Header

Skip to main content

Slider

Multidisciplinary Care for Cardiac Amyloidosis Patients

Multi-systemic diseases such as amyloidosis are complex to diagnose, but also complex in treatment and ongoing patient care. It takes a village. In this seminal piece, the American College of Cardiology (ACC) provides an Expert Consensus Decision Pathway on Comprehensive Multidisciplinary Care for the Patient With Cardiac Amyloidosis. 

According to Dr. Vaishali Sanchorawala, Director of the Amyloidosis Center at Boston Medical Center, “The results and progress in the therapeutic landscape of systemic amyloidosis are unbelievable, unprecedented and unheard of for this uniformly fatal disease of the 1990s. But they are not enough, and therefore we need to work together to make a difference.

This paper is an absolute must-read for cardiologists and other specialties such as neurology, gastroenterology, nephrology and hematology.

To read, CLICK HERE.

 


Thank you.

————————————————————
Source:
Kittleson M, Ruberg F, et al. 2023 ACC Expert Consensus Decision Pathway on Comprehensive Multidisciplinary Care for the Patient With Cardiac Amyloidosis. J Am Coll Cardiol. 2023 Mar, 81 (11) 1076–1126.
https://www.jacc.org/doi/10.1016/j.jacc.2022.11.022



ASB: 2021 Year-End Review

Our mission is to educate future doctors about amyloidosis, with the belief that heightened awareness will lead to earlier diagnosis and ultimately improve patient survivorship. We know that the level of medical school education about amyloidosis runs the gamut, from a small mention in textbooks to classroom discussions with medical professionals, although the bias is overwhelmingly towards the “minor mention.” In addition, you’ll read below about our exciting expansion into residency programs – those new physicians now practicing and diagnosing patients. As a result, we are confident our efforts will provide a valuable enriched exposure to this disease to augment the medical school curriculum and residency didactic programs.

EXECUTIVE SUMMARY

  • Last year, we set our 2021 goal at 60 presentations, with hopes that the year would emerge from the 2020 pandemic onset. For the most part, it did. We gave 34 presentations in the Spring, and 27 presentations this Fall. Combined, these 61 presentations were to more than 2,400 medical students and physicians! Go us!

 

  • Of the 61 presentations, 59 were virtual and 2 were in-person. Of note, both of the in-person were to our newly launched residency program outreach. Schools, with students returning to in-person in the Fall, remained largely closed to guests. Looking ahead we anticipate seeing a few more in-person, but virtual is likely here to remain in a big way for the foreseeable future.

 

  • Our recent expansion into internal medicine residency programs (over 550 of them across the U.S.) has already resulted in 6 presentations on the calendar for 2021 and 2022. Our custom video specifically focused for this audience has been very well received and provides an excellent clinical educational complement to our patient stories.

 

  • We average around 35-40 speakers, which allows for diversity in our speaker population’s disease state and flexibility in their availability. This has served us well.  (more on that below)

 

  • We are particularly delighted that our medical school student mailing list – those interested post-presentation in continuing to receive information about amyloidosis – continues to grow and is now around 350! Each month we email brief information about some aspect of amyloidosis, with the content pulled from experts and other trusted organizations. Our goal is to keep amyloidosis in their mind as they approach graduation and begin seeing patients. 

 

  • In October we held our first webinar, “Discover the Power of the Patient/Physician Collaboration” with guests Dr. Rodney Falk and hereditary ATTR patient Sean Riley. We ourselves were very pleased with the discussion and insights, although the attendance fell short of expectations for medical student turnout.

 

  • With the help of one of our speakers Dr. Kathy Rowan, a professor in social science, we received approval from George Mason University’s IRB (Institutional Review Board) in August and launched a study to understand the impact and effectiveness of our educational offering to medical students. At present, we are in data collection mode and anticipate in 2022 we will transition to analysis of the data. If the conclusions are insightful, we intend to seek publication.

 

  • Each Spring and Fall we reach out to medical school deans, updating them on our activities.

 

THE NUMBERS

  • Our target universe is approximately 160 continental U.S.-based medical schools – both their curriculums and student interest groups, and over 580 internal medicine residency programs.
  • We gave 61 presentations in 2021, and have 13 already booked for 2022. 
  • Since the ASB started in the Fall of 2019, we now total 153 presentations, to approximately 6,900 students and physicians. A complete list of schools and resident programs can be found below.
  • Of the 2021 presentations, roughly 20% of the presentations were within the curriculum; 75% to student interest groups, and 5% to residency programs.

 

SPEAKERS

The cornerstone of our effort is our group of wonderful patient speakers, who passionately volunteer their time to give back and share their stories of life with amyloidosis.

 

Our speaker group is diversified by geography across the continental U.S., by amyloidosis type, by organ involvement, by gender and age. This is a rather deep bench, but we have found it both helpful and necessary. Helpful in that we can maximize attendance if we work around the preferred dates and times suggested by the schools. Helpful in that we can match specific disease states with audience focus (e.g., a cardiac amyloidosis patient speaker to a cardiology student interest group). Also, helpful in rotating speakers and types of disease at each school, since we are regularly returning to groups which have overlapping students. And necessary in that periodically, a speaker’s personal situation may change and they need to step back either temporarily, or permanently. We are delighted that our group is fairly stable and increasingly seasoned and experienced in sharing their stories. That said, we are fortunate to have a steady pipeline of new speaker interest, which we spend time screening, qualifying and training to bring online – only if needed (so it’s rare we add new speakers these days). At present, we feel this is an appropriate number of speakers for our current and anticipated growth. 

 

Thanks to two of our speakers who have extensive experience, we offer in-depth guidance for new speakers, and current speakers wanting a ‘refresh’ in the development of their presentation outline and rehearsal training for their delivery. In addition, prior to most virtual presentations we rehearse and test the new speakers’ audio and video technology. For those partaking, it has been an appreciated additional level of support and we believe is translating to a higher quality offering.

