What Is Amyloidosis?
Amyloidosis is a rare disease caused by abnormally-shaped proteins in your body. These abnormal proteins are called amyloid fibrils. They are are hard for your body to break down and get rid of.
Fibrils can build up and cause damage to your organs or tissues. Damage is most common in the liver, kidneys, and heart.
There are different forms of amyloidosis. The two most common are:
-
Light-chain, or AL amyloidosis, and
-
Transthyretin, or ATTR amyloidosis.
What Causes Amyloidosis?
Abnormal amyloid fibrils (proteins) are responsible for amyloidosis. Fibrils can collect in any of your organs or tissues. Where the fibrils collect will affect your symptoms.
For some people, a specific gene mutation can cause amyloidosis. Certain conditions can also trigger amyloidosis.
Find an Amyloidosis Specialist Near Me
Symptoms of Amyloidosis
Amyloidosis can affect each person differently. How amyloidosis will affect you depends on how much of the amyloid protein is inside your organs. There are several common symptoms of amyloidosis:
-
Fatigue
-
Weight loss
-
Anemia
-
Weakness
-
Joint pain
Symptoms of amyloidosis depend on where the amyloid fibrils builds up in your body. Amyloidosis can involve many organs or just one:
-
Heart
-
Irregular heartbeat
-
Shortness of breath
-
Fluid buildup
-
Chest pain
-
-
Kidneys
-
Foamy urine or fluid buildup
-
-
Liver
-
Pain or swelling in the abdomen
-
-
Gastrointestinal system
-
Diarrhea
-
Constipation
-
Blood in the stool
-
Acid reflux
-
Thickened tongue
-
-
Nervous system
-
Numbness
-
Tingling or weakness in the arms or legs
-
Dizziness
-
Problems with balance
-
Sweating
-
Sexual problems
-
How severe your symptoms are depends on the extent of damage. See your doctor right away if you experience any of these symptoms.
How Is Amyloidosis Diagnosed?
Your care team will evaluate your overall health. They will determine the specific type of amyloidosis you have and which organs might have amyloid protein deposits. Your amyloidosis team will also evaluate the extent of your organ damage.
-
Diagnosing amyloidosis may require several tests:
-
Blood and urine tests to look for amyloid proteins.
-
Bone marrow and tissue biopsies (samples) to know if amyloidosis has affected your organs.
-
Imaging tests such as an ultrasound, echocardiogram, or MRI to check your heart and organ function.
Treating Amyloidosis
Treatment depends on the cause of amyloidosis. AL and ATTR amyloidosis require different treatment methods. Based on what type you have, your health care provider will create a care plan specific to your needs.
AL Amyloidosis Treatment
Treatment for AL amyloidosis may include the following:
-
Chemotherapy or Immunotherapy
-
As part of your treatment plan, we may give you chemo or immunotherapy medicines. You can recveive treatment in our clinic through an IV or an injection or take them in pill form at home.
-
-
Bone Marrow Transplant
-
During a bone marrow transplant, we collect healthy stem cells from you or a donor. We then use medicine to destroy your affected bone marrow and replace it with the healthy cells. Receiving a bone marrow transplant will require you to stay in the hospital or live close by.
-
ATTR Amyloidosis Treatment
Treatment for ATTR amyloidosis may include the following:
-
Medications
-
ATTR can sometimes respond well to medication. These medications work to stop the production of amyloid protein or reduce the buildup of it.
-
-
Organ Transplant
-
Depending on your case, you may be eligible for a heart, liver, or kidney transplant. We will work closely with you and a transplant team to guide you through this process.
-
Lifestyle changes such as diet and exercise habits can improve how you feel. They can also help make your treatment more effective, and reduce side effects. Talk to your care team about how to make changes to make living with amyloidosis more manageable.
Additional Treatment Options
Supportive Care
Your amyloidosis symptoms and treatment side effects can affect your quality of life. Our multispecialty program offers support throughout your treatment. Learn more about our amyloidosis program.
Clinical Trials
At University of Utah Health, patients have access to new therapies that may not yet be widely available through clinical trials. We may offer you the choice to take part in a research study or clinical trial. These studies and trials are optional and do not change the quality of your care. Whether or not you participate in a trial, we will give you the best treatment and care available.
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)
A Study to Evaluate the Efficacy and Safety of Daratumumab
ATTR Expanded Access Program (EAP)
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.
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.
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:
Sarah Nelsen
New Patient Coordinator
sarah.nelsen@hci.utah.edu
801-213-5723