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.
Slider
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 recommends against 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
- Autonomic neuropathy: orthostatic hypotension, erectile dysfunction, diarrhea and/or constipation, gastroparesis, urinary dysfunction, sweating abnormalities, pupillary dysfunction and dry eye and mouth.
- Sensorimotor neuropathy: numbness, paresthesia, imbalance, weakness and atrophy.
- Autonomic, Small fiber or sensorimotor neuropathy unexplained by other causes, including diabetes.
- Abnormal nerve conduction studies/ electromyography, typically a sensory or sensorimotor neuropathy with axonal pattern.
- Carpal Tunnel Syndrome – bilateral, particularly with heart disease and a monoclonal protein
- Peripheral neuropathy with positive monoclonal gammopathy
- Rapid progression of neuropathy
- Constellation of symptoms suggesting cardiac, renal, and peripheral nervous system disease
RED FLAG SIGNS AND SYMPTOMS – OTHER
Liver Presentation
- Cholestatic (associated with raised serum alkaline phosphatase) not related to other disorders.
- Hepatomegaly not related to other disorders.
Gastrointestinal tract Presentation
- Unexplained diarrhea and/or constipation, weight loss, loss of appetite, early satiety, nausea, vomiting, abdominal pain, gastrointestinal bleeding
Other
- Easy Bleeding and bruising (associated with acquired factor X deficiency)
=============================================================================
LINK TO PUBLICATION IN BLOOD ADVANCES
=============================================================================
In addition, ASH provides a comprehensive Resource Center to support the Clinical Practice Guidelines. In this center, clinicians will find a significant library of resources including the following.
- 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.
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.
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.
Amyloidosis’ Hidden Role in Heart Failure
Heart failure is a complex and debilitating condition affecting millions of individuals worldwide. While it has several underlying causes, one often-overlooked contributor to heart failure is amyloidosis.
In this month’s piece we look to the Heart Failure Society of America and their piece titled “The Silent Intruder: Amyloidosis’ Hidden Role in Heart Failure.”
Understanding Amyloidosis
Amyloidosis is a rare but serious disease characterized by the buildup of abnormal proteins in various organs, including the heart. Amyloidosis occurs when a protein called amyloid builds up in different parts of the body, including the nervous system, tissues or even organs. These abnormal proteins (amyloids) are misfolded and can impair the normal functioning of organs, including the heart. There are different types of amyloidosis, but two forms stand out for their connection to heart failure: AL amyloidosis (immunoglobulin light chain) and ATTR amyloidosis (transthyretin). Symptoms of amyloidosis may vary, depending on which organs are affected. Signs and symptoms of amyloidosis may include:
- Severe fatigue and weakness
- Shortness of breath
- Numbness, tingling, or pain in the hands or feet (polyneuropathy)
- Swelling of the ankles and legs
- Diarrhea, possibly with blood, or constipation
- An enlarged tongue, which sometimes looks rippled around its edge
- Skin changes, such as thickening or easy bruising, and purplish patches around the eyes
Due to the similarity of these symptoms with other heart conditions, amyloidosis is often misdiagnosed or diagnosed late, emphasizing the importance of raising awareness about its hidden role in heart failure.
The Hidden Role in Heart Failure (HF)
Amyloidosis can affect the heart in several ways, leading to heart failure:
- Cardiac Amyloidosis: In cardiac amyloidosis, sometimes called stiff heart syndrome, amyloid deposits take the place of normal heart muscle, disrupting the heart’s normal structure and function. This can lead to restrictive cardiomyopathy, a condition where the heart becomes stiff and less able to pump blood effectively.
- Diastolic Dysfunction: Amyloid deposits in the heart can make it difficult for the heart to relax properly during the diastolic phase, impairing its ability to fill with blood. This diastolic dysfunction can result in heart failure with preserved ejection fraction (HFpEF).
- Arrhythmias: Amyloidosis can disrupt the heart’s electrical system, leading to arrhythmias (irregular heart rhythms) that can further exacerbate heart failure symptoms.
Diagnosing Amyloidosis
Amyloidosis can be confirmed through specialized tests, including tissue biopsies or imaging scans such as MRIs. Some cases of amyloidosis are hereditary, so if you or anyone else in your family has or had amyloidosis, it can be beneficial for you to take a genetic test to determine if you carry the gene.
Learn More About Amyloidosis
Amyloidosis, which can be a hidden contributor to heart failure, deserves greater recognition and awareness within the medical community and among patients. Timely diagnosis and appropriate management can make a significant difference in the prognosis of individuals affected by amyloidosis.
WATCH: Cardiac Amyloidosis from a Cardiologist
Dr. Barry Trachtenberg, cardiologist at Houston Cardiovascular Associates, shares ways that physicians can raise their awareness of cardiac amyloidosis, whether AL or ATTR. He discusses multiple organ systems and how test results may present clues to consider amyloidosis. He offers a diagnostic algorithm with early red flags that can aid in the identification and typing of amyloidosis. Dr. Trachtenberg concludes with keys to remember, including questions to ask patients, which can elevate the suspicion of amyloidosis.
SOURCE
Heart Failure Society of America
https://hfsa.org/silent-intruder-amyloidosis-hidden-role-heart-failure
Ejection Fraction: It’s Just a Fraction
Dr. Julie Rosenthal, Director of the Cardiac Amyloidosis Program at Mayo Clinic in Arizona, introduces us to the cardiovascular system and summarizes cardiac amyloidosis. She then discusses the echocardiogram and how it is used to look for abnormalities, such as thickening of the heart wall and pericardial effusion. Animated patient videos clearly convey how an impaired amyloid heart looks from multiple perspectives. She offers a tutorial on ejection fraction, what it is, how it is calculated, and why not all ejection fractions are the same despite the numbers. Importantly, she highlights that stroke volume is actually the more meaningful measurement of a patient’s cardiac output and why.
Weeds in the Garden: ABCs of AL Amyloidosis
Dr. Morie Gertz, hematologist, professor of medicine at the Mayo Clinic in Rochester and world renowned expert in amyloidosis, provides the ABCs of AL amyloidosis. His “Weeds in the Garden” is a legendary story explaining the biology behind this disease and how mis-folded proteins are created and evolve. He concludes with how treatments seek to deal with these mis-folded proteins and the goal of improving patients’ quality of life. This is a must-watch video for healthcare professionals from an esteemed expert.
ATTR Amyloidosis Treatments: Stabilizers and Silencers
Dr. Brett Sperry, cardiologist and director of the Cardiac Amyloidosis Program at Saint Luke’s Mid America Heart Institute, provides an excellent overview of FDA-approved ATTR amyloidosis treatments. He goes into detail about the biology behind silencers and stabilizers and exactly how they impair amyloidosis progression. In addition, he previews the future, summarizing new categories of drugs on the horizon.
Update: In November, 2024 the FDA approved Attruby (Acoramidis) for ATTR-CM (wild-type and hereditary/variant).
The future is indeed exciting!
