Amyloidosis is not cancer, but it is a serious, potentially life-threatening condition that can occur because of cancer. The basis of amyloidosis is the amyloid, which is an abnormal protein that enters tissues or organs. When enough amyloid proteins are present in an organ to interfere with its functioning and cause symptoms, the condition called amyloidosis results.
Plasma cells in the bone marrow make the amyloid proteins. In normal situations, these cells make antibodies that protect the body from diseases or infection. The antibodies are created, used, and then broken down and recycled by our bodies. In amyloidosis, the plasma cells produce antibodies that cannot be broken down. These abnormal proteins leave the bloodstream and eventually enter tissues and organs.
Only in the past few decades have doctors and researchers begun to understand the nature of amyloid proteins and how they can cause damage.
There are three major forms of amyloidosis:
Primary amyloidosis (also known as AL amyloidosis). Primary amyloidosis is rare and is diagnosed when there is no associated disease. The heart, lungs, skin, tongue, thyroid gland, and intestinal tract may be involved. This is the most common type of amyloidosis in the United States.
Secondary amyloidosis (also known as AA amyloidosis). Secondary amyloidosis may be associated with a chronic disease, such as diabetes, tuberculosis, rheumatoid arthritis, or cancer (including multiple myeloma or Hodgkin lymphoma). It may also accompany aging. Its amyloid proteins may stem from an abnormal precursor protein. The spleen, liver, kidneys, adrenal glands, and lymph nodes may be involved.
Hereditary amyloidosis (also known as ATTR amyloidosis). Hereditary amyloidosis occurs in families. It may cause peripheral sensory and motor neuropathy (including numbness, weakness, and tingling of the extremities), carpal tunnel syndrome, and eye abnormalities. There may also be a genetic abnormality that can cause the amyloid proteins to appear in affected families.
Other, rarer types of amyloidosis include beta 2-microglobulin amyloidosis and localized amyloidosis. In localized amyloidosis, the amyloid protein is found in one part of the body only, and the cells that make it are found in the affected tissue rather than in the bone marrow.
Statistics
Primary amyloidosis is rare, and approximately 1,200 to 3,200 new cases are diagnosed each year in the United States. Hereditary amyloidosis occurs in approximately 1 in 100,000 white persons in the United States.
People with amyloidosis may experience the following symptoms. Sometimes, people with amyloidosis do not show any of these symptoms. Or, these symptoms may be caused by a medical condition that is not amyloidosis. If you are concerned about a symptom on this list, please talk with your doctor.
Generally, symptoms of amyloidosis are determined by the organ or system that is affected. For example:
Amyloidosis in the kidneys will hinder the kidneys' ability to filter wastes and break down proteins. Therefore, large amounts of protein may be present in the urine, or the kidneys may fail to function.
In the liver, amyloidosis may cause the liver to greatly increase in size and function abnormally.
Amyloidosis of the heart may cause arrhythmia (irregular heart beat), enlarge the heart, and cause poor heart function.
Amyloidosis of the gastrointestinal (digestive) tract may cause problems with the digestion and absorption of food nutrients, bleeding, obstructions, thickened tongue, and problems with the esophagus, including gastrointestinal reflux disease (GERD).
A goiter (a noncancerous enlargement of the thyroid gland) may result from amyloidosis of the thyroid gland.
Problems breathing, including shortness of breath, may occur from amyloidosis in the lungs.
Many tests may be used to diagnose amyloidosis and determine which parts of the body are affected. Some tests may also determine which treatments may be the most effective. A biopsy is the only way to make a definitive diagnosis of amyloidosis. If a biopsy is not possible, the doctor may suggest other tests that will help make a diagnosis. Imaging tests may be used to find out whether organs such as the heart or kidneys are affected. Your doctor may consider these factors when choosing a diagnostic test:
Age and medical condition
Severity of symptoms
Previous test results
In addition to a physical examination, the following tests may be used to diagnose amyloidosis:
Heart evaluation. A heart evaluation, including an electrocardiogram (EKG or ECG) and an echocardiogram (echo), will look for structural abnormalities of the organ and motion of the walls of the heart.
Laboratory tests. Blood, urine, and bone marrow tests may also be done.