 

ADVISORS

We are proud to have an impressive group of medical experts and influencers in the world of amyloidosis, some of whom are also patients, as advisors to support our initiative. Our advisors are active in our efforts and contribute their specialized expertise in a variety of ways, such as medical school introductions, grant requests, educational development, and patient speaker assessment/development. We are extremely grateful for their assistance and believe that, thanks to their contribution, the ASB will make an even bigger difference in the diagnoses of this disease.  You can see our prestigious list of advisors on our website page www.mm713.org/speakers-bureau/ 

 

TESTIMONIALS – OUR TRUE REPORT CARD

Feedback from students and medical school professors has been extraordinarily positive. It reinforces to us that candid and authentic patient stories are a valuable complement to the medical school curriculum, strengthening the learning and deepening the durability for these future doctors about this disease. This is exactly why we do what we do. Here are just a few of the testimonials.

 

The opportunity for second year medical students to hear the story of a patient with amyloid is invaluable. The presentation addressed aspects of pathophysiology they are learning and the human side of medicine. This presentation format offered an excellent teaching opportunity to inform doctors-in-training about this serious disease. Our students gained insight into the patient’s journey through diagnosis, treatment and the challenges ahead. We all appreciated the patient’s generosity in sharing her experiences. Having patients teaching medical students about amyloidosis will have a lasting impact on our future doctors with increasing awareness of this disease and ultimately will help future patients.  Theresa Kristopaitis, M.D., Professor, Assistant Dean for Curriculum Integration, Loyola University Stritch School of Medicine

 

Such a powerful presentation that I will carry with me throughout my whole career, no matter what specialty I go into! I not only learned the importance of keeping amyloidosis on my differential, but also the importance of really listening to your patients and working through the hard diagnoses together.   Solana Archuleta, MD Candidate, University of Colorado School of Medicine

 

I had several students make comments after the conclusion of the presentation that it was the best, one even said ‘exceptional,’ presentations given at our school from a patient.  The materials gave all of the students, including myself, a great introduction to some of the pertinent findings in patients with amyloidosis. Co-President of the Internal Medicine Interest Group, University of Arizona College of Medicine, Phoenix

 

Hearing Ed talking about his journey with Amyloidosis was an incredible experience that only further inspired me to want to be a better physician for my future patients. It is one thing to learn about a condition in the classroom, but hearing the real-world struggles with it from another human being provides a whole new perspective. Ed was open about his journey and shared his feelings during each step, giving us insight into what it is like to be a patient with Amyloidosis. I will take what I learned from this presentation and apply it in order to ensure that patients I see in the future do not have to deal with the same issues that Ed had to deal with.   Gurkaran Singh, MD Candidate, University of Arizona College of Medicine, Tucson

 

Diseases such as amyloidosis are often managed by specialists, but it is important for primary care physicians to recognize these signs and direct these patients to these specialists. Increasing awareness of these diseases among all physicians will help patients reach an answer sooner and can have a significant impact on their lives.  Yue Zhang, MD Candidate, Northwestern Feinberg School of Medicine

 

We are saddened that we lost our co-founder Charolotte Raymond earlier this year, losing her battle with AL amyloidosis. Charolotte was our true inspiration for the Amyloidosis Speakers Bureau, and we know her passion for educating future physicians will be our guiding light. To keep our patient-led focus, we were thrilled to have one of our speakers, Lane Abernathy, join our Operating Committee. Lane, an amyloidosis patient herself, brings wonderful energy, experience and passion to help manage our efforts. We feel thankful to have her with us.

 

An additional word about our growing list of passionate volunteers, the majority of whom are active speakers. They help our efforts across many aspects of our operations, from management, to speaker development, to research, and video production. Their dedication to our effort is a testament of their belief in what we are doing to educate areas of the medical community, and we thank them all.

 

We are pleased with all we have accomplished thus far, energized by the feedback, cognizant that we have much ahead, and hope we have made you proud. After all, we can’t do any of this without you! As always, we welcome any comments you may have.

 

Stay safe, happy holidays to you and your family, and all the best for a new 2022!

 

Mackenzie, Lane, and Deb

Operating Committee of the Amyloidosis Speakers Bureau, sponsored by Mackenzie’s Mission

 

Our initiative is being well received by medical schools across the country. Below is a list of schools we have presented to at least once a year, whether through their curriculum or interest groups. After that, is the growing list of internal medicine residency programs where we also have presented.

 

