Amyloidosis: a unifying diagnosis for nephrotic syndrome and congestive cardiac failure

Jaskanwal Deep Singh Sara1, Ryan Khodadadi2, Dylan Barth3

  • 1Division of Cardiovascular Diseases, Mayo Clinic, Rochester, Minnesota, USA.

BMJ Case Reports
|August 29, 2018
PubMed

Insights

Diagnosing heart failure or nephrotic syndrome requires identifying underlying causes like amyloidosis. This case highlights amyloid light-chain (AL) amyloidosis presenting with fluid overload, cardiac, and renal symptoms.

Area of Science:

  • Nephrology
  • Cardiology
  • Hematology

Background:

  • Diagnoses of heart failure and nephrotic syndrome are often insufficient without identifying underlying etiologies.
  • Amyloidosis, a rare disease group, involves abnormal amyloid fibril deposition in organs.
  • Clinical presentation varies based on affected organ systems.

Observation:

  • Symptoms can include breathlessness and fluid overload, mimicking cardiac and renal conditions.
  • Gastrointestinal involvement may present as diarrhea and weight loss.
  • The authors report a case of congestive cardiac failure and nephrotic proteinuria.

Findings:

  • The patient exhibited persistent fluid overload.
  • The underlying cause was identified as amyloid light-chain (AL) amyloidosis.
  • This underscores the importance of investigating rare causes for complex presentations.

Implications:

  • Clinicians must consider amyloidosis in patients with unexplained heart failure or nephrotic syndrome.
  • Early diagnosis of AL amyloidosis is crucial for timely management and improved patient outcomes.
  • This case emphasizes the systemic nature of amyloidosis and its diverse clinical manifestations.

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