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.
Spinal Stenosis & Amyloidosis
WHAT IS SPINAL STENOSIS?
Spinal stenosis is narrowing of the spinal column that causes pressure on the spinal cord, or narrowing of the openings (called neural foramina) where spinal nerves leave the spinal column.
This can develop as you age from drying out and shrinking of the disk spaces. (The disks are 80% water.) The narrowing can cause compression on nerve roots resulting in pain or weakness of the legs. If this happens, even a minor injury can cause inflammation of the disk and put pressure on the nerve. You can feel pain anywhere along your back or leg(s) that this nerve supplies.1
SYMPTOMS1
Symptoms often get worse slowly over time. Most often, symptoms will be on one side of the body, but may involve both legs. Symptoms include:
Numbness, cramping, or pain in the back, buttocks, thighs, or calves, or in the neck, shoulders, or arms
Symptoms are more likely to be present or get worse when you stand or walk. They often lessen or disappear when you sit down or lean forward. Most people with spinal stenosis cannot walk for a long period. More serious symptoms include:
Difficulty or poor balance when walking
Problems controlling urine or bowel movements
A POTENTIAL CLUE TO AMYLOIDOSIS?
Amyloid is a very common finding in cartilage and ligaments of elderly subjects, and transthyretin has been demonstrated in some deposits. Lumbar spinal stenosis is also a condition of usually elderly individuals in whom narrowing of the lumbar spinal canal leads to compression of nerves to the lower limbs.
“Another very important historical clue is spinal stenosis, and actually that’s much more commonly seen in patients with ATTR than AL, and in fact, again, almost exclusively in wild type,” according to Dr. Mazen Hanna2
WHAT IS SENILE, AKA WILD-TYPE, AMYLOIDOSIS (ATTRwt)?
Amyloidosis is a generic name for a very diverse group of protein folding disorders, all characterized by creation of cross-beta-sheet fibrils. At least 30 different human proteins have been shown to form amyloid fibrils in vivo (7). Two main groups of amyloid conditions exist: systemic and localized. In the systemic conditions, deposits occur in many organs and tissues, and the diseases are usually life-threatening; in each of these diseases one out of at least 15 plasma proteins forms amyloid fibrils far from the place of parent protein synthesis. In the localized conditions, the proteins are expressed at the site of deposition (8). In both groups, fibrils usually deposit extracellularly and can form conspicuous masses that deform a tissue and interfere with its normal functions.5
Senile systemic amyloidosis (SSA), derived from wild-type transthyretin (TTR), is common in association with aging, although symptom-giving disease usually is comparably rare and affects males at least 10 times more often than women. Restrictive cardiomyopathy is the main clinical expression. However, carpal tunnel syndrome is common in SSA, and widely spread wild-type ATTR amyloid deposits at other connective tissue sites have been demonstrated (25).5
Joint cartilage and ligaments are targets of both localized and systemic amyloid. Of the systemic forms, Aβ2-microglobulin [for nomenclature, see (7)] amyloidosis is well-known to engage skeletal and joint structures in patients under hemodialysis due to renal insufficiency (9-13). Also, immunoglobulin light chain (AL) amyloidosis is known to generate a variety of symptoms from joints and skeleton, sometimes with neural lesions. Carpal tunnel syndrome is often noted in transthyretin (ATTR) and Aβ2-microglobulin amyloidosis (15–17).5
HEAR FROM AN EXPERT ON MUSCULOSKELETAL SYMPTOMS RELATED TO AMYLOIDOSIS
Dr. Shari Liberman, a hand and upper extremities surgeon from Houston Methodist Orthopedics & Sports Medicine, discusses 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.
CONCLUSION
From the studies referenced therein, results suggest that transthyretin-derived amyloid deposits may occur more frequently in various ligaments and tendons than originally expected3 and that lumbar spinal stenosis quite frequently may be a consequence of senile systemic amyloidosis [also known as wild-type amyloidosis; ATTRwt]5.
Stay suspicious. It’s more common than you may think.
Sueyoshi T, Ueda M, Jono H, Irie H, Sei A, Ide J, Ando Y, Mizuta H. Wild-type transthyretin-derived amyloidosis in various ligaments and tendons. Hum Pathol. 2011 Sep;42(9):1259-64. doi: 10.1016/j.humpath.2010.11.017. Epub 2011 Feb 21. PMID: 21334722.