MEDICAL / D.O. SCHOOLS

  • Albert Einstein College of Medicine
  • Baylor College of Medicine
  • California University of Science & Medicine, School of Medicine, San Bernardino
  • Case Western Reserve School of Medicine
  • Central Michigan University College of Medicine
  • Chicago Medical School, Rosalind Franklin University of Medicine and Science
  • Cleveland Clinic Lerner College of Medicine
  • Columbia University Vagelos College of Physicians and Surgeons
  • Drexel University College of Medicine
  • Florida Atlantic University Charles E. Schmidt College of Medicine
  • Florida International University Herbert Wertheim School of Medicine
  • Florida State University College of Medicine
  • Geisinger Commonwealth School of Medicine
  • George Washington School of Medicine
  • Icahn School of Medicine at Mount Sinai
  • Lake Erie College of Osteopathic Medicine
  • Lewis Katz School of Medicine at Temple University
  • Loyola University Chicago Stritch School of Medicine
  • Mayo Clinic Alix School of Medicine, Rochester
  • Mayo Clinic Alix School of Medicine, Scottsdale
  • Northeast Ohio Medical University College of Medicine
  • Northwestern University Feinberg School of Medicine
  • NYU Grossman School of Medicine
  • Oakland University William Beaumont School of Medicine
  • Quinnipiac University Frank H Netter MD School of Medicine
  • Stanford University School of Medicine
  • Touro College of Osteopathic Medicine in New York City
  • Tufts University School of Medicine
  • University of Arizona College of Medicine, Phoenix
  • University of Arizona College of Medicine, Tucson
  • University of California Irvine School of Medicine
  • University of California San Francisco School of Medicine
  • University of Central Florida College of Medicine
  • University of Chicago Pritzker School of Medicine
  • University of Cincinnati College of Medicine
  • University of Colorado School of Medicine
  • University of Connecticut School of Medicine
  • University of Florida College of Medicine
  • University of Hawaii, John A. Burns School of Medicine
  • University of Illinois College of Medicine, Chicago
  • University of Illinois College of Medicine, Peoria
  • University of Illinois College of Medicine, Rockford
  • University of Iowa Carver College of Medicine
  • University of Kansas School of Medicine, Wichita
  • University of Maryland School of Medicine
  • University of Massachusetts Medical School
  • University of Minnesota Medical School
  • University of Missouri Kansas City School of Medicine
  • University of Nevada Reno, School of Medicine
  • University of Pittsburgh School of Medicine
  • University of South Alabama College of Medicine
  • University of South Carolina School of Medicine, Columbia
  • University of Toledo College of Medicine
  • UNLV School of Medicine
  • Virginia Commonwealth University School of Medicine
  • Wayne State University School of Medicine
  • Wright State University Boonshoft School of Medicine
  • Yale School of Medicine

 

RESIDENCY PROGRAMS

  • Central Maine Medical Center
  • Meharry Medical College Program
  • Michigan State University Program, Sparrow Hospital
  • St. Francis Medical Center Program, Jersey Shore University Medical Center
  • Texas Institute for Graduate Medical Education and Research (TIGMER) Laredo Internal Medicine Residency Program
  • Western Michigan University Homer Stryker M.D. School of Medicine

 

THE POWER OF THE PATIENT/PHYSICIAN COLLABORATION

In this unique webinar, you will hear Dr. Rodney H. Falk and his patient Sean Riley discuss the importance of patient/physician collaboration in diagnosis, using Sean’s personal journey to illustrate the challenges of diagnosing hereditary amyloidosis, a life-threatening rare disease that hides in plain sight.

Hear how listening, observing, and questioning are critical to getting to a diagnosis, along with the recommendation for providers to always bring an elevated suspicion and curiosity to find answers.

Fruit & Veggie Food Safety

Too lazy to wash your fruits and veggies? Here are a few statistics that may inspire you. The Centers for Disease Control and Prevention says about 48 million people are stricken with foodborne illness each year; 128,000 are hospitalized. Approximately 3,000 people die.

For patients with impaired or compromised immune systems, such as those going through chemo/stem cell transplant, practicing good food safety goes a long way.

AL Amyloidosis vs Multiple Myeloma

In the AL amyloidosis community, multiple myeloma is often mentioned. Between 10% and 15% of people who have multiple myeloma develop AL amyloidosis.  In reality, while there are ample similarities where some view these diseases as “cousins,” there are important differences. Here we summarize these two rare blood diseases.

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

Amyloidosis: A Brief Overview

 

Amyloidosis is a “group of diseases” that have the common feature where abnormal proteins (or in some cases normal proteins) behave abnormally, and the breakdown product of these proteins fold upon themselves, creating amyloid” fibrils” which deposit in various organs throughout the body. This potentially life-threatening disease can affect the heart, kidneys, liver, spleen, nervous system and digestive tract. (Falk, R., MD, 2018) A basic illustration of the creation of amyloid “fibrils” is shown below.

(Cleveland Clinic, 2020)

 

There are different types of the disease including AL or Light Chain Amyloidosis, AA Amyloidosis, Transthyretin Amyloidosis (referred to as TTR amyloidosis), and Localized Amyloidosis. TTR amyloidosis includes a hereditary type and a non-hereditary type. (Falk, R, MD, 2018)

 

Common symptoms of amyloidosis are shown in the following figure.

(The Canadian Amyloidosis Support Network)

 

Light Chain (AL) Amyloidosis

AL amyloidosis is the most common type of amyloidosis in developed countries, accounting for approximately 85% of all cases. There are approximately 3,000-5,000 new AL amyloidosis cases a year in the United States. (Falk, R., MD, 2018)  

 

The disease usually affects the heart, kidneys, liver and nerves. This type of amyloidosis is blood related, associated with the abnormality of proteins from plasma cells associated with bone marrow. Plasma cells normally create antibodies, known as immunoglobulins, that serve to combat bacteria and viruses. Antibodies are made up of “heavy chains” and “light chains.” AL amyloidosis stems from an abnormal expansion of plasma cells. The abnormal plasma cells secrete abnormal “free light chains” (FLCs) into the bloodstream. These abnormal light chain mutations become “sticky.” The sticky light chains bind together to form amyloid fibrils which can then accumulate in various body organs, as shown below. (Sherwood, A.L.)

(Cleveland Clinic, 2020)

 

Diagnostic testing for AL amyloidosis includes blood testing, urine tests and biopsies. Blood and/or urine tests are used to indicate the presence of amyloid protein, however bone marrow tests or other small biopsy samples of tissue or organs are needed to positively confirm the diagnosis of amyloidosis. Specific types of blood/urine testing include:

  • A 24-hour urine collection to look at the level of protein in your urine sample. Excess protein in the urine may be an indication of kidney involvement.
  • The level of ALP (an enzyme called “alkaline phosphatase”) in your regular blood workup.
  • Blood tests to look for stress and strain on the heart. Cardiac biomarkers that are used include troponin T or troponin I, and NT-proBNP (which stands for N-terminal pro-brain natriuretic peptide) or BNP (brain natriuretic peptide). 
  • Tests for abnormal antibody (immunoglobulin) proteins in the blood include the Free Light Chain Assay, which shows the level of kappa and lambda light chains in a separate blood test. The Free Light Chain Assay test is often referred to as FLC, which is an abbreviation for free light chains.
  • Another test for abnormal immunoglobulin can be done with blood and/or urine. It is called “immunofixation electrophoresis.”

