Amyloidosis

Amyloidosis is a group of disorders in which misfolded proteins form beta-pleated fibrils that deposit in extracellular tissues, causing organ dysfunction. Clinical types: AL (primary, light-chain from plasma-cell dyscrasia), AA (secondary to chronic inflammation/infection), hereditary (ATTR transthyretin, fibrinogen), and localized. Organs commonly involved: kidney (nephrotic syndrome), heart (restrictive cardiomyopathy), peripheral/autonomic nerves, liver, GI tract, and skin. Diagnosis by biopsy (Congo-red apple-green birefringence). Treatment targets the underlying plasma-cell/inflammatory/hereditary process; organ support/transplant when needed.

Common Symptoms

Edema/nephrotic syndrome; restrictive cardiomyopathy; peripheral/autonomic neuropathy; hepatomegaly; macroglossia; weight loss

Causes and Pathogenesis

Misfolded proteins (light chains, SAA, mutant transthyretin/fibrinogen) form insoluble beta-pleated fibrils that deposit and disrupt organ structure/function.

Treatment

Treat underlying cause (chemotherapy for AL; colchicine/IL-1 for AA; liver transplant/tafamidis for ATTR); organ support; transplant in selected

Preventive Measures

Treat chronic inflammation/infection; early biopsy of unexplained nephrotic cardiomyopathy/neuropathy; family screening.

Department to Visit

It is recommended to visit the Hematology department; an appointment can be booked on this platform before the visit.

Warm reminder: The above information is for health science reference only and cannot replace professional medical diagnosis. If you have related symptoms, please seek medical attention at a regular hospital promptly.