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What are the Clinical Features of Systemic Amyloidosis?

Delayed diagnosis of amyloidosis, which pushes back the start of treatment, increases the mortality risk and negative quality of life for patients. It is one of the biggest issues for this disease today. Dr. Joselle Cook, hematologist from the Mayo Clinic, and Dr. Hira Shaikh, hematologist from the University of Iowa Healthcare, discuss the findings from a systematic scoping review they led during the two-year development of the American Society of Hematology AL Amyloidosis Guidelines. It was identified relatively early on that a gap exists as to WHEN clinicians could begin to suspect systemic amyloidosis and WHAT were early signs and symptoms that clinicians may see that could prompt testing for the disease. This is a must-watch video for all frontline clinicians, regardless of specialty.

 

To read the paper associated with this video:

“Clinical Features of Systemic Amyloidosis: A Scoping Review”

To read the paper associated with the same ASH (American Society of Hematology) 2-year project:

“2026 Guidelines on Diagnosis of Light Chain Amyloidosis”

 

Systemic Amyloidosis: You’ve Got to Think of IT to Diagnose IT

Dr. Mat Maurer, cardiologist at Columbia University Irving Medical Center, discusses the importance of developing a broad differential in order to diagnose this rare, potentially life-threatening, yet treatable disease. He shares a typical but unfortunate case of cardiac amyloidosis, along with statistics of misdiagnosis and delayed diagnosis. He shares his view on the appropriate process for diagnosis based on Dr. David Eddy’s 1982 New England Journal of Medicine piece “The Art of Diagnosis” and the need to create a broad enough differential in order to consider less common diseases such as systemic amyloidosis. Dr. Maurer lists common reasons for missing diagnosis of cardiac amyloidosis all clinicians should be aware of, punctuated by his concluding point … “The Key to Correct Treatment is Diagnosis, Diagnosis, and Diagnosis.” It’s simple … you cannot treat what has not been diagnosed.

 

This is a MUST VIEW video for clinicians who diagnose patients, regardless of sub-specialty.

The Systemic Amyloidoses vs. Parkinson’s vs. Alzheimer’s

Current medical education on amyloid diseases is 25 years old and materially outdated, punctuated by rapid advancement in the last five years. Hear from renowned Dr. Jeff Kelly from Scripps Research, developer of ATTR drug tafamidis, about the current biology and how amyloid diseases such as the Systemic Amyloidoses (ATTR and AL), Parkinson’s and Alzheimer’s are today believed to be more similar than different.

 

For those interested in learning more about neurodegenerative diseases driven by amyloid protein misfolding, below is an excellent video from May 17, 2024 by Dr. Kelly.

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