Amyloidosis

Question 1

Basics of amyloidosis? What about multiple proteins? Deposition?

Answer 1

Amyloid is a MISFOLDED protein that deposits in the EC space, damaging tissues;
multiple proteins can deposit as amyloid, leading to beta-pleated sheet configuration and CONGO RED staining and apple-green birefringence when seen under polarized light;
deposition systemic or localized!

Amy Tang is a merry putana who puts herself out there and gets those guys in trouble. With enough of her type, you can get her them in interesting positions and have them as red as the Congo and smelling as nice as apples under polarized light.

Question 2

How is systemic amyloidosis divided?

Answer 2

Primary and secondary (deposition in multiple organs)

Question 3

For primary amyloidosis, what does this involve? What are clinical findings?

Answer 3

1. systemic deposition of AL amyloid, which is derived from Ig light chain (associated with plasma cell dyscrasias e.g. multiple myeloma)
2. Diverse: SAA is an acute phase reactant that is increased in chronic inflammatory states, malignancy, and Familial Mediterranean fever (FMF due to dysfunction of neutrophils and occurs in persons of Mediterranean origin, presenting with episodes of fever and acute serosal inflammation, mimicking appendicitis, arthritis, or MI; high SAA during attacks deposits as AA amyloid in tissues);
   nephrotic syndrome (kidney most common organ involved), restrictive cardiomyopathy or arrhythmia, tongue enlargement, malabsorption, and HSM

Steven A Austin can get really hot in times of chronic fire, malignancy, and with his Italian background. His Italian background leaves him prone to neutorphils, so he complains of fever and something near his appendix, problems moving his joints, and even heart attack. With enough of him, you get more problems.

Later on, he noticed issues with his kidney and isn’t filling up his heart. Now he feels like he’s not getting his vitamins, he spits when he talks, and his ribs are lifted.

Question 4

Diagnosis of systemic amyloidosis requires what? Treatment?

Answer 4

Tissue biopsy: abdo fat pad and rectum are easily accessible biopsy targets;
damaged organs must be transplanted (amyloid CANNOT BE REMOVED)

Question 5

Localized amyloidosis is what?

Answer 5

Amyloid deposition usually localized to single organ

Question 6

Examples of localized amyloidosis:

Answer 6

1. senile cardiac amyloidosis: non-mutated serum transthyretin deposits in the heart; usually asymptomatic and present in 25% of individuals >80 years of age
2. familial amyloid cardiomyopathy: mutated serum transthyretin deposits in the heart leading to restrictive cardiomyopathy (5% of AA’s carry mutated gene)
3. Non-insulin-dependent diabetes mellitus: amylin deposits in the islets of the pancreas
4. Alzheimer: Abeta amyloid (from beta-amyloid precursor protein) deposits in brain forming amyloid plaques; Down syndrome patients likely to develop Alzheimer because of chromosome 21 having beta-APP gene
5. Dialysis-associated amyloidosis: beta2-microglobulin deposits in joints
6. medullary carcinoma of the thyroid: calcitonin (produced by tumor cells) deposits within the tumor