 

Echocardiogram and imaging are performed so that the doctor can look for amyloid deposits in the heart, while viewing the size and shape of it and the location and extent of any impact of amyloid.

 

Tissue biopsy are performed to identify evidence of amyloid deposits. Tissue samples are sent to a lab for microscopic examination, where the tissue is stained with a dye called “Congo-red.”  After putting it under a microscope, amyloid protein is discovered if it turns an apple-green color, resulting in a diagnosis of amyloidosis. The most common tissue sample, which is almost always involved in generating an AL diagnosis, is called a fat-pad biopsy. Fat-pad biopsies are taken from the stomach. Biopsy samples may also be taken from the liver, kidney, nerves, heart, stomach, or intestines.

 

Bone marrow tests are also performed. These involve the removal of some liquid bone marrow and/or the removal of bone tissue. These samples can help to determine the percentage of amyloid producing plasma cells, and when tested in the lab they can assist in identifying whether the abnormal plasma cells are producing kappa or lambda light chains. (Amyloidosis Foundation, 2021)

 

If treatment begins during the early onset of clinical symptoms, the overall success rate is higher, so early detection is essential.

 

Patients with AL amyloidosis have benefited from the recent development of new drugs for myeloma, many of which work effectively on the plasma cells that cause AL amyloidosis. In addition, the FDA approved the first drug treatment specifically for AL amyloidosis in January 2021, called DARZALEX (daratumumab). Drug combinations are more effective than single drugs in attacking the abnormal plasma cells. Drugs that may be useful include traditional chemotherapy drugs (such as melphalan, and cyclophosphamide), as well as “proteasome inhibitor” and “immunomodulator” drugs. (Amyloidosis Foundation, 2021)

 

Stem cell transplant is also a preferred therapy, as it can provide long-term control of the underlying disease. However, only a minority of AL patients (typically less than 25%) are eligible. (Amyloidosis Foundation, 2021)

 

AA Amyloidosis

AA amyloidosis results from increased levels of the circulating serum “amyloid A protein.” Amyloid A protein levels normally elevate in the bloodstream as a response to infection and inflammation. If a patient has an infection or inflammatory condition for an extended period of time (six months or more) they would be at risk for developing AA amyloidosis. The amyloidosis can arise due to chronic inflammatory and infectious conditions, including rheumatic disease, inflammatory bowel disease, tuberculosis, osteomyelitis, lupus, and hereditary fever syndromes. Amyloid deposition usually begins in the kidneys, but the liver, spleen, lymphnodes, and intestines are also commonly affected.

 

If a patient has been diagnosed with a chronic inflammatory disease or chronic infection and they develop high levels of protein in the urine or other associated AA symptoms, then the physician should test for AA amyloid deposition. When kidney damage occurs, it can be clinically shown as protein found in the urine (nephrotic syndrome) or impairment of kidney function.

 

A test involving a 24-hour urine collection can be performed to look at the level of protein in the patient’s urine. If amyloidosis is suspected in most cases a biopsy of the kidney tissue performed.

 

In order to identify AA amyloid, the most common diagnostic test is staining the tissue sample with antibodies that are specific to AA amyloid, the “anti-AA serum.” If the anti-AA serum result is positive then AA amyloidosis is diagnosed. Once AA amyloidosis is confirmed the primary underlying inflammatory condition should then be identified.  

 

With AA amyloidosis it is most important to treat the underlying infection or inflammation in order to reduce the level of the precursor for the AA amyloid deposits.  These treatments vary depending on the underlying condition. Some treatments that exist for inflammatory diseases include surgery on the infection or tumor, drug therapies for rheumatoid arthritis, antibiotics for chronic infection, among others.

 

With effective treatment of the underlying inflammation amyloid deposits have been known to reduce and nephrotic syndrome can improve. If the kidney function has become significantly impaired, it rarely recovers. 

 

Supportive treatment is very important, including nephrology, cardiology, and neurology. (Amyloidosis Foundation, 2021)

 

TTR (Transthyretin) Amyloidosis

As stated earlier, TTR amyloidosis includes a hereditary type and a non-hereditary type.

 

Hereditary (Familial) Amyloidosis, also referred to as ATTRv amyloidosis, is associated with an inherited genetic mutation. There are various subtypes of familial amyloidosis that are associated with specific demographic groups including Portuguese, Irish, Swedish, Afro-American, and Japanese lineage. 

 

The non-hereditary type of TTR amyloidosis, known as Wild Type Amyloidosis is a disorder predominately of older men in their 70s and beyond. This form of the disease may actually be responsible for up to 10% of male patients having heart failure due to stiff heart tissue. (Falk, R., MD, 2018)  

 

As with AL and AA Amyloidosis, TTR Amyloidosis can manifest itself with a multitude of symptoms. In a vast majority of cases the resultant symptoms are cardiological and/or neuropathic in nature. A basic illustration of the production method for TTR amyloid fibrils is shown below.

Early diagnosis if TTR amyloidosis is essential so as to help minimize the extent of bodily tissue or system damage. First, a patient is tested to determine if they have amyloid proteins in their body. The main diagnostic testing is similar to that described above for AL Amyloidosis, including blood tests, urine tests and biopsies. If amyloidosis is confirmed but the type is not initially identified, additional tests are performed to determine the existence and variation of ATTR.

