Case of the Month #56 The Protein Puzzle: A Case of Progressive Multi-Organ Dysfunction

Published 03/04/2025

What are the common clinical manifestations of amyloidosis?

Manifestations vary based on the type of amyloidosis and organs involved:

Cardiac involvement

  • Restrictive cardiomyopathy with heart failure
  • Conduction abnormalities and arrhythmias
  • Orthostatic hypotension due to autonomic dysfunction
  • Intolerance to standard heart failure medications

Renal involvement

  • Proteinuria, often in nephrotic range
  • Progressive renal impairment
  • Higher risk with AL amyloidosis

Neurological involvement

  • Peripheral sensorimotor neuropathy
  • Autonomic neuropathy
  • Carpal tunnel syndrome (often preceding diagnosis by years)

Gastrointestinal involvement

  • Macroglossia
  • GI bleeding
  • Malabsorption, altered motility
  • Hepatomegaly with abnormal LFTs

Skin manifestations

  • Periorbital purpura ("raccoon eyes")
  • Waxy papules/nodules
  • Easy bruising