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As a member of the amyloidosis community, we consistently engage in conversations with patients across a variety of forums. One constant among these patients is a desire for more knowledge. We want to learn about symptoms, treatments, and how we are all impacted by this disease. To get some answers, Mackenzie’s Mission created a series of online questions. We heard from 575 respondents. Here are their answers. Disclaimer: we are simply reporting the data as submitted.

In response to what is your current age today, the range was between 20 and 89, with 92.6% falling between the age of 40 and 79, and 83% falling between the age of 50 and 79.

In response to what was your age at time of diagnosis, the range was between 10 and 89, with 91% falling between the age of 40 and 79, and 63.8% falling between the age of 50 and 69.

The gender of respondents was somewhat balanced, with 54.5% female and 45.5% male.

The respondents currently live in 25 countries/areas around the globe, with 82.09% from the United States.

The types of amyloidosis were also diverse, including Primary/AL, hATTR, ATTRwt, Localized, and Secondary/AA. About 3% of the respondents were types outside of these, or unknown.

When asked about the number of organs affected, the majority at 56.5% had two or more, followed by 36.7% with one organ involved. A small 6.8% had no organ involvement.

Next, we asked the respondents for specifics as to which organs had been affected by the disease. The heart and kidney were the most common, with the GI Tract and Nervous System coming in similarly at third and fourth. Fewer respondents listed problems with the liver, lungs, spleen and larynx. In addition, there was a surprisingly long list of other involvements filled in, each receiving just one tally.

The next four questions focused on the specialty of doctors that patients had visited, and the time to diagnosis. We first asked how many doctors each respondent saw before getting a diagnosis. It is interesting to see how evenly it is spread across the selections.

We then wanted to know where their journey began. What was the specialty of the first doctor the respondent visited? It was not a surprise that the majority of responses, at 53.9%, named their PCP/Internal Medicine as their first stop.

The next question was to determine what type of doctor made the amyloidosis diagnosis. The data seems to indicate that while PCP/Internal Medicine was the first point of inquiry at 53.9%, they arrived at a diagnosis only 1.9% of the time. Thus, referrals to specialists were key to getting a diagnosis, with nephrologists, hematologists/oncologists, and cardiologists the front runners at an aggregate of 72.9%. Having said that, per the earlier chart, it took many specialists to arrive at the answer.

Next, we wanted to know how long it took to get a diagnosis. We were surprised to learn that 50% of respondents said they received a diagnosis within the first six months, especially given the number of doctors visited to arrive at the diagnosis.

We then asked respondents to list all symptoms they experienced. The dominant symptoms were fatigue and shortness of breath – 64.2% and 53.7% respectively. The “Other” category came in strong at 22.4%, with an extremely long and diverse list of additional symptoms (too many to mention here). It does seem appropriate to observe that the diversity of symptoms reflects the complexity of this disease.

We wanted to better understand how long patients experienced symptoms before they sought medical attention (this is of course with the benefit of 20/20 hindsight). Some 37.6% of respondents sought treatment early, waiting six months or less. However, nearly half — approximately 46% — experienced symptoms anywhere from six months to three years before their first doctors visit.

We asked respondents the types of treatments they had undergone since diagnosis. A significant 77.8% had various types of drug therapy and 37% received a stem cell transplant. A number of the patients having a stem cell transplant also had drug therapies, so these responses are not exclusive of one another.

For those who underwent a stem cell transplant, we wanted to understand whether the procedure was done as an inpatient, an outpatient, or as a combination. The majority at 68.5%, for a variety of reasons, were inpatient.

Our next category of questions focused on clinical trials. Of our 575 respondents, roughly one-quarter have participated in a clinical trial.

We asked those who participated in a clinical trial which one they were in. You can see below the distribution for the ATTR trials. We did ask a separate question regarding the AL-focused trials, however the data proved to be questionable and thus it was excluded from this recap.

