Overview

What Is Amyloidosis?

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.

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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.

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).

Amyloidosis Program

Our staff works together with each patient individually to create a treatment that best suits your needs. Treatment can include medications, lifestyle changes, chemotherapy, or, if needed, organ transplant.

Services

  • Comprehensive evaluation
  • Counseling
  • Skin, heart, kidney, and bone marrow biopsies
  • Advanced imaging with cardiac MRI and strain echocardiography
  • Advanced tissue staining and analysis
  • Genetic testing
  • Innovative treatment options
  • Targeted pharmacotherapy including chemotherapy
  • Transplant surgery for peripheral stems cells, heart, kidney, or liver
  • Participation in research clinical trials (including transthyretin familial and senile amyloidosis)

Contact Us

For more information, call or email us:

Email: amyloidosis@hci.utah.edu

Phone: 801-213-5723

Chelsea Watts
New Patient Coordinator

Email: chelsea.watts@hci.utah.edu

Phone: 801-213-5723