What are the Clinical Features of Systemic Amyloidosis?
Delayed diagnosis of amyloidosis, which pushes back the start of treatment, increases the mortality risk and negative quality of life for patients. It is one of the biggest issues for this disease today. Dr. Joselle Cook, hematologist from the Mayo Clinic, and Dr. Hira Shaikh, hematologist from the University of Iowa Healthcare, discuss the findings from a systematic scoping review they led during the two-year development of the American Society of Hematology AL Amyloidosis Guidelines. It was identified relatively early on that a gap exists as to WHEN clinicians could begin to suspect systemic amyloidosis and WHAT were early signs and symptoms that clinicians may see that could prompt testing for the disease. This is a must-watch video for all frontline clinicians, regardless of specialty.
Patient Insights: Getting Older May Not Be the Reason
Our patient speakers at the Amyloidosis Speakers Bureau are powerful educators and offer compelling insights. Have a listen to this brief clip from Joan. She talks about how her doctor attributed her symptoms to her age, even though she was convinced something was wrong.
Navigating Mental Health Challenges in Cardiac Amyloidosis
Dr. David Rintell is a licensed psychologist with experience working with individuals and families living with long-term illness. In this video Dr. Rintell, in his personal expert capacity, explores what we know about mental health, depression, and anxiety in those with cardiac amyloidosis. He offers two items to screen for depression, how it may impact caregivers as well, and treatment considerations. In closing, he discusses how quality of life is often impacted and ways to address it.
Light Chain (AL) Amyloidosis Clinical Practice Guidelines – American Society of Hematology 2026
The American Society of Hematology (ASH) has released new Clinical Practice Guidelines on the diagnosis of light chain (AL) amyloidosis, a rare and life-threatening bone marrow disorder. The guidelines present 12 evidence-based recommendations designed to help clinicians and facilitate early and accurate diagnosis of AL amyloidosis. Participating in the two-year research was a large group of multi-disciplinary amyloidosis experts, as well as Deb Boedicker from Mackenzie’s Mission/Amyloidosis Speakers Bureau. Below we summarize the 12 recommendations, followed by a link to the full publication. In addition, at the end you’ll find a link to a comprehensive Resource Center which support these Clinical Practice Guidelines.
The primary goals of these guidelines are to review, critically appraise and implement evidence-based recommendations that will enhance early detection, timeliness and accuracy of diagnosis of AL amyloidosis. Through improved provider and patient education of the available evidence and creation of evidence-based recommendations, these guidelines aim to provide clinical decision support that will result in clear diagnostic decision making with known potential outcomes and enable timely diagnosis of AL amyloidosis by multidisciplinary teams.
ENHANCING CLINICAL SUSPICION
Should serum and urine immunofixation (SIFE and UIFE) and serum free light chains (sFLC) be used to increase suspicion of AL amyloidosis in individuals with cardiac symptoms? Recommendation 1
For individuals with suspected cardiac amyloidosis, the ASH Guideline Panel recommends the use of serum and urine immunofixation (SIFE and UIFE) and serum free light chain (sFLC) assay to increase clinical suspicion of cardiac AL amyloidosis.
Should serum and urine immunofixation (SIFE and UIFE) and serum free light chains (sFLC) be used to increase suspicion of AL amyloidosis in individuals with unexplained proteinuria? Recommendation 2
For individuals with unexplained proteinuria, the ASH Guideline Panel suggests performing paraprotein testing (SIFE/UIFE/sFLC) to increase clinical suspicion of AL amyloidosis.
Should cardiac MRI (CMR) be used to diagnose cardiac AL amyloidosis in individuals suspected of having cardiac amyloidosis (positivity in any of the following studies: SIFE, UIFE, or sFLC, abnormal cardiac biomarkers, and non-diagnostic echocardiographic findings)? Recommendation 3
For individuals with positivity in any of the following studies SIFE, UIFE, or sFLC, and abnormal cardiac biomarkers, and non-diagnostic echocardiography, the ASH Guideline Panel suggests performing cardiac magnetic resonance (CMR) rather than not performing CMR to increase clinical suspicion of cardiac amyloidosis.
