Our patient speakers at the Amyloidosis Speakers Bureau are powerful educators and offer compelling insights. Have a listen to this brief clip from Dr. Charles Williams. He talks about how since his diagnosis the awareness and treatments about amyloidosis are definitely improving, and that’s fantastic.
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Patient Insights: I Have Multiple Orthopedic Manifestations
Our patient speakers at the Amyloidosis Speakers Bureau are powerful educators and offer compelling insights. Have a listen to this brief clip from John. He talks about how his years of multiple orthopedic manifestations might have been “red flags” to diagnose his disease earlier.
Patient Insights: A Diagnosis of Congestive Heart Failure Wasn’t Enough
Our patient speakers at the Amyloidosis Speakers Bureau are powerful educators and offer compelling insights. Have a listen to this brief clip from Dr. Charles Williams. He talks about how his diagnosis of congestive heart failure didn’t address the root cause, and the importance for providers to keep digging until they find the ultimate cause of the CHF.
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.
To read the paper associated with this video:
“Clinical Features of Systemic Amyloidosis: A Scoping Review”
To read the paper associated with the same ASH (American Society of Hematology) 2-year project:
“2026 Guidelines on Diagnosis of Light Chain Amyloidosis”
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
- Weakness of part of a leg or arm
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.
Sources:
1 https://www.mountsinai.org/health-library/diseases-conditions/spinal-stenosis
2 https://www.neurologylive.com/view/cardiac-amyloidosis-management
3 https://pubmed.ncbi.nlm.nih.gov/21334722/
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.
4 https://pubmed.ncbi.nlm.nih.gov/14640042/
Westermark P, Bergström J, Solomon A, Murphy C, Sletten K. Transthyretin-derived senile systemic amyloidosis: clinicopathologic and structural considerations. Amyloid. 2003 Aug;10 Suppl 1:48-54. PMID: 14640042.
5 https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4116761/
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
6 https://en.wikipedia.org/wiki/Spinal_stenosis
For Pharmacists: Advancing Care in Amyloidosis: From Pathophysiology to Patient-Centered Care
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.
Note:
Course with expiration date
Turning Uncertainty Into Impact
Rare Disease Summit 2026
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.