The next question was aimed at the 77% who indicated they did not participate in a clinical trial, seeking to understand why not. Striking was the number of respondents who declined, for whatever reason, to answer.

In the next question we asked respondents to provide some insight into how they rated their ability to tolerate treatment, whatever that may be. It was spread out, perhaps due to a wide range of treatments.

We then asked patients to assess their quality of life before and after treatment. For those that responded, the majority indicated at least a moderate improvement.

In our next-to-last question we asked the current state of their disease.

The final question was open-ended, where we asked respondents to complete the following sentence: “With hindsight, I would have appreciated knowing about …” We received a massive number of responses, and in our desire to give everyone their full and unedited voice, we invite you to read through the many heartfelt and authentic voices (listed in the order received). “With hindsight, I would have appreciated knowing about …”

CLOSING THOUGHTS

The responses we got from this study reinforce the complexity and diversity of amyloidosis. To each member of this community who stepped forward to answer the questions, we thank you. Gathering information, spreading awareness, and pushing for change leads us on the path to earlier diagnosis and an increase in life-saving research.

One repeating point people mentioned in the last question was a need for more information for doctors and members of the medical community, and for patients and caregivers who are dealing with this disease. If we continue to reach out to doctors, they will recognize the symptoms of amyloidosis and will think to test for it, leading to earlier diagnosis. If we continue to provide patients and caregivers with the most up to date information on treatments, resources, and where they can go for support, we can help arm those who are newly diagnosed. In this way, the sharing of information can be one of our most valuable tools.

Fight on, amyloidosis warriors. Fight on.

Is the age at diagnosis of AL Amyloidosis changing?

According to a paper published in 1995 based on a study of 474 AL Amyloidosis patients, the median age of diagnosis for patients was 64 years.¹Being curious as to whether this number has been lowering since then, we went to the Amyloidosis patient community to conduct an informal survey in early 2019.

We heard from 251 wonderful patients from the Facebook Amyloidosis Support Group in response to our question as to how old they were when they received their diagnosis.

Here is what we learned.

80% of patients were diagnosed between the ages of 40-69.
The largest group at 35% of patients surveyed, were diagnosed in their fifties.
The second largest group, at 24% of patients surveyed, were diagnosed in their sixties.
The third largest group, at 20% of patients surveyed, were diagnosed in their forties.
Just over 10% of patients were diagnosed before the age of 40.
The smallest group, at just over 8% of patients surveyed, were diagnosed over the age of 70.

We then organized the data by age to determine the occurrence rate by age range.

In answer to our question about the age at time of diagnosis, per our informal online survey of 251 AL Amyloid patients, the data indicated a mean (or average) age of 54.8 years and a median age of 56. The “mean” is the “average,” where you add up all the numbers and then divide by the number of numbers. The “median” is the “middle” value in the list of numbers. While not possible to definitively conclude, we acknowledge there may some age bias in our results towards younger ages due to the source being social media, and inaccuracies due to data being self-reported.

During the course of our research, we discovered other patient studies which we found informative. In 2015, an AL Amyloidosis patient experience survey was conducted online with 533 respondents.²Their results indicated a median age at diagnosis of 57. A more recent study in 2017 of 341 AL Amyloidosis patients from across the U.S. found the average age to be 60 years.³

We also posed the question “Do you think the median age upon diagnosis is lowering?” to doctors at some of the leading Amyloidosis centers in North America. Each of these doctors confirmed that the median is in the range of 57-65. However, one noted that “they are seeing far too many women in their 30’s and 40’s” in clinic. Another noted that they do seem to have an increase of younger patients, pointing out that this may indicate that the disease is being diagnosed in its earlier stages.

While ours was an informal online survey, the results are interesting and worth watching going forward. But we can all agree that this is what we want – that over time the age at diagnosis will lower. Not because the disease is spreading to a younger generation, but because it is being diagnosed in its earlier stages.