Should cardiac MRI (CMR) be used to diagnose cardiac AL amyloidosis in individuals with abnormal cardiac biomarkers, echocardiography, and positivity in any of the following studies: SIFE, UIFE, or sFLC? Recommendation 4
For individuals with positivity in any of the following studies SIFE, UIFE, or sFLC, and abnormal cardiac biomarkers, and echocardiography consistent with amyloidosis, the ASH Guideline Panel suggests against performing cardiac magnetic resonance (CMR) and instead performing tissue biopsy to diagnose cardiac AL amyloidosis.
DIAGNOSIS
Should Bone Scintigraphy with technetium 99m – pyrophosphate (PYP), technetium 99 m – 3, 3 diphosphono –1,2 propranodicarboxylic (DPD) and technetium 99 m-hydroxymethylene Diphosphonate (HMDP) be used to diagnose amyloidosis in suspected individuals? Recommendation 5
For individuals with a suspicion of AL amyloidosis, the ASH Guideline Panel recommendsagainst the use of bone scintigraphy (PYP, DPD, HMDP) for the diagnosis of AL cardiac amyloidosis.
Should Bone Scintigraphy (PYP, DPD, HMDP) be used to diagnose ATTR amyloidosis in suspected individuals? Recommendation 6
For patients without evidence of a plasma cell disorder (normal serum free light chain levels and no monoclonal proteins on serum and urine immunofixation) and suspicion of cardiac amyloidosis, the ASH Guideline Panel recommends the use of bone scintigraphy (PYP, DPD, HMDP) for the diagnosis of Cardiac ATTR amyloidosis.
Should surrogate biopsy vs. cardiac biopsy be used to diagnose AL amyloidosis in individuals suspected to have cardiac amyloidosis? Recommendation 7
For individuals with suspected AL cardiac amyloidosis with abnormal cardiac biomarkers, diagnostic echocardiogram, and positivity in any of the following studies: SIFE, UIFE, or sFLC, the ASH Guideline Panel suggests either starting with performing both fat pad sampling and bone marrow biopsy or with endomyocardial biopsy.
Should surrogate biopsy vs renal biopsy be used to diagnose AL amyloidosis in individuals suspected to have renal amyloidosis? Recommendation 8
For individuals with suspected light chain renal amyloidosis and positivity in any of the following studies SIFE, UIFE, or sFLC, the ASH Guideline Panel suggests starting with performing both abdominal fat pad sampling and bone marrow biopsy over renal biopsy.
Should surrogate biopsy vs. peripheral nerve biopsy be used to diagnose AL amyloidosis in individuals suspected to have neurological amyloidosis? Recommendation 9
For individuals with a monoclonal gammopathy and generalized small or large fiber peripheral neuropathy or autonomic neuropathy suspected of having AL amyloidosis, the ASH Guideline Panel suggests performing both fat pad sampling and bone marrow biopsy over nerve biopsy.
Should surrogate biopsy vs target organ biopsy be used to diagnose AL amyloidosis in individuals suspected to have AL amyloidosis with multiorgan presentation? Recommendation 10
For individuals with suspected multiorgan AL amyloidosis, the ASH Guideline Panel suggests starting with surrogate biopsies (combination of fat pad sampling and bone marrow biopsy) over target organ biopsy if surrogate biopsies can be performed expeditiously. If endomyocardial biopsy or renal biopsy are more feasible than fat pad sampling and bone marrow biopsy, these symptomatic target tissues should be preferentially biopsied.
Should Congo Red Staining on bone marrow biopsy that has already been performed be used to diagnose AL amyloidosis in individuals with Multiple Myeloma and Smoldering Myeloma? Recommendation 11
For individuals with plasma cell dyscrasias (multiple myeloma and smoldering multiple myeloma), the ASH Guideline Panel suggests performing Congo red staining on bone marrow biopsies that may have already been performed.