Westermark P, Westermark GT, Suhr OB, Berg S. Transthyretin-derived amyloidosis: probably a common cause of lumbar spinal stenosis. Ups J Med Sci. 2014;119(3):223-228. doi:10.3109/03009734.2014.895786
The annual Boston Globe Rare Disease Day Summit is a day of curated, in-person thought leadership addressing how Boston companies are tackling rare diseases and helping patients who are afflicted by them. Over 1,000 were expected to attend this virtual event on February 24, 2026.
During the morning session, Mackenzie and Deb Boedicker from Mackenzie’s Mission joined Gianluca Pirozzi from Alexion for a panel session titled “Living It, Leading It: When Lived Rare Disease Experience Becomes Professional Purpose”
Many patients, caregivers and professionals in the rare disease community often carry their personal experiences into their work, influencing how they approach care, advocacy, research and industry. This panel centered on shared lived experience as a catalyst for purpose and action across the rare disease ecosystem. Featuring perspectives from a patient turned healthcare provider, a parent and nonprofit leader, and an industry executive and caregiver, panelists will share how lived experience has shaped their professional paths. Through personal stories, the discussion explored where the system continues to fall short and what must change to create a more connected and responsive future for rare disease patients and their families.
As the lead sponsor of this event, it was an opportunity to highlight Alexion’s leadership and commitment to advancing rare disease care, while connecting directly with the people whose lives are shaped by this work. Thank you, Alexion!
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.
Amyloidosis can indeed be found in the eye according to Dr. Chafic Karam, professor of neurology from the University of Pennsylvania. In addition, while most of the transthyretin protein originates in the liver, local production is found in other areas of the body such as the brain and retina.
AMYLOIDOSIS
Amyloidosis is a rare disease that happens when abnormal transthyretin proteins called amyloid build up in different parts of the body, including the eye and surrounding areas.
Some people develop localized amyloidosis, meaning the protein buildup only affects the eye. Others have systemic amyloidosis, where amyloid deposits form in multiple organs, including the kidneys and heart. Systemic amyloidosis can increase the risk of kidney damage and heart failure.
HOW AMYLOIDOSIS CAN AFFECT THE EYE
Amyloidosis can affect multiple structures of the eye including the eyelids, cornea, retina, and the gel-like substance inside the eye, with symptoms such as droopy eyelids, vision changes, and dry eyes, while certain types of amyloidosis are more likely to affect specific parts of the eye. Ocular amyloidosis (amyloidosis in the eye) can cause symptoms that range from mild discomfort to serious vision problems.
Symptoms can include:
Lumps under the skin
Ptosis (a droopy eyelid)
Diplopia (double vision)
Constant eye irritation, which may feel like dryness
Blurred vision or seeing “floaters,” cobwebs, or sheets
Globally displaced or protruded eye
Purpura (purple or blue skin) surrounding the eyes, which may appear or worsen when you touch or rub your eyes
AMYLOIDOSIS IN THE EYELIDS, ORBIT, AND CONNECTIVE TISSUE OF THE EYE
Amyloid proteins can build up in the outer parts of the eye, including the eyelid skin, the orbit (the bones that form the eye socket), and the connective tissues that help the eyes move.
AMYLOIDOSIS IN THE CONJUNCTIVA
The conjunctiva is a thin, moist membrane that lines the inside of the eyelids and covers the white part of the eye. In some cases, amyloid proteins may be deposited in this membrane, leading to conjunctival amyloidosis.
Conjunctival amyloidosis usually appears as a small, yellow, waxy mass on the eye. It can occur in both AL amyloidosis and AA amyloidosis. Some people with conjunctival amyloidosis have other amyloidosis-related symptoms in the body, while others do not.
A specific type of amyloidosis, called hereditary amyloidosis (familial amyloidosis), is strongly linked to amyloidosis in the conjunctiva. Hereditary transthyretin (TTR) amyloidosis (hATTR amyloidosis) happens when the liver makes an abnormal form of the TTR protein, which can lead to amyloid buildup in various organs, including the eyes. Since hATTR amyloidosis runs in families, people with a family history should be aware of potential symptoms.
One small-scale study found that among 37 people with hATTR amyloidosis, 75 percent developed abnormal blood vessels in the conjunctiva. This eye problem can lead to severe vision loss, especially if not identified and treated early.
