Challenges in Diagnosing Systemic Amyloidosis

The diagnosis of cardiac amyloidosis can be achieved noninvasively for transthyretin amyloid cardiomyopathy through nuclear scintigraphy with bone tracers. For other subtypes of cardiac amyloidosis (eg, light-chain amyloid cardiomyopathy), or in cases of suspected transthyretin amyloid cardiomyopathy with nondiagnostic scintigraphy results, histologic confirmation via tissue biopsy and amyloid subtype identification is required.

We present a case of a 66-year-old male with heart failure and left ventricular hypertrophy with evidence of systemic amyloidosis. Despite multiple biopsies of different organs and extensive testing, including mass spectrometry, the amyloid subtype could not be clearly identified. The patient's condition rapidly deteriorated without the initiation of targeted therapy, leading to multiple hospitalizations and an unfavorable prognosis.

This case emphasizes the diagnostic challenges in cardiac amyloidosis and highlights the importance of continuous advancements in diagnostic techniques to improve patient outcomes with this complex disease.