ORGAN INVOLVEMENT
In individuals with AL amyloidosis with no cardiac symptoms, should clinicians use cardiac biomarkers/investigations [BNP, NT-proBNP, troponin (I,C,T, Highly Sensitive), 2D Echo with strain, Cardiac MRI] or not to evaluate for cardiac involvement? Recommendation 12
For individuals with proven AL amyloidosis and with no cardiac symptoms, the ASH Guideline Panel recommends performing cardiac biomarkers (high sensitivity troponin, and BNP or NT-proBNP) and cardiac imaging rather than not performing these tests to define the presence and extent of cardiac involvement at diagnosis.
KEY CONCLUSIONS
The use of serum immunofixation, urine immunofixation and serum free light chains enhances the clinical suspicion of AL amyloidosis. The diagnosis of AL amyloidosis can be made effectively through surrogate biopsies which require both a bone marrow biopsy and fat pad sampling. However, target organ biopsies may be favoured in certain clinical situations.
Overarching good practice statements:
1. The ASH panel agreed that it is essential to assess for major organ involvement in patients with confirmed AL amyloidosis, as this guides further management and risk stratification.
2. A multidisciplinary team is typically required for the timely and accurate diagnosis and management of AL amyloidosis.
The red flag signs and symptoms provide a summarized way to elevate suspicion and hopefully accelerate the diagnostic timeline.
RED FLAG SIGNS AND SYMPTOMS FOR CARDIAC INVOLVEMENT
HFpEF (heart failure with preserved ejection fraction)
Moderate or Severe LVH in absence of a significant history of untreated hypertension on imaging.
Echocardiogram: Severe left ventricular hypertrophy, advanced diastolic dysfunction, reduced left ventricular global longitudinal strain with an apical sparing pattern
EKG/Arrhythmia: Low voltage and/or discordance between voltage on EKG and left ventricular wall thickness on imaging, pseudo-infarct pattern, and arrhythmias including atrial fibrillation, heart block, and ventricular tachycardia/ventricular fibrillation
Elevated biomarkers (Troponin and NT-Pro BNP) in absence of CAD
Constellation of symptoms suggesting cardiac, renal, and peripheral nervous system disease
Low Flow, Low Gradient Aortic Stenosis
RED FLAG SIGNS AND SYMPTOMS FOR RENAL INVOLVEMENT
Inability to tolerate ACE/ARB
Change in hypertension status unexplained by medication i.e. intolerance/hypotension on previously tolerated therapy.
Unexplained proteinuria (albumin predominant) without diabetes (or not thought to be related to be diabetes or any other reason) and positive laboratory tests (monoclonal proteins and/or abnormal light chains (must be clonal or above renal limits)
Proteinuria in diabetic with positive monoclonal protein
RED FLAG SIGNS AND SYMPTOMS FOR NEUROLOGICAL INVOLVEMENT
Small fiber neuropathy: pain and temperature impairments, allodynia and hyperalgesia
A snapshot of the ASH Clinical Practice Guidelines — “Diagnosis of Light Chain (AL) Amyloidosis: What You Should Know”
What it covers
Why it matters
Who it affects
What are the highlights
A Disease State Infographic
A Visual Summary: a concise visual aid intended to support understanding of the recommendations and to aid in clinical decision-making.
A Pocket Guide: a brief, evidence-based pocket guide intended to help physicians provide quality care to patients.
Teaching Slides: educational slides intended to teach about the diagnosis of amyloidosis.
Audit Report: A set of metrics intended to assess compliance with the ASH Clinical Practice Guidelines on Diagnosis of Light Chain Amyloidosis. This audit report can be used to identify quality gaps at your institution and improve care for patients with light chain amyloidosis.
Our patient speakers at the Amyloidosis Speakers Bureau are powerful educators and offer compelling insights. Have a listen to this brief clip from Sean. He talks about how his PCP and those around him suggested his symptoms were all in his head, and that an appropriate next step would be to see a therapist.
Behind the Counter, Beside the Bed: The Real World of Pharmacy
Ever wonder what truly happens after your doctor writes a prescription? In this episode of Medically Speaking, Dr. Eve Glazier sits down with oncology pharmacist Melissa Dinolfo, who devoted 42 years to pharmacy across retail, hospital, and cancer care, to reveal the unseen world of “the pharmacy behind the scenes.”