Biopsy. A biopsy is the removal of a small amount of tissue for examination under a microscope. The sample removed from the biopsy is analyzed by a pathologist (a doctor who specializes in interpreting laboratory tests and evaluating cells, tissues, and organs to diagnose disease). A biopsy may be taken from the rectum, abdominal fat, or bone marrow. Biopsies may also be taken from the liver, nerves, heart, or kidneys. These are more invasive procedures and may require hospitalization.
Ultrasound. An ultrasound uses sound waves to create a picture of the internal organs. An ultrasound of the abdominal area may be necessary to look for enlarged organs.
The treatment of amyloidosis depends on many factors and the patient's overall health. In many cases, a team of doctors will work with the patient to determine the best treatment plan.
Often, the most effective treatment for secondary amyloidosis is the treatment and control of the underlying disease.
Medication and chemotherapy
Medication may be used to control the problems caused by or associated with amyloidosis. Steroids, alone or in combination with other drugs, have been shown to be effective.
Chemotherapy is most commonly used for the treatment of cancer. However, chemotherapy is also useful in other conditions, including amyloidosis, when it is used to kill the abnormal plasma cells. Some of the most common chemotherapy used to treat amyloidosis is chlorambucil (Leukeran), melphalan (Alkeran), and cyclophosphamide (Cytoxan, Neosar). Side effects for this type of standard treatment, such as nausea, vomiting, and fatigue, are fairly minimal. Low levels of red blood cells (anemia) can occur with melphalan and similar drugs. Late effects (long-term side effects) are uncommon with these types of treatments.
Newer drugs being evaluated for amyloidosis include lenalidamide (Revlimid) and bortezomib (Velcade) and eprodisate (Fibrillex). These drugs are currently being used in clinical trials to determine their effectiveness in treating amyloidosis.
The medications used to treat amyloidosis are continually being evaluated. Talking with your doctor is often the best way to learn about the medications you've been prescribed, their purpose, and their potential side effects or interactions with other medications. Learn more about your prescriptions through Cancer.Net's Drug Information Resources, which provides links to searchable drug databases.
Biologic therapy (also called immunotherapy)
Alpha interferon is a form of biologic therapy given as injections under the skin. This is sometimes used to help relieve symptoms caused by amyloidosis, but it can have significant side effects including fatigue, depression, and flu-like symptoms.
Surgery
Surgery, including organ transplantation, may be used to treat amyloidosis. Liver transplantation has been effective in treating people with certain types of hereditary amyloidosis.
Dietary therapy
Dietary therapy may be used to decrease the production of amyloid proteins or to lessen the burden on affected organs. For example, if amyloidosis affects the heart or kidneys, a low-sodium diet may be recommended. However, even though amyloid is a protein, there is no link between dietary intake of proteins and amyloidosis.
Stem cell transplantation
In some cases, stem cell transplantation may be used to introduce healthy bone marrow cells that will not make amyloid proteins. Stem cell transplantation for amyloidosis is still under investigation in clinical trials. Learn more about this procedure by reading the Cancer.Net Feature series, Understanding Bone Marrow and Stem Cell Transplantation.
Again, for secondary amyloidosis, treatment and control of the underlying disease is the primary treatment.
Doctors and scientists are always looking for better ways to treat patients with amyloidosis. A clinical trial is a way to test a new treatment in order to prove that it is safe, effective, and possibly better than a standard treatment. Patients who participate in clinical trials are among the first to receive new treatments before they are widely available. However, there is no guarantee that the new treatment will be safe, effective, or better than a standard treatment.
Patients decide to participate in clinical trials for many reasons. For some patients, a clinical trial is the best treatment option available. Because standard treatments are not perfect, patients are often willing to face the added uncertainty of a clinical trial in the hope of a better result. Other patients volunteer for clinical trials because they know that finding new drugs and other therapies is the only way to make progress in treating amyloidosis. Even if they do not benefit directly from the clinical trial, their participation may benefit future patients with amyloidosis.
To join a clinical trial, patients must complete a learning process known as informed consent. During informed consent, the doctor should list all of the patient's options, so the person understands how the new treatment differs from the standard treatment. The doctor must also list all of the risks of the new treatment, which may or may not be different from the risks of standard treatment. Finally, the doctor must explain what will be required of each patient in order to participate in the clinical trial, including the number of doctor visits, tests, and the schedule of treatment. Learn more about clinical trials, including patient safety, phases of a clinical trial, deciding to participate in a clinical trial, questions to ask the research team, and links to find cancer clinical trials.