It is common for many Amyloid patients to suffer for years before they receive their diagnosis, delaying treatment while the disease progresses. If we can continue to spread awareness of the early warning signs to ensure that doctors across a multitude of disciplines have the latest information and diagnostic tools, hopefully, Amyloidosis will increasingly be diagnosed in its earlier stages. By doing so, treatment can begin sooner and, we believe, better patient outcomes can be achieved.

Mackenzie

A big shout out to Lori Grover for her collaboration on this piece. Lori 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. When not writing, she is mostly a stay at home mom, florist, crafter, lover of books and food.

⁽¹⁾ Kyle RA, Gertz MA. Primary systemic amyloidosis: clinical and laboratory features in 474 cases. Semin Hematol. 1995;32:45–59. [PubMed]

⁽²⁾ Lousada I, Comenzo RL, Landau H, Guthrie S, Merlini G. Light Chain Amyloidosis: Patient Experience Survey from the Amyloidosis Research Consortium. Advances in Therapy. 2015;32(10):920-928. doi:10.1007/s12325-015-0250-0.

⁽³⁾ McCausland KL, White MK, Guthrie SD, et al. Light Chain (AL) Amyloidosis: The Journey to Diagnosis. Patient. 2017;11(2):207-216.

Twelve of the most notable experts in the fight against this disease share, in their own unedited words, their views on the state of the disease. They voice what patients and the medical community need to do to push forward, and what lies ahead in the pipeline of potential treatment.

This unparalleled collection of messages from leading experts is a priceless read to understand the disease both today, and tomorrow.

We thank them for their words, and the passion and care they bring to their patients, in the fight against amyloidosis.

Thank you for taking the time to watch and read their stories.

Mackenzie

P.S. You can view the video, or for those preferring a larger font for easier reading, we have provided a transcript for download as well.

DOCTORS of Amyloidosis transcript (download)

What are diagnosis codes and what are they used for? Here’s a brief summary.

ICD, which stands for International Classification of Diseases, is a coding system implemented by the World Health Organization (WHO) to represent diagnoses. It was originally developed by the WHO in the 1970s, and periodically new revisions are released. On October 1, 2015, ICD-10 (meaning the 10^threvision) became effective and is used in almost every country worldwide, except the United States.

ICD-10 Codes in the United States

The National Center for Health Statistics (NCHS) is responsible for ICD-10 use in the United States. With the permission of the WHO, the NCHS has developed a modification of ICD-10 used only in the United States called ICD-10-CM, with the CM part standing for clinical modification.

Who Uses The Codes in the United States?

These codes are used by physicians, insurance companies, and other healthcare providers to classify and code all diagnoses, symptoms, and procedures in conjunction with hospital care in the United States. Every disease, disorder, injury, infection, and symptom has its own ICD-10-CM code.

What Are The Codes Used For?

These codes are used for everything from processing health insurance claims to tracking disease epidemics and compiling worldwide mortality statistics. According to AAPC, the more granular codes in ICD-10-CM provides multiple benefits, such as the following.

Better coordinate a patient’s care, both across providers and over time.
Improve the quality of measurement and reporting.
Facilitate the detection and prevention of fraud, waste, and abuse.
Lead to greater accuracy of reimbursement for medical services.
Improve data capture and analytics for:
- public health surveillance and reporting
- national quality reporting
- research and data analysis
- provide detailed data to enhance healthcare delivery

What Are The Codes for Amyloidosis?

ICD-10-CM allows for approximately 69,000 codes, up from approximately 13,600 in ICD-9-CM. All codes are alphanumeric, beginning with a letter and with a mix of numbers and letters thereafter. Valid codes may have three, four, five, six or seven digits. Specific to amyloidosis, here are the codes.

The first three characters define the category of the disease, disorder, infection or symptom. For example, codes starting with M00-M99 are for diseases of the musculoskeletal system and connective tissue (like rheumatoid arthritis), while codes starting with J00-J99 are for diseases of the respiratory system.