From hand-filled prescriptions to modern, evidence-driven oncology, Melissa traces the evolution of pharmacy and explains how medications move from lab to patient. She breaks down how pharmacists dose safely, navigate insurance barriers, manage side effects, and advocate for patients, and why they remain some of healthcare’s most essential partners. She also shares practical advice on how patients can work effectively with their pharmacist, ask the right questions, and make the most of their medications.
Whether you’ve picked up a prescription at a big-box pharmacy or received life-changing therapy in a hospital, this episode offers a new appreciation for the people who make your medicines possible and guidance for becoming a more empowered partner in your own care.
🎧 Tune in to learn how pharmacy really works and why pharmacists deserve a front-row seat in the conversation about your health.
Podcast Credits UCLA Health Medically Speaking with Dr. Eve Glazier
Kidney Transplantation for Patients with AL Amyloidosis
Dr. Heather Landau, Director of the Amyloidosis Program at Memorial Sloan Kettering, gives an excellent lecture on why now is the time to consider kidney transplantation for AL amyloidosis patients. She details why the determination is complex and weighty, while offering the offsetting balance of daily and long-term implications of renal replacement therapy. Dr. Landau goes on to discuss “Why now?”, pre-transplant evaluation, and which AL amyloidosis patients would lead the kidney transplant consideration. She concludes the lecture with post-transplant management/follow-up recommendations.
Patient Insights: My Doctor’s Persistence Kept Me Going
Our patient speakers at the Amyloidosis Speakers Bureau are powerful educators and offer compelling insights. Have a listen to this brief clip from Rayna. She talks about how her doctor’s persistence and unwillingness to give up gave her great strength to keep going.
Accelerating the Diagnosis of Cardiac Amyloidosis with AI
What is Cardiac Amyloidosis?
According to the University of Chicago, “Cardiac amyloidosis is a heart condition in which abnormal proteins build up in the heart muscle, making it stiff and impairing its ability to pump blood. Multiple life-prolonging drug treatments for this condition have recently become available, but without early diagnosis, physicians miss out on opportunities to extend patients’ survival and quality of life.”
“Unfortunately, cardiac amyloidosis can be challenging to diagnose, because it’s often difficult to distinguish from other heart issues without a burdensome amount of testing,” explained co-lead author Jeremy Slivnick, MD, a cardiologist at the University of Chicago Medicine.
The Promise of AI
AI is improving cardiac amyloidosis diagnosis by using algorithms to analyze medical imaging and data, which can lead to earlier and more accurate detection than traditional methods. These tools can automatically analyze echocardiograms, electrocardiograms (ECGs), and scintigraphy scans to identify the disease, which is crucial for timely treatment because new therapies are most effective in the early stages. Some AI models are FDA-cleared and are being implemented in clinical settings.
How AI is used in diagnosing cardiac amyloidosis
Echocardiography: AI tools can analyze echocardiogram videos to detect signs of cardiac amyloidosis with high accuracy, outperforming traditional scoring methods.
Electrocardiogram (ECG): AI-enhanced ECG models can identify patients at high risk for cardiac amyloidosis, helping to flag them for further evaluation and monitor disease progression during treatment.
Scintigraphy: AI systems can analyze nuclear medicine scintigraphy scans to automatically detect cardiac amyloidosis, performing as reliably as medical experts.
Infrared Spectroscopy: A new method uses infrared imaging to identify the molecular “fingerprints” of amyloidosis-causing proteins. AI is used to analyze these fingerprints, providing a faster, non-invasive alternative to biopsies.
Benefits of using AI
Earlier detection: AI can identify the disease at an earlier stage, which is critical for starting treatment when it is most effective.
Improved accuracy: AI tools have shown high sensitivity and specificity in detecting amyloidosis, sometimes outperforming current clinical practices.
Increased efficiency: Some AI systems can provide results within minutes, speeding up the diagnostic process and integrating seamlessly into clinical workflows.
Reduced costs and invasiveness: AI has the potential to reduce reliance on expensive or invasive procedures, like biopsies, especially when used to screen patients.
