The goal of this eLearning activity is to educate pharmacists about amyloidosis. From epidemiological characteristics to risk factors, clinical presentation and treatment pathways this course will ensure pharmacists have knowledge needed to answer questions and support care coordination for patients affected. Additionally, the information provided will support pharmacists in improving outcomes within patient-centered team-based care.
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!
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.
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.
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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
RED FLAG SIGNS AND SYMPTOMS FOR RENAL INVOLVEMENT
RED FLAG SIGNS AND SYMPTOMS FOR NEUROLOGICAL INVOLVEMENT
RED FLAG SIGNS AND SYMPTOMS – OTHER
Liver Presentation
Gastrointestinal tract Presentation
Other
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LINK TO PUBLICATION IN BLOOD ADVANCES
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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.
The Amyloidosis Speakers Bureau (ASB) is recognized as a leader in enhancing medical education and awareness, starting in medical school and continuing through fellowship, which is essential for improving early disease recognition.
In an editorial comment titled “Delayed Diagnosis of Transthyretin Amyloid Cardiomyopathy in the Modern Era: Seeing the Forest through the Trees” published in the JACC on January 7, 2026 by Melissa A. Lyle, MD and Jose N. Nativi-Nicolau, MD of the Mayo Clinic, the ASB received a powerful recognition in support of our medical education initiative.
The editorial commented on the recent transformation in the field of amyloid cardiomyopathy. It references a comprehensive retrospective analysis leveraging data from the Veterans Health Administration, the nation’s largest integrated health care system, to examine diagnostic patterns in patients with heart failure (HF) and ATTR-CM between 2016 and 2022. This study underscores a critical gap: Even within a highly integrated health system with access to diagnostic tools and longitudinal data, under-recognition and delayed diagnosis of ATTR-CM remain pervasive.
“Why does diagnostic delay matter so much? Although it may seem less urgent given that patients are eventually diagnosed and ATTR-CM is generally considered a more indolent condition than amyloid light-chain amyloidosis, the clinical impact of delayed diagnosis is significant. Studies have shown that even a delay of 3 months can result in patients presenting with a higher NYHA classification, indicating more advanced disease at the time of diagnosis.8 Most importantly, we now have 3 U.S. Food and Drug administration–approved therapies for ATTR-CM that not only extend survival but also reduce HF hospitalizations and improve quality of life. Crucially, these treatments are most effective when initiated in the earlier stages of disease. With this growing arsenal of disease-modifying therapies, timely diagnosis is no longer just ideal, it is imperative.
To reduce diagnostic delays and shift clinical focus from treating isolated comorbidities to the broader picture, we must begin to “see the forest” instead of just the trees. Three strategies may help. First, enhancing education and awareness, starting in medical school and continuing through fellowship, is essential for improving early recognition. Advocacy organizations like the Amyloidosis Speakers Bureau, a nonprofit entity dedicated to educating medical trainees and early-career clinicians, lead the way with raising awareness among providers.9 Second, clinicians should more consistently apply existing diagnostic tools, such as the ATTR-CM score,10 to avoid overlooking amyloidosis in patients with HFpEF. Third, integrating artificial intelligence into diagnostic workflows could identify potential cases by identifying red flags, within electronic medical records, prompting consideration of cardiac amyloidosis alongside common comorbidities such as atrial fibrillation, coronary artery disease, and chronic kidney disease. If we do not think of amyloidosis, we will not diagnose it. In 2025, we have the tools to identify and treat ATTR-CM. We just need to look up from the trees in time to recognize the forest, often hiding in plain sight.”
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.
This was our eighth full year of operation. We were busy with lots of activities to advance our mission to make a difference in the fight against Amyloidosis. Operationally, we continued to run extremely efficient and lean, and laser-focused on making a difference in multiple ways.
PART I – RAISING AWARENESS
The first part of our mission is raising awareness.
Amyloidosis Speakers Bureau (ASB)
In February 2019 we launched the Amyloidosis Speakers Bureau as the cornerstone of our education effort, focused on closing the medical education gap. It is a direct outreach with live presentations by patient educators, done both virtually and in-person. In addition, each presentation has a clinical discussion about amyloidosis. Thus overall, every presentation has well-rounded and impactful content to educate the audience.
Amyloidosis is considered a rare disease and is not well known. However, there is a belief within the medical community that this disease is not rare, it is underdiagnosed or diagnosed when it is too late to make a difference. The complexity of this disease makes diagnosis one of the biggest challenges affecting patient lives. It is not uncommon to hear from patients that it took multiple years and multiple doctors to ultimately arrive at a correct diagnosis, all the while the disease continues to progress. Until a cure is found, it is imperative to raise awareness within the medical community to close this educational gap so that a diagnosis can be determined much sooner, enabling effective treatments and therapies to slow the disease progression and improve patient survival.
Our response to this crisis is the Amyloidosis Speakers Bureau (ASB), an initiative focused on educating the medical community and closing the education gap about this disease through presentations from amyloidosis patients, a clinical discussion from a medical expert, and our monthly educational updates. Our target audience is future providers (e.g., the next generation of doctors during their first/second year of medical school, and PA students), as well as current medical providers (e.g., internal medicine residency programs for physicians launching their medical career). In 2025 we expanded to include hand surgery residency programs, focusing on that early red flag of orthopedic manifestations. Looking forward we are furthering our outreach to include PM&R and GI residency programs.
