Exploring the clinical clues of amyloidosis with Dr. Michelle Kittleson, including diagnostic challenges and treatment options. Delving into the intricacies of cardiac amyloidosis, diagnostic clues, and advancements in therapy. Discussing the challenges of diagnosing and managing medical conditions, emphasizing the importance of clinical suspicion and individualized therapies.
Key to diagnosing amyloidosis lies in recognizing clinical clues and red flags like left ventricular wall thickness and autonomic dysfunction.
Treatment of amyloidosis varies based on type, with AL managed by hematologists and ATTR by cardiologists using tafamidis and emerging therapies.
Challenges in diagnosing and treating amyloidosis include interpreting complex test results, high treatment costs, and coexistence with age-related conditions.
Deep dives
Diagnosing Amyloidosis
Amyloidosis is a condition where proteins in the body fold abnormally and deposit as fibrils in tissues. The two main types of amyloidosis are AL amyloidosis, associated with plasma cell dyscrasias, and ATTR amyloidosis, which can be either the wild type or caused by a genetic mutation. The key to diagnosing amyloidosis is recognizing the clinical clues and red flags, such as increased left ventricular wall thickness without hypertensive history, peripheral neuropathy, orthopedic manifestations like carpal tunnel syndrome and spinal stenosis, and autonomic dysfunction. A negative monoclonal protein screen and positive technetium scan can support a diagnosis of ATTR amyloidosis.
Treatment Options
The treatment approach for amyloidosis depends on the type. For AL amyloidosis, the primary care physician works closely with a hematologist to address the underlying plasma cell dyscrasia. They focus on managing fluid balance and optimizing treatment to improve the patient's heart failure symptoms. In contrast, for ATTR amyloidosis, the cardiologist takes the lead and stabilizing the protein. The FDA-approved medication, tafamidis, is used to stabilize the transthyretin protein and prevent disease progression. There are also other therapies being explored, such as silencers that stop protein production and monoclonal antibodies that target and remove amyloid fibrils from tissues. It's important to continuously monitor and adapt treatment based on the patient's response and disease progression.
Diagnostic Challenges and Affordability
Diagnosing and treating amyloidosis can be challenging. Clinical expertise is needed to interpret complex test results, such as monoclonal protein screening and technetium scans. Access to clinical trials and specialized care is often recommended. The cost of treatment, especially for tafamidis, can be significant, with prices exceeding $200,000 per year. Patient assistance programs and insurance negotiations may help make the medication more affordable, but access to treatment can still be a barrier for some patients.
The coexistence of TTR amyloidosis and other conditions in older people
In this podcast episode, it is highlighted that TTR amyloidosis often coexists with other age-related conditions in older individuals. The speaker emphasizes the importance of considering TTR amyloidosis when patients present with decompensated heart failure with preserved ejection fraction. The episode discusses a case series where approximately 15% of patients with decompensated heart failure were found to have TTR amyloidosis. The main insight is that recognizing the coexistence of TTR amyloidosis with other conditions can lead to appropriate treatment for both conditions, improving patient outcomes.
Diagnosing and managing amyloidosis
The podcast episode provides insights into the diagnostic and management approach for amyloidosis. The importance of ordering the right tests in the correct sequence is emphasized, such as immunofixational electrophoresis of serum and urine, serum free light chains capolamment assay, and technetium pyrophosphate scan. The episode cautions against relying solely on fat pad and bone marrow biopsies for diagnosis, particularly for TTR amyloidosis. The speaker also highlights the use of tafamidis as the evidence-based and FDA-approved treatment for amyloidosis, with no reported significant side effects. Additionally, the challenges of managing neuropathy and autonomic dysfunction in amyloidosis patients are discussed, along with considerations for anticoagulation and guideline-directed medical therapy.
The clinical picture of an underrecognized disease
Amyloidosis demystified. Learn the clinical clues that suggest possible amyloidosis and how to order the correct tests to diagnose this disease. We are joined by Dr. Michelle Kittleson who shows us the ropes of treating fibril accumulation, @MKittlesonMD (Cedars Sinai).
Differential Diagnosis of Heart Failure with Preserved Ejection Fraction
Understanding Amyloidosis
Clinical Clues and Red Flags for Amyloidosis
Physical Examination Findings
Workup for Amyloidosis
Treatment Options
AL Amyloidosis and Hematologist's Role
ATTR Amyloidosis and Cardiologist's Role
Other Therapies for TTR Amyloidosis
Therapy on the Horizon
Cost and Access to Tafamidis
Alternative Therapies and Supplements
Monitoring and Side Effects of Tafamidis
Symptomatic Management and Anticoagulation
Take Home Points
Credits
Written and Produced by; Deborah Gorth, MD, PhD
Infographic and Cover Art: Meryl Gorth, RD, MPH and Deborah Gorth, MD, PhD
Hosts: Matthew Watto MD, FACP; Paul Williams MD, FACP
Reviewer: Sai S. Achi MD MBA
Showrunners: Matthew Watto MD, FACP; Paul Williams MD, FACP
Technical Production: PodPaste
Guest: Michelle Kittleson, MD, PhD
Transcript Disclaimer
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Sponsor: Panacea