Broader access: The broad applicability of AI to common tests like echocardiograms and ECGs means it can be implemented in many clinical settings.
Limitations and future directions
Need for prospective validation: While promising, AI models still require more testing in clinical practice to understand their full capabilities and limitations.
Data and transparency: Challenges remain, including the need for more diverse data and improving the transparency of AI decision-making.
Widespread implementation: While some AI tools have received FDA clearance and are being implemented, widespread use in routine care is still a future goal.
Ultromics’ EchoGo Amyloidosis Tool
Researchers from Mayo Clinic and Ultromics, with investigators at the University of Chicago Medicine and collaborators around the world, validated and tested EchoGo Amyloidosis on a large and multiethnic patient population and compared its abilities to other diagnostic methods for cardiac amyloidosis.
“Their findings, published in the European Heart Journal, show that the AI model was highly accurate, with 85% sensitivity (correctly identifying those with the disease) and 93% specificity (correctly identifying those without the disease). Using a single echocardiography videoclip, the model was effective across all major types of cardiac amyloidosis and distinguished it from other conditions with similar characteristics.”
An Example of AI Integrated Into Workflow at the City of Hope
Hear from Dr. Faizi A. Jamal, Chief, Division of Cardiology and Director, Non-Invasive Cardiology Laboratory at the City of Hope National Medical Center who has been at the forefront of evaluating the clinical utility of AI based review of echocardiography in the diagnosis of cardiac amyloidosis. In this video he shares his experience with Ultromics’s EchoGo Amyloidosis, and how the City of Hope has incorporated this into their clinical workflow. He discusses the typical initial reasoning for ordering echocardiograms, which is to understand the severity of issues such as HFpEF or Aortic Stenosis, and how AI can take the analysis further to explore whether cardiac amyloidosis may be an underlying cause of the condition. Dr. Jamal discusses the multiple clinical challenges to diagnosing cardiac amyloidosis and details the numerous benefits experienced from the AI based review of echocardiograms. “EchoGo Amyloidosis is going to be revolutionary, based upon the volume of undiagnosed patients that are out there. It’s going to undoubtedly detect patients and impact morbidity and mortality for this disease.”
Kamel MA, Abbas MT, Kanaan CN, Awad KA, Baba Ali N, Scalia IG, Farina JM, Pereyra M, Mahmoud AK, Steidley DE, Rosenthal JL, Ayoub C, Arsanjani R. How Artificial Intelligence Can Enhance the Diagnosis of Cardiac Amyloidosis: A Review of Recent Advances and Challenges. J Cardiovasc Dev Dis. 2024 Apr 13;11(4):118. doi: 10.3390/jcdd11040118. PMID: 38667736; PMCID: PMC11050851.
Ultromics EchoGo Amyloidosis The first FDA-cleared, AI-based screening tool designed to help identify patients at risk of cardiac amyloidosis from an echocardiogram.
Clinical Utility of AI Based Review of Echocardiography for Diagnosis of Cardiac Amyloidosis
Dr. Faizi A. Jamal, Chief, Division of Cardiology and Director, Non-Invasive Cardiology Laboratory at the City of Hope National Medical Center has been at the forefront of evaluating the clinical utility of AI based review of echocardiography in the diagnosis of cardiac amyloidosis. In this video he shares his experience with Ultromics’s EchoGo Amyloidosis, and how the City of Hope has incorporated this into their clinical workflow. He discusses the typical initial reasoning for ordering echocardiograms, which is to understand the severity of issues such as HFpEF or Aortic Stenosis, and how AI can take the analysis further to explore whether cardiac amyloidosis may be an underlying cause of the condition. Dr. Jamal discusses the multiple clinical challenges to diagnosing cardiac amyloidosis and details the numerous benefits experienced from the AI based review of echocardiograms. “EchoGo Amyloidosis is going to be revolutionary, based upon the volume of undiagnosed patients that are out there. It’s going to undoubtedly detect patients and impact morbidity and mortality for this disease.”
Click HERE, or on graphic below to view Dr. Jamal’s video.
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