Dr. Morie Gertz, professor of medicine at the Mayo Clinic in Rochester and world renowned expert in amyloidosis, talks about how the immune system can be harnessed in the fight against amyloidosis and multiple myeloma. He discusses two immune-directed therapies: CAR-T and Bispecific Antibodies. Dr. Gertz eloquently, and in an easy-to-understand way, summarizes the goal of immune-directed therapies and the two approaches today, including the processes, outcomes, advantages, and risks to be considered. This is a must-watch video for physicians from a legendary expert.
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ATTR Amyloidosis Treatments: Stabilizers and Silencers
Dr. Brett Sperry, cardiologist and director of the Cardiac Amyloidosis Program at Saint Luke’s Mid America Heart Institute, provides an excellent overview of FDA-approved ATTR amyloidosis treatments. He goes into detail about the biology behind silencers and stabilizers and exactly how they impair amyloidosis progression. In addition, he previews the future, summarizing new categories of drugs on the horizon.
Update: In November, 2024 the FDA approved Attruby (Acoramidis) for ATTR-CM (wild-type and hereditary/variant).
The future is indeed exciting!
AL Amyloidosis: The Past, Present, and Future
Dr. Morie Gertz, professor of medicine at the Mayo Clinic in Rochester and world renowned expert in amyloidosis, shares his views on the past, present, and future treatments of AL (light chain) amyloidosis. Over his four decades of experience with this disease, he has diagnosed and treated thousands of patients, advanced research, and managed countless clinical trials. This makes him the perfect professor to orate on the dramatic evolution of treating this historically devastating disease to the optimism of today, and the breakthrough world of tomorrow. This is a must-watch video from a legendary expert.
Amyloidosis and the Gut
Dr. Melissa Hershman, assistant professor from the OHSU Division of Gastroenterology & Hepatology, provides an informative overview of how, and where, amyloidosis can present in the G.I. tract. She reviews patient symptoms, many of which are nonspecific and can be associated with other more common issues, delaying diagnosis. Dr. Hershman goes through how G.I. amyloidosis is tested for, where in the G.I. tract biopsies are most commonly performed, and how the tissue is stained for diagnosis by pathology. In closing, she reviews the array of treatments available to assist patients.
Central Nervous System and Ocular Involvement in hATTR
Dr. Chafic Karam, professor of neurology from the University of Pennsylvania, provides an informative overview of how certain mutations of hereditary transthyretin amyloidosis are being diagnosed in the central nervous system (CNS), such as the eye. It has been long believed that amyloidosis did not cross the blood brain barrier; however, evidence is showing otherwise. In addition, while most of the transthyretin protein originates in the liver, local production is found in other areas of the body such as the brain and retina. Dr. Karam will discuss how patients might present, the developing state of diagnostics, and treatments available. A slower developing symptom, with patients now living longer he predicts neurologists will see more and more patients with CNS and ocular involvement.
Timing and co-occurrence of red-flag symptoms prior to a diagnosis of light chain (AL) amyloidosis
Dr. Anita D’Souza, associate professor of hematology and medical oncology from the Medical College of Wisconsin, discusses recent study findings regarding the timing and co-occurrence of symptoms within the three years prior to a diagnosis of light chain (AL) amyloidosis. Organized by organ system, Dr. D’Souza lists red-flag symptoms that patients may experience, typically presenting in varying combinations. Analyzing EHR records she sought to understand whether red-flag symptoms were indeed being identified, and how their occurrence would accumulate over time towards diagnosis.
Bottom line:
- This work confirms that patients are being diagnosed within the healthcare system with multiple red-flag diagnoses before AL amyloidosis is formally diagnosed.
- It is possible to catalog these diagnoses from electronic health records data and thus has the potential for earlier diagnosis of this complex disease.
- This study shows the timing and combinations between these diagnoses and lays the foundation to develop clinical algorithms aimed at earlier recognition of AL 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.
AL Amyloidosis: Symptoms, Diagnostics and Challenges
Dr. Gurbakhash Kaur, co-director of the amyloidosis program at UT Southwestern Medical Center, opens with a brief overview of the disease. Focusing on AL Amyloidosis, she shares how heterogeneously this disease presents – it can be very different from patient to patient, amplifying the diagnostic challenge. Symptoms may also be more commonly associated with other diseases. For example, proteinuria is often associated with diabetes and hypertension. However, clinicians should look at the bigger picture to be sure, as amyloidosis can also be a cause. Dr. Kaur reviews what should be in a basic workup when one has a clinical suspicion for amyloidosis. Once tested positive for amyloidosis, a second necessary step is to determine the type of amyloidosis. This is critical as it will determine the appropriate course of treatment. In closing Dr. Kaur summarizes the goals of treatment, what is available today, and what drugs are in clinical trials, giving lots of hope to the AL amyloidosis community.
Diagnosing Amyloidosis: From Cardiology to Neurology – When to Think About Amyloidosis
Dr. J. Mark Sloan, Associate Professor of Medicine, Boston University Chobanian & Avedisian School of Medicine. He is a member of the BU Amyloidosis Center, the Evans Center for Interdisciplinary Biomedical Research at BU, and the program director for the hematology/oncology fellowship at Boston University. In this video, developed exclusively for the Amyloidosis Speakers Bureau, he provides a comprehensive clinical overview of diagnosing amyloidosis, from cardiology to neurology, and when to think about amyloidosis.