Pathogenesis and Pathology of Amyloidosis
Organ-Specific Amyloid Deposition and Consequences
Amyloidosis is a disorder characterized by abnormal protein deposits in organs, leading to dysfunction. Understanding organ-specific amyloid deposition is crucial for diagnosis and management.
Pathogenesis and Pathology of Amyloidosis
Organ-Specific Amyloid Deposition and Consequences
Amyloidosis is a group of diseases characterized by extracellular deposition of misfolded amyloid proteins in various organs, leading to progressive dysfunction.
Pathogenesis
The pathogenesis of amyloidosis involves misfolded protein accumulation due to genetic mutations, chronic inflammatory conditions, or defective protein degradation mechanisms.
Organ-Specific Amyloid Deposition
- Cardiac Amyloidosis: Leads to restrictive cardiomyopathy and heart failure.
- Renal Amyloidosis: Causes proteinuria and progressive renal failure.
- Neurological Amyloidosis: Associated with peripheral neuropathy and autonomic dysfunction.
- Hepatic and Gastrointestinal Amyloidosis: Causes hepatomegaly and malabsorption.
Diagnosis and Management
Diagnostic techniques include histopathology with Congo red staining, immunohistochemistry, and mass spectrometry for amyloid subtype identification. Management involves targeted therapy such as tafamidis for transthyretin amyloidosis and chemotherapy for AL amyloidosis.
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