Linda, one of the ASB’s patient educators, shares highlights from her experience with carpal tunnel syndrome and a recent interaction with one of her hand surgeons.
Key take-away … biopsy the tissue from CTR surgery, as it may offer advance awareness of the disease.
Dr. Witteles, a cardiologist and co-director of the Stanford Amyloid Center, discusses genetic testing, sequencing the TTR gene, and clarifies the confusing mutation nomenclature. He details the most common of the more than 145 known hereditary mutations, the prevalence of cardiomyopathy versus neuropathy, and references studies around diagnostic factors.
Current medical education on amyloid diseases is 25 years old and materially outdated, punctuated by rapid advancement in the last five years.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.
Dr. Melissa Lyle from the Mayo Clinic offers insights into the importance of having an interdisciplinary care team across sub-specialties for amyloidosis patients. Diagnosing and treating complex diseases, such as amyloidosis, elevates the importance of alliances within the patient care team.
Patients with ATTR amyloidosis are commonly faced with neurological complications. In this presentation, Dr. Chafic Karam from the University of Pennsylvania goes through four areas: an overview of the neurological systems, how amyloid damages the nerves, neurological signs of ATTR amyloidosis, and how to detect amyloid and diagnose ATTR amyloid neuropathy.
Dr. Shari Liberman, a hand and upper extremities surgeon from Houston Methodist Orthopedics & Sports Medicine, discussed six orthopedic manifestations and their pathology as it relates to systemic amyloidosis. Published studies, coupled with her experience, has led to a belief that these manifestations can offer important evidence of amyloidosis. She concludes with thoughts regarding an orthopedic differential and biopsy considerations for each of these manifestations.
Dr. Frederick Ruberg, cardiologist at the Boston University Amyloidosis Center, discusses the diversity of racial and ethnic occurrences of amyloidosis, and why this should parallel patient representation in clinical trials. He illustrates the persistent disparities observed by race and ethnicity and how un-recognized ATTR amyloidosis, for example, could be contributing to such differences. Adding more evidence, he shares how published clinical trials of ATTR-CM agents are insufficiently diverse. He summarizes possible solutions for improving future clinical trial participation.
Dr. Grodin, a cardiologist and co-director of the UT Southwestern Multidisciplinary Amyloidosis Program, goes through the diagnostic process for AL and ATTR cardiac amyloidosis. Understanding that there are key differences and typing of amyloidosis which are paramount to consider in order to subsequently develop a treatment plan. He concludes with diagnostic algorithms to help clinicians arrive at an accurate diagnosis.
Understanding that amyloidosis exists BEFORE organs become involved is critical to developing an early diagnosis. Dr. Grodin, a cardiologist and co-director of the UT Southwestern Multidisciplinary Amyloidosis Program, discusses these early symptoms, family history, and red flags to be aware of in order to build an index of suspicion.
In this video, Mackenzie Boedicker and Dr. Betsy Mencher (caregiver for her husband) share their experiences and discuss the importance of an early and accurate diagnosis of amyloidosis.