 

Once it is determined that there is transthyretin amyloid protein (via biopsy and Congo red staining), the specific protein needs to be identified by protein sequence analysis and DNA sequencing. A blood sample is sent to a lab where the DNA chains are analyzed. Sections of the DNA chain are checked for genetic markers of the DNA defect. Hereditary amyloidosis variations affect patients differently. It is critical to establish which variation exists in order to identify a tailored treatment plan.

 

Treatment of TTR amyloidosis include treating the source and symptoms. Source treatment involves slowing down, or stopping, the overproduction of amyloid at the source of the disease. Historically, liver transplant has been helpful, however, the statistics vary as to who can benefit from these transplants, with the outcome dependent largely on the specific mutation that exists in the patient. In some situations, combined heart and liver transplants have helped patients with an ATTR variant that produces cardiac problems. 

 

In 2019, two drugs were approved for treatment of ATTR polyneuropathy associated with TTR amyloidosis in adults.  The first was ONPATTRO (patisiran), a first of its kind RNA interference therapeutic drug which aims to silence the gene expression for patients with the hereditary type TTR.  The second drug approved is TEGSEDI (inotersen), which reduces the production of TTR protein. Also, in 2019, VYNDAQEL and VYNDAMAX (tafamidis) were approved by the FDA for ATTR cardiomyopathy.  (Amyloidosis Foundation, 2021)

 

There is supportive treatment for the various symptoms associated with TTR Amyloidosis, possible symptoms include peripheral neuropathy, autonomic neuropathy, cardiac and kidney problems. There are medications that can be prescribed to treat the effects of peripheral neuropathy, such as tingling or burning sensations. Many patients experience autonomic neuropathy and may require treatment for blood pressure, heart rate, digestion, and perspiration, depending on the location of the damage to the nerves. Other gastrointestinal dysfunctions may require treatment for symptoms that include poor nutritional health, diarrhea or constipation, and nausea or vomiting. (Amyloidosis Foundation, 2021)

 

Localized Amyloidosis

Localized amyloidosis often has a better prognosis than the types that affect one or more organ systems. Typical sites for localized amyloidosis include the bladder, skin, throat or lungs. Correct diagnosis is important so that treatments that affect the entire body can be avoided. (Mayo Clinic. 2021)

 

Summary

Amyloidosis is a complex multi-systemic disease where no two patients are alike. Symptoms are often vague and vary from patient to patient, even within the same disease type, making diagnosis one of the biggest hurdles for the medical community. 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 continued to progress. While treatment is type-specific, it is individualized from patient to patient depending on organ involvement. 

 

In the words of Morie A. Gertz, M.D., M.A.C.P., of the Mayo Clinic and regarded as a leading world expert on amyloidosis.

 

“Thanks to the Amyloidosis Speakers Bureau, providers across the country are being instructed on techniques to suspect and recognize amyloidosis and how to efficiently make the diagnosis in a timely fashion.  Incorporating testing for amyloidosis into the work flow of patients with cardiomyopathy, proteinuria, peripheral neuropathy, unexplained weight loss, and smoldering multiple myeloma has been successful. 

Comprehensive education remains the best strategy to save lives for this rare disorder.”

 

 

 

Sources
Falk, Rodney, MD, Understanding Amyloidosis. (2018).https://www.youtube.com/watch?v=bE68vvDtnyM&t=134s. 
Cleveland Clinic. (2020, June 2). Amyloidosis: AL (Light Chain). https://my.clevelandclinic.org/health/diseases/15718-amyloidosis-al-amyloid-light-chain. 
Sherwood, A. L. (n.d.). Understanding Freelite®, the lab test for serum free light chains. Lecture. 
The Canadian Amyloidosis Support Network. (n.d.). About Amyloidosis. http://thecasn.org/home-2/what-is-amyloidosis/al-amyloidosys/al-amyloidosis-symptoms/
Mayo Clinic. 2021. Amyloidosis – Symptoms and causes. [online] Available at: <https://www.mayoclinic.org/diseases-conditions/amyloidosis/symptoms-causes/syc-20353178> [Accessed 14 July 2021].
Amyloidosis Foundation. 2021. AL – Amyloidosis Foundation. [online] Available at: <https://amyloidosis.org/facts/al/#diagnosis> [Accessed 14 July 2021].

 

Tips & Recipes for Healthy Eating with Amyloidosis

 

Are you wondering what diet to follow after a diagnosis of AL Amyloidosis? With so many unknowns and what-ifs, it is a scary and overwhelming time. Guest writer Lori Grover, herself an Amyloidosis survivor, provides helpful insights into healthy eating.

So much is out of your hands as you wait for test results and treatment options. I was terrified when I received my diagnosis five years ago. I found focusing on the things I could control (like following doctors’ orders, taking medications on time, reducing stress, and eating a clean diet) gave me back a small sense of power over my life.

I recently had the privilege of chatting about diet and Amyloidosis with Julieann Ray Cheng, a fellow Amyloidosis warrior, dietician, and author of soon-to-be-published “The Delightful Dietician” cookbook, who offered specific guidance, tips, and recipes to help manage the disease.

While there is no diet specific to AL Amyloidosis, Julieann recommends following a healthy diet to help you stay as strong as possible while you face treatment.

 

5 Tips for Healthy Eating: Variety is Key!

The following suggestions are based on the Dietary Guidelines for Americans 2020-2025.

1. Include all the food groups: vegetables, fruit, protein foods, dairy, and fat.

2. Colour your plate. Be sure to include various fruits and vegetables to get all the vitamins, minerals, nutrients and antioxidants you need.

3. Customize your diet according to any specific restrictions given by your physician. Your doctors may tell you to avoid certain foods that can interact with your medications. If you have kidney involvement, you may also have to closely monitor electrolytes and minerals such as sodium, potassium, and calcium. As this will differ for every patient, be sure to follow your doctor’s recommendations closely.

4. Be prepared to battle nausea as chemotherapy may upset your stomach. On days when you receive treatment, you may not feel like eating much. Eat small meals, and prep for the days you don’t feel well. Have healthy foods on hand, like homemade soups in the freezer, for quick and easy meals.

5. Watch your fluids. Keep a bottle of fresh water with you and frequently sip to avoid dehydration and dry mouth. If you suffer from edema, your doctor may give you specific directions about how much fluid you can consume daily.

 

Foods to Avoid when you have Amyloidosis

Watch out for sodium.  A healthy diet when you have Amyloidosis includes no more than 2300 mg of sodium per day (certain disease conditions like heart failure and kidney disease may recommend 1500 mg of sodium or less per day). Many foods contain surprisingly high amounts of sodium, so keep an eye on the labels. Choose fresh, frozen, and no-salt-added canned fruits and vegetables. Stay away from processed foods, the salt shaker, spice blends or soup bases that contain salt.

Speak with your doctor before consuming alcohol. The current recommendation is two alcoholic beverages per day for men and one alcoholic beverage for women.  However, if you take regular medications,  it is best to avoid daily consumption of alcohol because it can place additional stress on the liver. Alcohol contains a significant amount of calories and is not essential to a healthy diet. It’s best to avoid or limit alcohol to special occasions.

Limit added sugar to 10 percent of your daily calories (200 calories or 50 grams of added sugars based on a 2000 calorie diet). Watch out for beverages like soda, coffee with added syrups, and sugary juices. A better choice is water with lemon or other fresh or frozen fruit to provide flavour. Foods that contain added sugars include breakfast cereals and bars, candy, high-fat milk and yogurt, desserts, and sweet snacks.  Consider fresh or canned fruit to satisfy your sweet tooth and provide your body with essential vitamins, minerals, and fibre.

Limit saturated fat to 10 percent of daily calories (200 calories or 22.2 grams of saturated fat based on a 2000 calorie diet). Fried foods, high-fat meats, whole-fat dairy, ice cream, coconut or palm oils, and butter contain saturated fat. Skip these whenever possible and choose healthy fat instead. Baking or roast foods, choose lean cuts of meat and remove the skin, and use olive, canola, sunflower, safflower, or soybean oil in place of butter, coconut or palm oil.

 

How Does Your Diet Rate?

 

 

The most important part of sticking to a healthy diet when you have Amyloidosis is to enjoy your food while you nourish your body. Making necessary adjustments will have an enormous impact on your overall health.

If you feel overwhelmed, consider making one change at a time and adapting the transition to your lifestyle. Most changes will set in and feel like your new normal after about three weeks. Look at each day as an opportunity to nourish your body with healthy foods.

Make the right choices, and your body will thank you! For more tips on implementing these healthy changes check out our posts Amyloidosis and Diet or our Treatment Survival Guide.

Finally, Julieann has graciously provided two delicious healthy recipes from her upcoming cookbook that she routinely prepares as she manages her amyloidosis diet.

Enjoy!

 

Lori Grover is a guest blogger for Mackenzie’s Mission. She was diagnosed with AL Amyloidosis in 2016 and writes to share experiences and lessons learned during her journey.  More wonderful blogs by Lori can be found on her page Amyloid Assassin.  Lori is a freelance copywriter, and a mom of two wonderful boys. She loves writing, reading, and all things crafty.

Julieann Ray Cheng is an Ohio-based dietician who was diagnosed with AL Amyloidosis in 2018. When not in the kitchen, she loves to travel with her family and shop for goodies. Keep an eye out for her cookbook “The Delightful Dietician,” available in the fall of 2021. 

 

Easy Vegetable Soup  (Servings:  6 – 10 oz bowls)

1 small onion, diced

2 teaspoons of olive oil or oil of your choice

4 stocks of celery, diced

2 potatoes, diced or 1 c small pasta noodles (if reducing potassium)

1 pound frozen mixed vegetables (carrots, corn, green beans, peas)

14.5 oz canned tomatoes, diced (may use low sodium or no added salt)

6 cups vegetable broth (may use low sodium or no added salt broth)

1 teaspoon garlic powder

½ teaspoon white or black pepper

In a medium saucepan add olive oil, diced onions, diced celery. Sautee on medium heat for 5 minutes.

Add vegetable broth, mixed vegetables, diced potatoes, garlic powder, and white or black pepper.

Bring to a boil and simmer for 15 – 20 minutes uncovered.

***If reducing the potassium omit the diced potatoes and diced tomatoes, add 1 cup small pasta noodles, ½ pound of mixed vegetables, and 2 cups vegetable broth.

By:  Julieann Ray Cheng, The Delightful Dietitian

 

Color Your Plate Chicken Sheet Pan Dinner  (Servings:  4)

4 chicken breasts

1 teaspoon garlic powder

1 teaspoon onion powder

½ teaspoon black or white pepper

1 teaspoon Rosemary

2 diced sweet potatoes, or 6 diced carrots (if potassium restriction is needed)

1 pound frozen tricolor peppers and onion blend

1 pound fresh or frozen broccoli or brussels sprouts

1 garlic clove, minced

2 tablespoons oil

Pre-heat oven to 400 degrees F.

Line a sheet pan with parchment paper for easy cleaning.  Spray with cooking oil.

Season chicken breast with garlic powder, onion powder, black or white pepper, and Rosemary.  Place on one side of the sheet pan.  Add diced sweet potatoes on the other side of the sheet pan.  Bake at 400 degrees for 30 minutes.

While the chicken breast and sweet potatoes are baking.  In a bowl add frozen tricolor peppers and onion blend, broccoli or brussels sprouts, garlic, and oil.

Remove pan from oven.  Add vegetable mixture to the sweet potatoes and toss.  Place back in the oven for an additional 25-30 minutes until the chicken reaches an internal temperature of 165 degrees F.

Remove from oven and allow to rest for 5 minutes before serving.

**If the chicken breast is cooked with skin, Place under broiler for 4-5 minutes to crisp the skin of the chicken and vegetables at the end of cooking time.

***If sweet potatoes are omitted, add carrots with other vegetables during the second half of cooking.

By:  Julieann Ray Cheng, The Delightful Dietitian

Charolotte Raymond

Celebrating a Warrior, Partner, and Friend – Charolotte Raymond

Our first communication with Charolotte was Fall 2018. Since 2017, after giving a presentation to the medical students of Dr. Gordon Huggins at Tufts University School of Medicine, she developed this vision for a speakers bureau and was looking for a group to partner with that could bring the infrastructure and financial support to life.  After knocking on a few doors, Muriel Finkel of the Amyloidosis Support Groups suggested she knock on ours – Mackenzie’s Mission.

At the same time, Mackenzie’s Mission, founded a year earlier, was still searching for that right “raising awareness” initiative. At the onset we went for public social medial posts and website blogs, but we quickly knew that random and public outreach wouldn’t been effective on our small scale. A public onslaught for awareness required a massive media platform and lots of money, or a lucky viral campaign like ALS’ Ice Bucket Challenge. Neither felt attainable. Mackenzie wanted an initiative that was targeted and focused, and aimed at a segment that could make a difference. 

Charolotte’s first email to us in August 2018 began, “I have been building a team of speakers to go to medical schools and talk about their experiences with Amyloidosis. It is an idea I wanted to discuss with you. I like that you are not sitting back, that you are truly proactive!! It is people like you that are going to be changing the face of this illness!” 

Next was a call where Charolotte described her vision. Mackenzie responded with the most enthusiastic, “YES, we have to do this.” For her, it was the moment of clarity on her dreams to raise awareness. The concept was simple – focus on the pipeline of future doctors, educating them through patient stories. Brilliant. It brought a complement to the often scant discussion of amyloidosis in curriculums, an emotional element to see, hear and better understand the patient perspective, and opportunity reach a multitude of specialties before they declare their path, all in one place.

In the ensuing months in between her treatments, we had extensive conversations — about everything and anything. Ranging from big concepts like operating structure and roles/responsibilities to execution details like priorities, funding and resources.  We were aligned on some thoughts, and unsure about others. We knew Mackenzie’s Mission could bring the legal platform, and operationally had the ability to bring this to life. There was one growing reality emerging through all of this – we were 100% aligned on the vision and simply enjoyed each other with positivity, laughter, and a rapidly developing respect for everyone’s views and opinions. Our triumvirate was diverse by disease, age, and experience. Together, it pointed to a powerful collaboration of effectiveness and efficiency, while having fun along the way.

By January, 2019 we felt we had the framework for Charolotte’s initial vision, shaped and re-shaped to execute. Thus on February 1, 2019, the Amyloidosis Speakers Bureau was launched. We spent the next handful of months laying the foundation – website, materials, and recruiting a wonderful group of speakers. In addition, we established a group of advisors — renown amyloidosis experts and key community leaders — that brought credibility, support, and respect for our initiative.

Our first school year – Fall 2019 to Spring 2020 we held 44 presentations. Interrupted by the global COVID pandemic, we re-tooled from being in-person to virtual. Our offering was now broader, more robust and flexible. We learned so much and were always willing to pivot, a mindset which had us always looking forward, listening for feedback, and never forgetting our focused mission.

Today, in the Spring of 2021 and a few months away from concluding our second school year, have booked 61 presentations with a pipeline of a half dozen more to schedule. We have about 40 speakers, diverse by disease type, experience, and organ involvement. They are the centerpiece of our initiative and we thank them dearly for being a part of the ASB. We have presented to over 5,000 medical students, and information about amyloidosis has reached over 30,000 medical students — all in just our first two years.

As Charolotte’s health ebbed and flowed, we saw her fierce love of life and willingness to battle back this disease. She never gave up and never wavered in her happiness seeing her vision make a difference in the amyloidosis community. Thanks to our Zoom world, she often was able to join school presentations and see the fruits of our labor in action. We know it brought her great pride and joy. She is survived by her beloved husband Robert N. Raymond of Delray Beach, Florida; daughters Kristen Weatherbee Smith of Delray Beach, Florida; Sherry and husband Robert Ortiz of Rochester; sons Eric and wife Kathleen of Rochester, Roderick of Somersworth; grandchildren Sean, Melissa, Kaylah, Katelyn, Lettie, Brennan, Zoe, Isabella, Alexander, great grandchildren Rylee, Finley and many extended family, and countless special friends.

The Amyloidosis Speakers Bureau will forever be a lasting legacy that always remembers Charolotte.

xoxo Charolotte. We love you, Mackenzie and Deb

Obituary

1st FDA-Approved Drug for AL Amyloidosis

After decades of relying on treatments approved for other diseases, on January 15, 2021 the FDA approved the first drug for AL Amyloidosis. Truly a game-changing, monumental advancement in the treatment of this disease.

 

On January 15, 2021, the Food and Drug Administration granted accelerated approval to daratumumab plus hyaluronidase (Darzalex Faspro, Janssen Biotech Inc.) in combination with bortezomib, cyclophosphamide and dexamethasone (CyBorD) for newly diagnosed light chain (AL) amyloidosis. “AL amyloidosis is a devastating and potentially fatal blood disorder that, until now, did not have any U.S. FDA-approved therapies. This makes today’s approval of DARZALEX FASPRO a critical step forward for patients in the U.S. in dire need of treatment options,” said Jan van de Winkel, Ph.D., Chief Executive Officer of Genmab.