For amyloidosis, the disease is categorized E85 within the E00 – E89 group.

E00 – E89: Endocrine, nutritional and metabolic diseases

E85: Amyloidosis

Characters in positions 4-6 define the body site, severity of the problem, cause of the injury or disease, and other clinical details. A seventh character is an extension character used for varied purposes such as defining whether this is the initial encounter for this problem, a subsequent encounter, or sequela arising as a result of another condition.

E85.81 Light chain (AL) amyloidosis

E85.82 Wild-type transthyretin-related (ATTR) amyloidosis

E85.89 Other amyloidosis

From medical records to ICD-10-CM Codes to Usable Information

According to Very Well Health, medical coders read medical records, extract the diagnoses from those records, and translate the diagnoses into ICD-10-CM codes. While most coders have software to help them, the process can also be done by hand using books and coding manuals and can vary from health care system to health care system. Whether the medical coder uses software or a book, coding a medical record correctly requires education in the myriad rules used to choose and apply the ICD-10 codes, as well as close attention to detail.

Once the medical record has been coded by the coder, the data can be used in a number of ways.

The medical biller can send the coded claim to the health insurance company for processing.
Insurers may use the data to help predict future health care expenditures.
Researchers may use the data to determine disease prevalence across geographic areas, ages, or in conjunction with other diseases.

In the end, having richer and more granular data provides a number of benefits and brings value to the analysis, processing, and forecasting within the healthcare community.

Now if we can just get amyloidosis diagnosed earlier …

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Sources: AAPC, Very Well Health, World Health Organization, Centers for Disease Control and Prevention.

Time is of the essence when it comes to starting treatment for amyloidosis. However, diagnosing this disease early and properly remains a challenge.

Why is that?

Amyloidosis is often overlooked because the signs and symptoms can mimic those of more common diseases. This reality materially extends the time to diagnosis, which frequently spans years. All the while the disease is progressing in the body, doing damage. There is a shared view by some in the amyloidosis world that the actual incidence of this disease is far greater than reported, as there likely are patients that have died before the disease could be diagnosed.

Precise diagnosis is critical because treatment varies greatly, depending on the patient’s specific condition. Diagnosing as early as possible can help prevent further organ damage. In addition, the patient is often in a healthier state and can better tolerate a more aggressive treatment.

Diagnosing amyloidosis isn’t a single test, which is one big reason why it may be so elusive and time-consuming. First, the disease must be definitively confirmed, and second, it is critical to assess how and where it is affecting the body.

Laboratory tests are often the front line of identification but do not constitute a definitive diagnosis. Blood and urine may be analyzed for abnormal protein levels that may indicate amyloidosis. Depending on signs and symptoms, there may also be thyroid and liver function tests.

A biopsy, which can provide a positive identification of amyloid deposits in a piece of tissue, will definitively confirm the diagnosis. The biopsy may be taken from abdominal fat, bone marrow, or organs such as the liver or kidney where the disease is suspected. Tissue biopsies must be stained with Congo red, a dye which turns color if amyloid is present, causing it to have a unique appearance when viewed under a special microscope.

Imaging tests become important to identify and analyze organs affected by amyloidosis, helping to determine disease severity. For example, an echocardiogram may be used to assess the size and function of the heart.

Only then, once the doctor confirms the diagnosis of amyloidosis and understands the extent of the disease, can a proper treatment regimen be developed.

In this video, Mackenzie Boedicker and Dr. Betsy Mencher (caregiver for her husband) share their experiences and discuss the importance of an early and accurate diagnosis of amyloidosis.

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Source: Boston University Amyloidosis Center, Mayo Clinic

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Amyloidosis By The Numbers

AL Amyloidosis: Age at Diagnosis Survey

DOCTORS of Amyloidosis

Amyloidosis ICD Diagnosis Codes

Diagnosing Amyloidosis

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