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What is Amyloidosis?


Amyloidosis 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 many 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.


Signs and symptoms of amyloidosis depend on which of your organs are affected. When signs and symptoms are evident, they may include:

  • Swelling of your ankles and legs
  • Weakness
  • Significant weight loss
  • Shortness of breath
  • Numbness or tingling in your hands or feet
  • Diarrhea or constipation
  • Difficulty swallowing
  • Feeling full quickly
  • Severe fatigue
  • An enlarged tongue (macroglossia)
  • Skin changes, such as thickening or easy bruising
  • Purplish patches (purpura) around the eyes
  • An irregular heartbeat
  • Protein in the urine

Kinds Of Amyloidosis

Doctors classify amyloidosis into three major forms:

Primary Amyloidosis.

This most common form of amyloidosis can affect many areas, including your heart, kidneys, liver, spleen, nerves, intestines, skin, tongue and blood vessels. Primary amyloidosis isn’t associated with other diseases — except for multiple myeloma, a form of bone marrow cancer, in a minority of cases.

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.

Secondary Amyloidosis.

This form occurs in association with chronic infectious or inflammatory diseases, such as tuberculosis, rheumatoid arthritis or osteomyelitis, a bone infection. It primarily affects your kidneys, spleen, liver and lymph nodes, though other organs may be involved. Treatment of the underlying disease may help stop progression of this form of amyloidosis.

Hereditary (familial) amyloidosis.

As the name implies, this form of amyloidosis is inherited. This type often affects the liver, nerves, heart and kidneys.

Risk factors

Anyone can develop primary amyloidosis, but certain factors place you at greater risk:

  • Age. The majority of people who develop amyloidosis are older than 40.
  • Other diseases. You may be at increased risk if you have a chronic infectious or inflammatory disease. Up to 15 percent of people who have multiple myeloma — a form of bone marrow cancer — also develop amyloidosis.
  • Family history. Some cases of amyloidosis are inherited.
  • Kidney dialysis. If you have kidney disease requiring kidney dialysis, you have an increased risk of dialysis-associated amyloidosis. This is because dialysis can’t remove large proteins from the blood, so large, abnormal proteins may build up and deposit in surrounding tissues. This condition is less common with modern dialysis techniques.


The severity of amyloidosis depends on which organs the amyloid deposits affect. Potentially life-threatening situations include kidney failure and congestive heart failure:

Kidney damage. When amyloidosis affects your kidneys, their filtering system is damaged, causing protein to leak from your blood into your urine. When large amounts of protein leave your bloodstream and appear in your urine, the loss of protein, specifically albumin, from your blood permits more fluid to leak out of your capillary blood vessels. This, along with retention of sodium, can cause your feet, ankles and calves to swell (edema). Ultimately, damage to the kidneys’ filtering system inhibits your kidneys’ ability to remove waste products from your body, which may progress to kidney failure.

Heart damage. When amyloidosis affects your heart, a common symptom is shortness of breath, even with slight exertion. You may find it difficult to climb a flight of stairs or walk long distances without stopping to rest. When amyloid protein builds up in your heart, it reduces your heart’s ability to fill with blood in between heartbeats. This means less blood is pumped with each beat. Your heart will have difficulty keeping up with your body’s demand for blood during exertion. And when amyloidosis affects the electrical system of your heart, this may disturb your heart’s rhythm.

Nervous system damage. Another potential complication of amyloidosis is disruption of your nervous system function. This may include carpal tunnel syndrome — characterized by pain, numbness or tingling of the fingers. Disruption of another area of your nervous system might cause numbness or a lack of feeling in your toes or soles of your feet, or a burning sensation in these areas due to nerve infiltration.

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.

Tests and diagnosis

In order to rule out other conditions, your doctor may conduct a physical exam and a variety of tests, including blood tests and urine tests. Though blood or urine tests may detect an abnormal protein — which could indicate amyloidosis — the only definitive test for amyloidosis is a tissue biopsy.

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 liver or kidney, to help diagnose the specific organ affected by amyloidosis. These procedures may require hospitalization.

Treatments and drugs

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:

Medicines. Therapies include melphalan (Alkeran), a chemotherapy agent also used to treat certain types of cancer, and dexamethasone, a corticosteroid used for its anti-inflammatory effects. 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. Anyone undergoing chemotherapy for amyloidosis may experience side effects similar to those of chemotherapy for cancer treatment, such as nausea, vomiting, hair loss and extreme fatigue.

Peripheral blood stem cell transplantation. Peripheral blood stem cell transplantation involves using high-dose chemotherapy and transfusion of previously collected immature blood cells (stem cells) to replace diseased or damaged marrow. These cells may be your own (autologous transplant) or from a donor (allogeneic transplant). Autologous transplant is the preferred approach. Not everyone is a candidate for this aggressive treatment, and it has serious risks, including death. In some research, results from stem cell transplants have been promising, although more recent research suggests that overall survival rates are better for those given chemotherapy compared with stem cell transplantation. Discuss the potential risks and benefits of this treatment with your doctor.

Treating secondary amyloidosis
If you have secondary amyloidosis, the primary goal of therapy is to treat the underlying condition — for example, taking an anti-inflammatory medication for rheumatoid 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.

Groups / Informational Websites:

Amyloidosis Foundation:

Amyloidosis Support Groups:

Mayo Clinic:

Boston University Amyloid Treatment & Research: