Amyloidosis Summary
Group of disorders associated with extracellular deposition of fibrils formed from low-molecular-weight proteins in a β-pleated sheet configuration
Diagnosis:
1) clinical suspicion
2) visualization of the protein
3) characterization of the precursor
4) identification of the extent of disease
Clinical Manifestations:
• RENAL: Nephrotic syndrome -> Proteinuria, Can detect early if there is a "protein-albumin" dissociation in urine
• CARDIAC: LVH, low-voltage EKG, & restrictive cardiomyopathy
• GI: diarrhea. malabsorption, and pseudo-obstruction. Hepatosplenomegaly & hepatic failure. GI bleeding
• NEURO: Orthostatic hypotension, autonomic neuropathy; neuropathy causing paresthesias, Ischemic stroke
• BONE/JOINT: Amyloid arthropathy, Carpal tunnel syndrome
• MUSCLES: Infiltration of muscles
• SKIN: Periorbital purpura and macroglossia
• NAILS: Dystrophy
• HEME: ↓ activity of factor X, vascular Infiltration with amyloid
• (AMYLOID ANGIOPATHY)
Diagnostic Testing:
• Blood Tests:
- SPEP with Serum immunofixation
- Free light-chain assay, troponin, NT-proBNP
- Creatinine, albumin, alkaline phosphatase, uric acid
• Urine Tests:
- UPEP with Urine Immunofixation
- Tissue biopsy-Congo red
- Amyloid typing
• Cardiac Testing:
- EKG
- Echocardiogram with Doppler imaging: normal-size ventricles with disproportionate bi-atrial enlargement
- MRI of the heart
• GI Tests:
- Diagnostic imaging of liver and spleen
- Fecal fat measurements
- Serum carotene levels
• Nerve Tests:
- Nerve conduction studies
- Other: Serum amyloid P scintigraphy
• Biopsies
- Congo red:apple-green birefringence under polarized light microscopy
- Immunohistochemical staining: Light-chain nature of the amyloid.
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