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,
- solid organ transplantation, and/or
- peripheral blood stem cell transplantation (bone marrow transplantation).
For more information about clinical trials, contact the Utah Amyloidosis Nurses at email@example.com.
Meet Our Patients
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