AMYLOIDOSIS IN THE CORNEA
The cornea is the clear, dome-shaped layer over the iris (colored part of the eye). It helps focus light into the eye, allowing you to see clearly. Amyloidosis can affect the cornea in several ways.
Gelatinous Drop-Like Corneal Dystrophy
A hereditary form of amyloidosis can cause gelatinous drop-like corneal dystrophy, a condition where amyloid proteins build up on the cornea. This buildup makes it harder to see and can cause vision problems over time.
Lattice Stromal Dystrophies
Amyloid proteins can also lead to lattice stromal dystrophies, where branching, white lines form inside the cornea. People with this condition may notice white dots and a hazy appearance in the cornea. These dystrophies are caused by specific genetic mutations (changes) linked to amyloidosis.
Keratoconjunctivitis Sicca and Corneal Neuropathy
Hereditary TTR amyloidosis is often associated with corneal neuropathy (loss of corneal sensitivity), which is important for blinking and eye protection. It can also lead to corneal ulcers (open sores on the cornea). Amyloid deposits in the cornea may cause a disease called keratoconjunctivitis sicca (KCS), also known as dry eye disease. KCS can cause severe corneal dryness, which may lead to damage if untreated.
AMYLOIDOSIS IN THE IRIS OR LENS
When amyloidosis affects the iris or lens, it can lead to glaucoma, a group of eye diseases that damage the optic nerve, which carries signals from the eye to the brain. This damage can cause vision loss. Types of glaucoma linked to amyloidosis include rubeotic glaucoma and particle/particulate glaucoma.
Amyloidosis can also cause a condition called scalloped pupils. In this condition, the border between the iris (the colored part of the eye) and the pupil is uneven, giving the pupil a wavy or scalloped appearance. This happens when amyloid deposits build up around the pupil, pushing it out of shape. In some cases, scalloped pupils can be a sign of systemic (whole-body) amyloidosis.
Hereditary amyloidosis is the most common cause of amyloidosis in the iris or lens. Specifically, familial amyloidosis is strongly linked to chronic open-angle glaucoma, a condition that slowly increases pressure inside the eye, leading to vision loss over time.
Additionally, people with hATTR amyloidosis often develop more cataracts and far-sightedness earlier than usual.
AMYLOIDOSIS IN THE RETINA OR VITREOUS
The vitreous is the gel-like substance that fills much of the inside of the eye. When amyloidosis affects the vitreous, it produces opaque (cloudy) areas in the gel that can look like cobwebs, sheets, or pearls. The severity of vision problems depends on how dense the amyloid deposits are.
The retina is the light-sensitive membrane at the back of the eye that helps the brain process images. Amyloid proteins in the retina can change how the eye detects light. This can lead to discolorations in the retina or distortion of its shape.
Amyloidosis in the retina or the vitreous is usually caused by hereditary amyloidosis. About 20 percent of people with hATTR have hemorrhages and cotton wool spots (fluffy white patches of retinal damage) on eye exams, which are signs of retinal and vitreous disease. Retinal amyloidosis may also occasionally occur in primary amyloidosis that affects the whole body.
AMYLOIDOSIS AND OCULAR INVOLVEMENT FROM AN EXPERT
Dr. Chafic Karam, professor of neurology from the University of Pennsylvania, provides an informative overview of how certain mutations of transthyretin amyloidosis are being diagnosed in the central nervous system (CNS), which includes the eye. Starting at 8:15 in the video below, Dr. Karam discusses ocular involvement with amyloidosis – symptoms, how and where the eye can be impacted, and treatment considerations. With patients living longer due to successful amyloidosis therapies now available, he predicts neurologists will see more and more patients with CNS complications and ocular involvement.
Reynolds MM, Veverka KK, Gertz MA, Dispenzieri A, Zeldenrust SR, Leung N, Pulido JS. OCULAR MANIFESTATIONS OF SYSTEMIC AMYLOIDOSIS. Retina. 2018 Jul;38(7):1371-1376. doi: 10.1097/IAE.0000000000001901. PMID: 29068915.
Amyloidosis and Ocular Involvement: an Overview
Dammacco R, Merlini G, Lisch W, Kivelä TT, Giancipoli E, Vacca A, Dammacco F. Amyloidosis and Ocular Involvement: an Overview. Semin Ophthalmol. 2020 Jan 2;35(1):7-26. doi: 10.1080/08820538.2019.1687738. Epub 2019 Dec 12. PMID: 31829761.
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.
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.
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