VJHemOnc Podcast Diagnosing amyloidosis: identifying early signs, appropriate diagnostic tests, and challenges that remain
Jun 14, 2025
Morie Gertz, a leading amyloidosis expert from the Mayo Clinic, discusses the complex world of diagnosing this rare disease. He highlights early signs often missed by clinicians and elaborates on the key differences between light chain and ATTR subtypes. The conversation dives into diagnostic challenges, the role of advanced imaging, and the importance of a holistic approach to patient care. Gertz also explores emerging therapies and the significance of timely diagnosis to prevent irreversible organ damage.
AI Snips
Chapters
Transcript
Episode notes
Systems Approach to Early Diagnosis
- Amyloidosis symptoms like fatigue and edema are highly nonspecific, making early diagnosis challenging.
- Incorporating immunoglobulin-free light chain assay systematically in cardiology, nephrology, and neurology can improve detection.
Differing Presentations of Amyloidosis
- ATTR amyloidosis often presents first as bilateral carpal tunnel syndrome years before heart or nerve symptoms.
- AL amyloidosis is systemic, affecting multiple organs, while ATTR mainly affects heart and nerves.
Essential Diagnostic Workup
- For suspected amyloidosis, order serum immunofixation and free light chain assays early.
- AL amyloidosis diagnosis often requires biopsy; TTR amyloidosis can be diagnosed non-invasively with PYP scanning and genetic testing.