ABOUT AL AMYLOIDOSIS (1)

Amyloidosis is a disease that occurs when amyloid proteins, which are abnormal proteins, accumulate in tissues and organs. When the amyloid proteins cluster together, they form deposits that damage the tissues and organs. AL amyloidosis most frequently affects the heart, kidneys, liver, nervous system and digestive tract. Until now there were no approved therapies for AL amyloidosis in the U.S., though it is currently being treated with chemotherapy, dexamethasone, stem cell transplants and supportive therapies. It is estimated that there are approximately 3,000 to 4,000 new cases of AL amyloidosis diagnosed annually in the U.S.

CLINICAL TRIAL

Efficacy was evaluated in ANDROMEDA (NCT03201965), an open-label, randomized, active-controlled trial in 388 patients with newly diagnosed AL amyloidosis with measurable disease and at least one affected organ according to consensus criteria. Patients were randomized to receive bortezomib, cyclophosphamide, and dexamethasone (VCd arm) or with Darzalex Faspro (D-VCd arm).

The hematologic complete response (HemCR) rate based on established consensus response criteria as evaluated by an independent review committee was 42.1% for the D-VCd arm and 13.5% for the VCd arm (odds ratio=4.8; 95% CI: 2.9, 8.1; p<0.0001).

The prescribing information includes a Warnings and Precautions that serious or fatal cardiac adverse reactions occurred in patients with light chain (AL) amyloidosis who received Darzalex Faspro in combination with bortezomib, cyclophosphamide and dexamethasone. Darzalex Faspro is not indicated and is not recommended for the treatment of patients with light chain (AL) amyloidosis who have NYHA Class IIIB or Class IV cardiac disease or Mayo Stage IIIB outside of controlled clinical trials.

The most common adverse reactions (≥20%) in patients with light chain (AL) amyloidosis who received the D-VCd regimen are upper respiratory tract infection, diarrhea, peripheral edema, constipation peripheral sensory neuropathy, fatigue, nausea, insomnia, dyspnea and cough.

HOW DARZALEX FASPRO WORKS

Darzalex Faspro is an immunotherapy that works with your body to fight disease, preventing the abnormal plasma cells from creating excess light chains.

Darzalex Faspro is a subcutaneous injection, typically administered with several additional drugs intended to minimize reactions. Treatment usually begins with weekly injections for eight weeks, followed by bi-weekly injections for another eight weeks, and then monthly injections thereafter.

FDA APPROVAL

The FDA approved this application 7 weeks ahead of the FDA goal date. This application was granted accelerated approval based on response rate.

With FDA approval, this gives healthcare professionals even more ammunition in the treatment of amyloidosis, and should positively impact (i.e., reduce) complexities that patients often experienced in order to receive insurance company approval. Darzalex Faspro (daratumumab and hyaluronidase-fihj), approved for AL amyloidosis, now joins three other FDA-approved drugs for TTR amyloidosis  (Onpattro (patisiran), Tegsedi (inotersen) and Vyndamax (tafamidis)).

Progress!

—————–

  1. Genmab announcement

Macroglossia & Amyloidosis

 

WHAT IS IT?

According to the NIH (1), macroglossia is the abnormal enlargement of the tongue in proportion to other structures in the mouth. It usually occurs secondary to an underlying disorder that may be present from birth (congenital) or acquired.

 

SYMPTOMS

Symptoms associated with macroglossia may include drooling, speech impairment, difficulty eating, noisy, high-pitched breathing (stridor), snoring, airway obstruction, abnormal growth of the jaw and teeth, and ulceration. In some cases, the tongue may protrude from the mouth. (1) (3)

Talking may be affected. The large size of the tongue may also cause abnormal development of the jaw and teeth, resulting in misaligned or protruding teeth. Ulceration and dying tissue on the tip of the tongue may be other symptoms of the disorder. (3)

In addition to an enlarged tongue it is common to see indentations around the tongue perimeter from the constant pressure against the teeth.

Patients who graciously offered their picture for this blog reinforce many of these symptoms, including TMJ, difficulty swallowing, and breathing. Reiterated almost unanimously, eating is a problem – chewing and swallowing, clearing food from their mouth. Food gets stuck in front of their teeth. Speech is affected, and they often sound “slushy.” Snoring can get so bad it wakes them (and partners) up during the night. In addition, sometimes, their tongue gets sore from rubbing against their teeth.

 

WHAT CAUSES IT?

Macroglossia can be associated with a wide range of congenital (present from birth) and acquired conditions (e.g., malignancies, metabolic/endocrine disorders, inflammatory or infectious diseases; amyloidosis), or it can occur as an isolated feature (with no other abnormalities). In most cases, it is due to vascular malformations (blood vessel abnormalities) and muscular hypertrophy (an increase in muscle mass). (1)

Macroglossia, while occurring much more frequently in AL amyloidosis, can also accompany ATTR amyloidosis. (2)   

 

HOW IS IT TREATED?

Treatment depends upon the underlying cause and severity and may range from speech therapy in mild cases, to orthodontic procedures, to surgical reduction in more severe cases. (1) (3)

 

Sources

  1. National Institutes of Health
  2. NIH National Library of Medicine
  3. National Organization for Rare Disorders

 

This website uses cookies

This site uses cookies to provide more personalized content, social media features, and ads, and to analyze our traffic. We might share information about your use of our site with our social media, advertising, and analytics partners who may combine it with other information that you’ve provided to them or that they’ve collected from your use of their services. We will never sell your information or share it with unaffiliated entities.

Newsletter Icon