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Amyloidosis as a Systemic Disease in Context.

Sarah A M Cuddy1, Rodney H Falk2

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Systemic amyloidoses, including transthyretin (ATTR) and light-chain (AL) amyloidosis, often affect the heart. Recognizing noncardiac symptoms can lead to earlier diagnosis and improved management of cardiac involvement.

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Area of Science:

  • Cardiology
  • Nephrology
  • Neurology

Background:

  • Systemic amyloidoses involve protein misfolding and deposition in organs.
  • Transthyretin amyloidosis (ATTR) and light-chain amyloidosis (AL) are common forms, frequently impacting the heart.
  • Cardiac amyloidosis presents as infiltrative cardiomyopathy with restrictive pathophysiology.

Purpose of the Study:

  • To highlight noncardiac manifestations of AL and TTR amyloidosis.
  • To assist cardiologists in earlier diagnosis of cardiac amyloidosis.
  • To discuss treatment challenges and the importance of precise typing and multidisciplinary care.

Main Methods:

  • Review of noncardiac manifestations of AL and TTR amyloidosis.
  • Discussion of diagnostic aids for cardiac amyloidosis.
  • Analysis of treatment complexities in patients with coexisting noncardiac conditions.

Main Results:

  • Noncardiac signs like periorbital purpura (AL) or carpal tunnel syndrome/ruptured biceps tendon (ATTR) can indicate amyloidosis.
  • Early recognition of these signs aids in diagnosing cardiac involvement.
  • Concomitant noncardiac diseases (e.g., nephrotic syndrome, autonomic neuropathy) complicate treatment.

Conclusions:

  • Noncardiac manifestations are crucial for early diagnosis of systemic amyloidoses, particularly cardiac involvement.
  • Accurate typing of amyloidosis and a multidisciplinary approach are essential for effective therapy.
  • Addressing challenges posed by noncardiac comorbidities improves patient outcomes.