Amyloidosis

Background

  • Accumulation of proteins (amyloid fibrils) in tissues
  • Heart and kidneys most commonly affected organs
  • Causes:
    • Primary amyloidosis, hereditary amyloidosis
    • Secondary (due to systemic inflammatory condition)
    • ESRD-associated (caused by β2-microglobulin amyloids, not filtered out by dialysis membranes))
    • Senile amyloidosis (causes cardiac amyloid)

Clinical Features

Systemic light change amyloidosis: A. Macroglossia with lateral scalloping of the tongue. B. Bilateral periorbital purpura. C. Pseudo athletic appearance secondary to diffuse muscular infiltration. D. Voluminous hepatomegaly due to primary hepatic amyloidosis. E. Diffuse bilateral interstitial lung disease. F. Submandibular gland enlargement. G-H. Localized AL amyloidosis. G. Nodular conjunctival amyloidosis. H. Laryngeal supraglottic amyloid lump.

Differential Diagnosis

Evaluation

  • Evaluate for other causes of symptoms
  • Diagnosis via fat pad biopsy: apple-green birefringence with Congo red stain

Management

  • Varies depending on underlying etiology and organ systems involved

Disposition

See Also

External Links

References