mutation in the MEFV gene. What is
the most likely complication of this condition?**
A. AL amyloidosis
B. AA amyloidosis
C. Aβ amyloidosis
D. Transthyretin amyloidosis
E. Amylin amyloidosis

23. **A 70-year-old man with a history of long-term hemodialysis presents with joint pain and
stiffness. Biopsy of the affected joint shows amyloid deposits. What is the most likely type of
amyloid involved?**
A. AL amyloid
B. AA amyloid
C. Aβ amyloid
D. β2-microglobulin
E. Transthyretin

24. **A 45-year-old man presents with progressive memory loss and cognitive decline. Brain
imaging shows amyloid plaques. What is the most likely type of amyloid involved?**
A. AL amyloid
B. AA amyloid
C. Aβ amyloid
D. Transthyretin amyloid
E. Amylin amyloid
25. **A 60-year-old woman presents with a thyroid mass. Biopsy reveals tumor cells in an
amyloid background. What is the most likely diagnosis?**
A. Papillary carcinoma of the thyroid
B. Follicular carcinoma of the thyroid
C. Medullary carcinoma of the thyroid
D. Anaplastic carcinoma of the thyroid
E. Hashimoto thyroiditis

26. **A 55-year-old man with a history of type II diabetes mellitus presents with pancreatic
dysfunction. Biopsy of the pancreas shows amyloid deposits. What is the most likely protein
involved?**
A. Immunoglobulin light chain
B. Serum amyloid-associated protein (SAA)
C. Amylin
D. Transthyretin
E. Calcitonin

27. **A 30-year-old African American man presents with restrictive cardiomyopathy. Genetic
testing reveals a mutation in the transthyretin gene. What is the most likely diagnosis?**
A. Senile cardiac amyloidosis
B. Familial amyloid cardiomyopathy
C. Dialysis-associated amyloidosis
D. Medullary carcinoma of the thyroid
E. Alzheimer disease

28. **Which of the following is true about the pathogenesis of amyloidosis in Alzheimer
disease?**
A. It is caused by deposition of AL amyloid.
B. It is caused by deposition of Aβ amyloid derived from β-APP.
C. It is caused by deposition of transthyretin.
D. It is caused by deposition of amylin.
E. It is caused by deposition of β2-microglobulin.

29. **Which of the following is a key difference between AL amyloidosis and AA amyloidosis?
**
A. AL amyloidosis is associated with chronic inflammation, while AA amyloidosis is
associated with plasma cell dyscrasias.
B. AL amyloidosis is derived from immunoglobulin light chains, while AA amyloidosis is
derived from serum amyloid-associated protein (SAA).
C. AL amyloidosis is localized, while AA amyloidosis is systemic.
D. AL amyloidosis is diagnosed by brain biopsy, while AA amyloidosis is diagnosed by kidney
biopsy.
E. AL amyloidosis is reversible, while AA amyloidosis is irreversible.

30. **Which of the following is a feature of familial amyloid cardiomyopathy?**

A. It is caused by deposition of AL amyloid.
 B. It is most common in individuals of Mediterranean descent.
C. It is associated with plasma cell dyscrasias.
D. It leads to restrictive cardiomyopathy.
E. It is diagnosed by brain biopsy.

Answers
1. B
2. C
3. C
4. B
5. B
6. B
7. B
8. C
9. B
10. C
11. B
12. C
13. B
14. C
15. B
16. B
17. C
18. E
19. B
20. B
21. C
22. B
23. D
24. C
25. C
26. C
27. B
28. B
29. B
30. D