Amyloidosis (am-uh-loi-DO-sis) is a disease that occurs when substances called amyloid proteins build up in your organs. Amyloid is an abnormal protein usually produced by cells in your bone marrow that can be deposited in any tissue or organ.
Amyloidosis can affect different organs in different people, and there are different types of amyloid. Amyloidosis frequently affects the heart, kidneys, liver, spleen, nervous system and gastrointestinal tract.
Amyloidosis is rare, and the exact cause is often unknown. Treatments are available to help you manage your symptoms of amyloidosis and limit the production of amyloid protein.
Signs and symptoms of amyloidosis depend on which of your organs are affected. When signs and symptoms are evident, they may include:
When to see a doctor
If you persistently experience any of the signs or symptoms that may be associated with amyloidosis, see your doctor to determine whether the underlying cause may be amyloidosis or another problem.
Doctors classify amyloidosis into three major forms:
The exact cause of primary amyloidosis is unknown, but doctors do know that the disease begins in your bone marrow. In addition to producing red and white blood cells and platelets, your bone marrow makes antibodies — proteins that protect you against infection and disease. After antibodies serve their function, your body breaks them down and recycles them. Amyloidosis occurs when cells in the bone marrow produce antibodies that can’t be broken down. These antibodies then build up in your bloodstream. Ultimately, they leave your bloodstream and can deposit in your tissues as amyloid, interfering with normal function.
Anyone can develop primary amyloidosis, but certain factors place you at greater risk:
The severity of amyloidosis depends on which organs the amyloid deposits affect. Potentially life-threatening situations include kidney failure and congestive heart failure:
If amyloid deposits affect the nerves that control your bowel function, you may experience periods of alternating constipation and diarrhea. Sometimes the condition affects nerves that control blood pressure, and you may experience dizziness or near fainting when standing too quickly as a result of a drop in your blood pressure.
The signs and symptoms of amyloidosis are often vague and mimic those of other conditions, so it can be difficult to diagnose amyloidosis. Your symptoms may first prompt you to see your family doctor or a general practitioner. However, you may then be referred to a doctor who specializes in blood disorders (hematologist).
Here’s some information to help you get ready for your appointment, and what you might expect from your doctor.
What you can do
Your time with your doctor is limited, so preparing a list of questions can help you make the most of your time together. List your questions from most important to least important in case time runs out. For amyloidosis, some basic questions to ask your doctor include:
In addition, don’t hesitate to ask questions during your appointment at any time that you don’t understand something.
What to expect from your doctor
Your doctor is likely to ask you a number of questions. Being ready to answer them may reserve time to go over points you want to spend more time on. Your doctor may ask:
In order to rule out other conditions, your doctor may start by conducting:
If blood or urine tests detect an abnormal protein — which could indicate amyloidosis — your doctor may order a tissue biopsy to make a definitive diagnosis.
Biopsy may involve several samples
In a tissue biopsy, your doctor uses a needle to remove a small sample of tissue. If your doctor suspects that you have systemic amyloidosis — meaning it affects several parts of your body rather than just one organ — the biopsy may be taken from your abdominal fat, bone marrow, gums, salivary glands, skin or rectum. The sample is then examined under a microscope in a laboratory to check for signs of amyloid. These biopsies are conducted in an outpatient setting with a numbing medication (local anesthetic).
Occasionally, tissue samples may be taken from other parts of your body, such as your heart, liver or kidney, to help diagnose the specific organ affected by amyloidosis. These procedures may require hospitalization.
Though there’s no cure for amyloidosis, treatment may help manage signs and symptoms and limit further production of amyloid protein.
Treating primary systemic amyloidosis
Researchers are studying several therapies to determine their place in the treatment of amyloidosis. Ask your doctor whether these treatments are appropriate for you. For primary systemic amyloidosis, some of these include:
Researchers are investigating other types of chemotherapy regimens for amyloidosis. Several medications that are used in the treatment of multiple myeloma are being tested to see if they’re effective in treating amyloidosis. These include bortezomib (Velcade), thalidomide (Thalomid) and a thalidomide derivative called lenalidomide (Revlimid). These drugs may be used alone or in combination with dexamethasone.
Ask your doctor what clinical trials may be available to you. Undergoing chemotherapy for amyloidosis may cause side effects similar to those of chemotherapy for cancer treatment, such as nausea, vomiting, hair loss, infection and extreme fatigue.
Treating secondary amyloidosis
If you have secondary amyloidosis, the goal of therapy is to treat the underlying condition — for example, taking an anti-inflammatory medication for inflammatory arthritis.
Treating hereditary amyloidosis
For hereditary amyloidosis, one possible therapy may be liver transplantation because the protein that causes this form of amyloidosis is made in the liver. In addition, researchers are investigating new drugs to stop the progression of inherited amyloidosis.
Because amyloidosis can cause a number of complications, you may also need treatment for those specific conditions, based on your signs and symptoms and affected organs.
For example, if amyloidosis affects your heart or kidneys, you may be asked to follow a low-salt diet to control fluid retention. Or your doctor may prescribe diuretics and other medications. In some cases, your doctor might prescribe medication for pain control.
If any of your organs are severely damaged from amyloid deposits, you may need an organ transplant. Although such a transplant won’t cure you because amyloid deposits could potentially collect in the new organ as well, a transplant could prolong your life.
When faced with a serious chronic illness, such as amyloidosis, many people turn to family and friends. However, others may find support and encouragement from groups that share the same illness. Ask your doctor about local support groups, or contact Amyloidosis Support Groups toll-free at 866-404-7539 or through its website.