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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.

Expert Insights: What is the Relationship between AL Amyloidosis and Multiple Myeloma?

While both AL Amyloidosis and Multiple Myeloma are plasma cell disorders and share similar patient care treatments, they diverge in pathogenic mechanisms. In this presentation, Dr. Giada Bianchi from Brigham & Women’s Amyloidosis Program shares that 10-15% of Multiple Myeloma patients will experience overlapping AL Amyloidosis, elevating the importance of understanding the similarities and differences in diagnostic criteria and patient care.

Expert Insights: Why is Amyloidosis Bad for Your Kidneys?

One of the organs most frequently impacted by amyloidosis is the kidney. Dr. Jeffrey Zonder from the Karmanos Cancer Institute provides a brief summary of amyloidosis and the most common types of this disease. From there, he goes on to describe how AL (Light Chain) and AA ((Apo)serum Amyloid A) are the two most prevalent types to affect the kidneys, detail how amyloidosis affects the kidneys, how this damage is assessed, and strategies for reducing kidney damage.

Expert Insights: Why is amyloidosis so often misdiagnosed?

Dr. Angela Dispenzieri from the Mayo Clinic discusses why amyloidosis is often misdiagnosed. The complexity of the disease and commonality of symptoms are two of the reasons she examines. In addition, she offers guidance on appropriate diagnostic pathways.

Expert Insights: The Future for Patients with Transthyretin Cardiac Amyloidosis is Looking Brighter

The treatment for patients with Transthyretin Cardiac Amyloidosis has advanced significantly since 2018 when there were no FDA-approved therapies. In this presentation, Dr. Mat Maurer from Columbia University shares how diagnostic imaging techniques have significantly improved, thereby reducing the need for an invasive heart biopsy. In addition, he shares fascinating statistics on how the age and stage of diagnosis has been evolving. Based on today’s clinical trials, providers are optimistic that the expansion of options for patient care will continue.

The future is indeed looking brighter.

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