Below are some of the side effects that are more common to amyloidosis and its treatments. For more detailed information on managing these and other side effects, visit the Cancer.Net Managing Side Effects section.
Anemia. Anemia is common in people with amyloidosis, especially those receiving chemotherapy. Anemia is an abnormally low level of red blood cells (RBCs). RBCs contain hemoglobin (an iron protein) that carries oxygen to all parts of the body. If the level of RBCs is too low, parts of the body do not get enough oxygen and cannot work properly. Most people with anemia feel tired or weak. The fatigue (tiredness) associated with anemia can seriously affect quality of life and make it more difficult for patients to cope with cancer and treatment side effects.
Depression. A normal reaction to an amyloidosis diagnosis is one of shock, disbelief, and denial. Many patients experience fears around an illness that are quite normal: fears of disability or disfigurement, loss of independence or desirability, and death and the dying process. Symptoms of anxiety or depression, irritability, and problems with sleep or appetite often follow. Usually, patients begin to feel better within weeks or several months and experience an increased sense of control. If this period does not resolve, serious depression can develop that requires treatment.
Fatigue (tiredness). Fatigue is extreme exhaustion or tiredness, and is a common problem that people with amyloidosis experience. More than half of patients experience fatigue during chemotherapy or radiation therapy. Patients who feel fatigue often say that even a small effort, such as walking across a room, can seem like too much. Fatigue can seriously impact family and other daily activities, can make patients avoid or skip treatments, and may even impact the will to live.
After treatment for amyloidosis ends, talk with your doctor about developing a follow-up care plan. This plan may include regular physical examinations and/or medical tests to monitor your recovery for the coming months and years.
Long-term follow up for amyloidosis includes regular and careful monitoring of liver and kidney function, as well as control of the underlying disease, such as rheumatoid arthritis (in the case of secondary amyloidosis).
People recovering from amyloidosis are encouraged to follow established guidelines for good health, such as maintaining a healthy weight, eating a balanced diet, and having recommended cancer screening tests. Talk with your doctor to develop a plan that is best for your needs. Moderate physical activity can help rebuild your strength and energy level. Your doctor can help you create an appropriate exercise plan based upon your needs, physical abilities, and fitness level. Learn more about Healthy Living After Cancer.
Research for amyloidosis is ongoing. The following advances may still be under investigation in clinical trials and may not be approved or available at this time. Always discuss all diagnostic and treatment options with your doctor.
New combinations of steroids and chemotherapy are being explored and treatments, such as stem cell transplantation, which are used in clinical trials at some medical centers, may soon be offered with greater availability.
Regular communication with your doctor is important in making informed decisions about your health care. Consider asking the following questions of your doctor:
What type of amyloidosis do I have?
What are my treatment options?
What clinical trials are open to me?
What will be the progression of amyloidosis? Is it possible to slow the progression? Is it curable?
What treatment, or combination of treatments, do you recommend? Why?
Can my symptoms be controlled with medication alone?
What are the possible short-term and long-term side effects of each treatment?
How can I keep myself as healthy as possible during treatment?
What is my prognosis?
What follow-up tests will I need, and how often will I need them?
What support services are available to me? to my family?
Amyloidosis Foundation
7151 N. Main Street
Suite 208
Clarkston, MI 48346
Phone: 248-922-9610
Toll Free: 877-AMYLOID (877-269-5643) www.amyloidosisresearchfoundation.org
Amyloidosis Support Groups Inc.
232 Orchard Drive
Wood Dale, IL 60191
Phone: 630-350-7539
Toll Free: 866-404-7539 www.amyloidosissupport.com
Amyloidosis Support Network
1490 Herndon Lane
Marietta, GA 30062
Phone: 770-977-1500
Toll Free: 800-689-1239 www.amyloidosis.org
National Organization for Rare Disorders
55 Kenosia Ave.
P.O. Box 1968
Danbury, CT 06813
Toll Free: 800-999-6673 (voicemail only) www.rarediseases.org
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