Amyloidosis notes

Amyloidosis Notes

Definition

Amyloidosis is a rare disease caused by the accumulation of abnormal protein fibrils (amyloid) in tissues and organs, leading to dysfunction. The condition can be systemic or localized.


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Types of Amyloidosis

1. Primary (AL) Amyloidosis

Most common form.

Caused by abnormal light chains produced by plasma cells (associated with multiple myeloma).

Affects the heart, kidneys, liver, nervous system, and gastrointestinal (GI) tract.



2. Secondary (AA) Amyloidosis

Results from chronic inflammatory diseases (e.g., rheumatoid arthritis, tuberculosis, inflammatory bowel disease).

Serum amyloid A (SAA) protein accumulates.

Commonly affects the kidneys, liver, and spleen.



3. Hereditary (ATTR) Amyloidosis

Caused by mutations in the transthyretin (TTR) gene.

Affects nerves, heart, and kidneys.



4. Dialysis-Related Amyloidosis (Aβ₂M)

Due to β₂-microglobulin accumulation in patients on long-term dialysis.

Affects bones, joints, and tendons.



5. Localized Amyloidosis

Deposits occur in single organs, such as the brain (Alzheimer’s disease), pancreas (Type 2 diabetes), or skin.





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Organs Commonly Affected & Symptoms


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Diagnosis

1. Biopsy – Congo red stain shows apple-green birefringence under polarized light.


2. Serum & Urine Protein Electrophoresis (SPEP, UPEP) – Detects abnormal light chains.


3. Immunofixation Electrophoresis (IFE) – Identifies specific amyloid proteins.


4. Serum Free Light Chain Assay – Assesses monoclonal light chain production.


5. Echocardiogram & Cardiac MRI – Evaluates cardiac involvement.


6. Genetic Testing – For hereditary forms.


7. SAP Scintigraphy – Identifies systemic amyloid deposits.




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Treatment

AL Amyloidosis:

Chemotherapy (e.g., bortezomib, dexamethasone, cyclophosphamide)

Stem cell transplantation


AA Amyloidosis:

Treat underlying inflammatory disease (e.g., biologics like TNF inhibitors)


ATTR Amyloidosis:

Tafamidis, patisiran, inotersen (TTR stabilizers & silencers)

Liver transplant for hereditary cases


Dialysis-Related Amyloidosis:

Optimize dialysis

Kidney transplant


Supportive Therapy:

Diuretics for heart failure

Blood pressure management

Pain management for neuropathy




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Let me know if you need more details on any specific aspect!


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