The ABCs of Amyloidosis: The Journey From Diagnosis to Treatment

This article is for people who have amyloidosis, or anyone who wants to learn more about this disease. The goal of this patient education activity is to inform you about amyloidosis, so that you can take a proactive role in your treatment and care.

You will learn about:

• What amyloidosis is

• Signs and symptoms of amyloidosis

• How amyloidosis is diagnosed

• Different types of amyloidosis

• Available treatments for amyloidosis

• Tips for living with amyloidosis

• Questions to ask your doctor about amyloidosis

“At the age of 26, I started to experience numbing sensations in my arm and hands. I thought it was from playing the guitar, but I also knew that one of the symptoms of amyloidosis was carpal tunnel syndrome. My mom had issues with her hands before she got sick.

In 2006, I went for genetic testing and 6 weeks later, my doctor confirmed that I carried the TTR gene. A year later, I went in for my “fat pad” biopsy and was officially diagnosed with hereditary amyloidosis after protein deposits (called “amyloid fibrils”) were discovered in my tissue...

...I started treatment and kept up with my doctor visits – and for a while, things were going well. But then I started having other symptoms – sexual dysfunction, urinary incontinence, dizziness, fatigue, and nerve pain. In 2014, an echocardiogram and cardiac MRI suggested early signs of amyloidosis in my heart.

My mom, aunt and grandmother all died of hereditary amyloidosis. My sister recently found out that she has the genetic mutation and I worry that her daughter has a 50/50 chance to inherit this disease.”

Amyloidosis is a protein disorder in which normal proteins change shape (forming an “amyloid”) and group together to form long fibrils. As Dylan mentioned, these amyloid fibrils deposit in your organs, and they can change the normal function of important organs, such as your heart (called “cardiac amyloidosis”).

Amyloidosis can result from a genetic mutation, advancing age, a bone marrow disorder, or an inflammatory condition.

There are different types of amyloidosis, and each disease is very different. As shown in the picture on the right, hereditary amyloidosis starts with protein made by the liver.

Types of Amyloidosis
AL (caused by a disorder in the bone marrow) Organs affected: heart, kidneys, skin, nerves, stomach, liver
AA (caused by another illness) Associated with chronic inflammatory condition (eg, rheumatoid arthritis, inflammatory bowel disease, infections) Mostly affects the kidneys
ATTR Changes to TTR protein can lead to amyloidosis in the heart, wrist (carpal tunnel syndrome), spine, and/or nerves a) hATTR (hereditary amyloidosis) Mutation in TTR gene (which tells the liver to make TTR protein) can be passed from one generation to the next b) wtATTR (wild-type amyloidosis) Normal TTR protein breaks down with age and forms amyloids

Amyloidosis can affect 1 or more organs. The signs and symptoms depend on the type of amyloidosis that you have and where the amyloid proteins are located in your body. For example, for hereditary amyloidosis, symptoms can include:

• Swelling of ankles and legs

• Feeling extremely tired and weak

• Shortness of breath

• Numbness, tingling, or pain in your hands, feet, back, or wrist (carpal tunnel syndrome)

• Diarrhea (possibly with blood) or constipation

• Unexplained weight loss

• Enlarged tongue

• Skin changes or bruising (purple patches around the eyes)

• Irregular heartbeat

• Difficulty swallowing

Signs and symptoms of amyloidosis may occur at a later stage, and they can be similar to other diseases, making it difficult to diagnose.

Many tests can be done to diagnose amyloidosis and to find out the type of amyloidosis that you have. After diagnosis, you will need routine tests to monitor amyloid protein build up and organ function.

• Biopsy: A small piece of tissue is taken from the bone marrow, kidney, heart, abdomen (“fat pad”), or the affected organ. This test confirms amyloidosis diagnosis

• Laboratory tests: Blood and urine samples can tell how your kidneys, liver, or other organs are working and what your amyloid protein count is

• Imaging tests: To monitor how your heart is doing, an electrocardiogram (for heart rhythm) or echocardiogram, cardiac MRI, or nuclear scan (for heart structure and function) may be performed

There are treatments to help you manage your symptoms, slow down the disease, and lower the amount of amyloid protein made in your body. The type of amyloidosis that you have determines how it is treated:

• Light chain (AL) amyloidosis: Chemotherapy plus steroid medicines, with a possible stem cell transplant. Medicines called immunomodulators or proteasome inhibitors are also used

• Amyloid A protein (AA) amyloidosis: Biologic agents (tumor necrosis factor [TNF] α, anti-interleukin [IL]-1, anti-IL-6) to reduce amyloid deposits and treat underlying inflammatory condition

• Transthyretin (ATTR) amyloidosis: Medicines are available that decrease production of TTR or prevent TTR from forming amyloid proteins

Some medicines have been approved by the Food and Drug Administration (FDA) to treat hereditary or wild-type ATTR amyloidosis.

Medicines to Treat ATTR Amyloidosis
Type of Medicine	How it Works
ATTR silencers Examples: patisiran (Onpattro®), inotersen (Tegsedi®)	Decrease production of TTR in the liver These agents are FDA approved for patients who have hereditary ATTR with nerve pain
ATTR stabilizers Examples: tafamidis (Vyndamax™), tafamidis meglumine (Vyndaqel®); diflunisal and AG10 are being tested and currently not approved.	Prevents TTR protein from breaking apart and forming amyloid fibrils Both tafamidis agents are FDA approved to reduce heart problems in people with hereditary or wild-type ATTR Diflunisal is being tested in patients with hereditary ATTR with nerve pain AG10 is being tested in patients with ATTR cardiomyopathy

Amyloidosis is a lifelong disease that can be managed by recognizing the signs and symptoms and starting treatment early. It is also important to take care of your body and your heart.

• If you have nerve pain, ask your doctor which exercises would be okay for you to do

• Eat a healthy diet with increased fruits, vegetables, and grains

• Keep your blood sugar in control if you have diabetes

• Limit alcohol

• Manage stress

• Get 7 to 9 hours of sleep nightly

• What are my treatment options?

• What are the side effects of the medications?

• How long will the treatment last?

• How often should I get tests done?

• How will I know if the amyloidosis is getting worse?

• How can I better manage my amyloidosis?

Congratulations!

You have successfully completed the program: The ABCs of Amyloidosis: The Journey From Diagnosis to Treatment

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Amyloidosis Foundation Patient Resources

More About Dylan

Amyloidosis Foundation Website