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What Is Amyloidosis?

Amyloidosis is a condition that’s caused by an abnormal protein in your body. This abnormal protein is called amyloid, and it can affect one or several organs. Because many organs could be affected, you might need several different specialists to evaluate you.

What Is an Amyloid Protein?

An amyloid protein is the protein that causes amyloidosis. It’s different from other normal, healthy types of protein that form in your body. Amyloid usually forms inside your bone marrow.

After it’s formed, amyloid can then collect in any of your organs or tissues. Most often, the amyloid protein builds up in your liver, kidneys, or heart.

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What Causes Amyloidosis?

  • Primary amyloidosis (also called AL or light chain amyloidosis) happens when your bone marrow produces an abnormal protein
  • Familial amyloidosis happens when an abnormal protein (called mutant transthyretin) builds up in your liver.
  • Senile amyloidosis happens when a “wild-type” transthyretin protein doesn’t fold correctly. This causes the protein to deposit into your tissues.
  • Secondary amyloidosis. This is usually related to chronic diseases that cause inflammation, like rheumatoid arthritis or chronic infections that deposit inflammatory proteins.

How Does Amyloidosis Affect the Body?

Amyloidosis can affect each person differently. How amyloidosis will affect you depends on how much of the amyloid protein is inside your organs. Patients can have several signs and symptoms:

  • Heart: shortness of breath, swelling of the legs, fatigue
  • Kidney: swelling of the legs, abnormal kidney tests
  • Neurological: numbness or tingling in hands or feet
  • Skin: easy bruising, purplish patches around the eyes
  • Gastrointestinal: diarrhea or constipation

How Is Amyloidosis Diagnosed?

In addition to a complete medical history and physical exam, your doctor may use any of the following tests to diagnose amyloidosis:

  • Echocardiogram. An echocardiogram is a noninvasive test that uses sound waves to see how well your heart’s chambers and valves move. The echo sound waves create an image on a computer monitor while a doctor passes an ultrasound transducer over your heart.
  • Urine labs. Urine samples measure which proteins are in your urine. Urine tests also see how well your kidneys are working.
  • Blood labs. Blood samples measure which proteins are in your blood. They also evaluate the function of several organs.
  • Biopsies. A biopsy is when doctors remove and then analyze a small sample of tissue. Depending on which organs are affected, you will need either a skin, bone marrow, heart, or kidney biopsy to determine the type of amyloidosis you have.

Treatment for Amyloidosis

The type of amyloidosis you have, as well as what’s causing it, will guide most of your treatment. Options may include:

  • medical management,
  • chemotherapy,
  • solid organ transplantation, and/or
  • peripheral blood stem cell transplantation (bone marrow transplantation).

Clinical Trials

For more information about clinical trials, contact the Utah Amyloidosis Nurses at amyloidosis@hci.utah.edu.

CARDIO-TTRansform

A Study to Evaluate the Efficacy and Safety of AKCEA-TTR-LRx in Participants With Transthyretin-Mediated Amyloid Cardiomyopathy (ATTR CM)

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A Study to Evaluate the Efficacy and Safety of Daratumumab

in Combination With Cyclophosphamide, Bortezomib and Dexamethasone (CyBorD) Compared to CyBorD Alone in Newly Diagnosed Systemic Amyloid Light-chain (AL) Amyloidosis
 
 
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ATTR Expanded Access Program (EAP)

by Ionis for patients with Hereditary Transthyretin amyloidosis (hATTR) associated polyneuropathy
 
 
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Patient Resources

Amyloidosis Support Group

For patients, families, and friends

Join us for:

  • Q & A sessions with amyloidosis experts
  • Tips to maintain quality of life with amyloidosis Information about clinical trials and therapies
  • Group discussions
Learn More About the Support Group

3rd Utah Amyloidosis Symposium

The objective of the Utah Amyloidosis Symposium is to develop a forum that will catalyze, advocate, and provide education that promotes change, development and improvement for the early diagnosis and management of amyloidosis.

View the Amyloidosis Symposium

Meet Our Patients

The Intersection of Medical Neglect and Good Fortune

 Laurence Parker, an associate dean in the Honors College at University of Utah, knew something wasn't right. Tests confirmed he had heart hereditary amyloidosis. After his diagnosis, he went from being a professor with a new job to a patient in need of a heart transplant.

Read Laurence's Story

New Heart Saves Patient With Amyloidosis

In 2017, Ray Groth, a competitive cross-country skier, was diagnosed with amyloidosis, a very serious but rare heart condition that has no cure. Back then, there was no way to slow or stop the disease progression. Without a heart transplant, his condition would become life-threatening.

Read Ray's Story

Contact Us

We want to help not just our patients, but the amyloidosis community. Feel free to contact us with any questions or advice:

  • Physicians  Contact us for new patient referrals for advice on evaluating or managing all types amyloidosis patients
  • Patients  Contact us for information about all types of amyloidosis and treatment recommendations, information about our multidisciplinary program approach or to self-refer to our program for amyloidosis management
  • Others  Contact us for any information about amyloidosis or our program

For More Information, Call or Email Us:

Kylee Lewis

New Patient Coordinator
kylee.lewis@hci.utah.edu
801-646-4225

Utah Amyloidosis Nurses