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Expert Insights: 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Current medical education on amyloid diseases is 25 years old and materially outdated, punctuated by rapid advancement in the last five years.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.

Expert Insights: 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.

AL and ATTR Amyloidosis: Recognition and Diagnosis — The Key to Successful Treatment

Dr. Heather Landau, Associate Attending Physician at Memorial Sloan Kettering, provides a comprehensive clinical overview of amyloidosis. Spanning recognition and diagnosis – the key to successful treatment.

 

Expert Insights: Amyloidosis – A Brief Clinical Overview

Dr. Sarah S. Lee, Assistant Professor, Division of Hematology, at the City of Hope, provides a brief yet comprehensive clinical overview of amyloidosis. In this video Dr. Lee discusses the breadth of amyloidosis, the wide range of symptom presentations, and which organs are typically involved. Focusing on AL (light chain) and TTR (transthyretin) types, she then goes through a diagnostic workup to arrive at a diagnosis, stressing the importance of typing once the presence of amyloid has been confirmed. Concluding her overview, Dr. Lee describes treatments available and how they impact patient prognosis and quality of life.

 

Cardiac Amyloidosis – AL and ATTR: Two Different Conditions

Dr. Mazen Hanna, cardiologist at the Cleveland Clinic and co-director of the Amyloid Program, explains how cardiac amyloidosis can originate from two very different types of amyloidosis: AL or ATTR. Dr. Hanna illustrates how physicians can identify cardiac amyloidosis and look to different diagnostic work-ups to understand whether the issues are due to AL or ATTR amyloidosis. These two conditions are treated differently and have different prognoses, emphasizing the importance of understanding the type of amyloidosis involved.

Orthopedic Manifestations in Amyloidosis

Dr. Mazen Hanna, cardiologist at the Cleveland Clinic and co-director of the Amyloid Program, discusses orthopedic manifestations in amyloidosis. Increasingly, such manifestations are known to be associated with multiple orthopedic pathologies and recognized as a missed opportunity for earlier diagnosis of transthyretin (ATTR) amyloidosis. He recounts the development of a pioneering study connecting carpal tunnel release surgery and amyloidosis. Dr. Hanna concludes this presentation with patient cases and the importance of biopsying tenosynovial tissue from CTR surgery; it’s easy, quick, and inexpensive.

Cardiac Clues that Suggest Transthyretin Amyloidosis – Part I

In part 1 of a 2-part series, Dr. Keyur Shah, cardiologist from VCU Health’s cardiac amyloidosis care team, discusses the two most common types of transthyretin (TTR) amyloidosis: hereditary and wild-type. He details how ATTR cardiomyopathy amyloidosis presents and manifests itself to impair the heart. Dr. Shah lists clinical clues, “red flags,” and biomarkers which can raise suspicion of the presence of amyloidosis. Next he discusses insights that can be gained from echocardiograms, electrocardiograms, and cardiac MRIs and how they offer possible indicators of the disease presence. Once amyloidosis is suspected, definitive diagnosis testing is next.  See Part II: “Clinical Signs that Suggest Transthyretin Amyloidosis: Non-cardiac Clues” for more information.

Clinical Signs that Suggest Transthyretin Amyloidosis: Non-cardiac Clues – Part II

In part 2 of a 2-part series, Sarah Paciulli, Heart Failure Nurse Practitioner from VCU Health’s cardiac amyloidosis care team, continues from where Dr. Keyur Shah ended in Part I and discusses here in Part II the non-cardiac clues of transthyretin (TTR) amyloidosis. She expands the list of clinical clues and “red flags” that clinicians should be alert to, including orthopedic manifestations, erectile dysfunction, and polyneuropathy.  See Part I: “Cardiac Clues that Suggest Transthyretin Amyloidosis” for more.

 

Closing the Underdiagnosed Gap of Transthyretin Cardiac Amyloidosis in African Americans

Dr. Kevin Alexander, advanced heart failure and transplant cardiologist at the Stanford Amyloid Center, discusses transthyretin cardiac amyloidosis (ATTR-CM) and how today this is a “common rare disease,” more prevalent than previously appreciated. He summarizes findings from a study to understand diagnosis across the U.S. and how ATTR-CM disproportionately affects black individuals. This statistic is driven by the belief that 3-4% of African descendants carry the V122I TTR variant – translating to over 1 million carriers. Kevin offers a screening algorithm for who to screen for ATTR-CM, and examines sub-groups of African Americans that are important not to overlook.

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