During 2025, we gave 85 presentations to over 5,400 future and current medical providers. Since we began in the fall of 2019, we have given over 475 presentations to more than 25,000 future and current medical providers! We also are proud to be educating a wide array of specialties who might encounter amyloidosis patients, and every year another medical school cohort graduates – numbering 3,000+, entering the clinical world of practicing medicine and diagnosing patients. Our impact is deepening and continuing to grow.
Amyloidosis Lecture Series
Launched late 2023, we created a lecture series of Expert Insights Into Amyloidosis composed of short educational videos from our ASB Advisors. Developed for our medical student/resident audience, we have found that our patient community is also finding value in these videos. These short videos continue to be a massive hit. We continue to add to the series, and collectively, these videos have amassed over 90,000 views. Shockingly awesome! To view, visit the Education hub of our website and click on the “Expert Insights” category.
All Things Amyloid podcast
Over a year ago we launched the first dedicated amyloidosis podcast titled “All Things Amyloid.” Found on major podcast platforms, our website, and our YouTube channel, in our episodes we speak with patients and caregivers on a wide array of topics. We also hear from amyloidosis experts about the medical side of this disease. Our 32 short bi-weekly episodes have amassed over 11,000 downloads! To see our episodes, visit our podcast website HERE.
Digital Education Initiative
Knowing the critical importance of raising awareness of this disease, it became evident to us that it was a good time to launch a digital initiative to far extend our reach. On June 1, 2024 we launched a targeted educational initiative on our three social media platforms (Facebook, LinkedIn, and X), and a Google search program. Focused topics include cardiac symptoms, west African heritage, extreme fatigue, and carpal tunnel syndrome. Since we began, we have garnered over 69.7 million impressions!
Continuing Medical Student Education
After every presentation we invite students interested in continuing to learn about amyloidosis to join our ASB Briefs mailing list. Today, that list numbers over 1,100! Each month we send a brief discussion about some aspect of the disease with a growing library of links to informative presentations / videos by medical experts, and announcements regarding advancements in treatment. The intention is to keep amyloidosis more front-of-mind and educate on the many facets of this complex and multi-systemic disease.
PART II – ADVANCING MEDICAL RESEARCH
The second part of our mission is to help advance research. Research is at the core of developing new therapies to improve patient lives. Patients benefit from research through early access to novel therapies, new tests for earlier/easier diagnosis, and new approved treatments. However, research is expensive, takes many years, and is absolutely critical to the deepening of knowledge fueling these advancements. And while significant progress continues to be made, much more needs to be done.
No progress in the fight against this disease happens without funding, and the NIH provides a mere fraction of what is needed. Researchers require money to run their labs, maintain bio banks, purchase equipment, run clinical trials, and more. To operate, they rely on private foundations (like Mackenzie’s Mission), grants, and individual donors.
Each year, a portion of our budget goes towards advancing research. We are grateful for the support received from donors like you and fundraisers, and proud that collectively these funds are changing the therapeutic landscape and benefiting patients.
In 2025, our donations pushed us over the $1,875,000 threshold for total money donated!
WITH MUCH APPRECIATION AND GRATITUDE
This last year you may have donated cash or securities, sponsored a Facebook fundraiser, supported us during Giving Tuesday, or given us a grant to support our Amyloidosis Speakers Bureau (ASB) medical education initiative. You may have been an ASB patient educator, liked/shared our social media posts, been a guest on or subscribed to our All Things Amyloid podcast, or taken the time to read our posts or newsletter to learn about what’s going on in our community. Whether you did one or many of these, you helped us push forward our fight against this disease and we appreciate your support!
We also want to extend a special thank you to our volunteers (including Linda, Liz, Kathy, Sean, Rayna, Trent, and others!) who passionately and graciously devote their time and expertise. They help our efforts across many aspects of our operations, from management, to speaker development, to research, to graphics/marketing, and video production. Their dedication to our effort is a testament to their belief in what we are doing and we thank them all!
I am encouraged by the impact Mackenzie’s Mission continues to make after just eight short years. Connecting with the amyloidosis community and working together to make an impact is extremely rewarding. There is much work to be done, but with so much help from the community and our supporters I know we can win this fight!
With warm regards for a wonderful and hopeful 2026,
Mackenzie
AN UPDATE ON ME
This past year was a busy one! Mackenzie’s Mission and the Amyloidosis Speakers Bureau advanced many important projects, building the foundation for an exciting future. Outside of the foundation, I am working as an Inpatient Physician Assistant at Dana-Farber Cancer Institute in Boston and am fortunate to continue my travels exploring the world. As for my disease, I am monitored closely, and my disease continues to remain under control. I feel great!
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
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:
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.
Sources
https://www.myamyloidosisteam.com/resources/does-amyloidosis-affect-the-eyes
Ocular Manifestations of Systemic Amyloidosis
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.
Ocular Amyloidosis
