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Disease: Amyloidosis Amyloidosis
Category: Immune diseases
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Disease Definition:

Amyloid protein is an abnormal protein produced by cells in the bone marrow that can be deposited in any tissue or organ. When this amyloid protein builds up in the organs, amyloidosis occurs, which is a rare and potentially fatal disease.

The exact cause of amyloidosis is still unknown, and even though it has no cure, there are therapies that help a person manage their symptoms and limit the production of amyloid protein.

There are many types of amyloid, affecting different organs in different people. Amyloidosis frequently affects the heart, liver, kidneys, spleen, nervous system and gastrointestinal tract.

Work Group:

Prepared by: Scientific Section

Symptoms, Causes


The wide range of signs and symptoms of this disease make it difficult to diagnose, because they depend on the organs affected. A person may not experience any signs or symptoms, but when they do occur, some of them may be:


  • Weakness
  • Diarrhea
  • Weight loss
  • Tingling or numbness in the hands or feet
  • Skin changes
  • Severe fatigue
  • Difficulty swallowing
  • Macroglossia, a condition in which the tongue is enlarged
  • Shortness of breath
  • Swelling of the ankles and legs
  • An irregular heartbeat


The cause of primary amyloidosis is yet unknown; however, the thing that is known is that it starts in the bone marrow.

The bone marrow produces red and white blood cells and platelets, as well as antibodies, which are proteins that protect the body against infection and disease. After serving their function, these antibodies are broken down and recycled. But when the bone marrow produces antibodies that can not be broken down, they build up in the bloodstream. Ultimately, they leave the bloodstream and deposit in the tissues as amyloid and interfere with normal function, causing amyloidosis.

Primary amyloidosis usually isn't associated with other diseases, except for multiple myeloma in very rare cases, which is a form of bone marrow cancer.
Primary amyloidosis usually affects the tongue, heart, kidneys, intestines and nerves.

Secondary amyloidosis occurs in association with severe infectious or inflammatory diseases, such as rheumatoid arthritis, osteomyelitis (a bone infection) or tuberculosis. The liver, kidneys, spleen and lymph nodes are usually affected by this disease, but other organs could also be affected. This type of amyloidosis could be stopped by treating the underlying disease.

This disease has yet another type, called hereditary amyloidosis, which is inherited and usually affects the heart, kidneys and nerves.



The severity of this disease depends on which organs are affected. It could lead to potentially life-threatening situations, such as:

Heart damage:
When the electrical system of the heart is affected by this disease, the heart's rhythm may be disturbed. However, when the heart is affected the patient will experience shortness of breath even with the slightest exertion, which is the most common symptom of this disease. When amyloid protein builds up in the heart, it reduces the heart's ability to fill with blood between heartbeats, which means that less blood is pumped with each beat and the heart will have difficulty keeping up with the body's demand for blood during exertion, that's why climbing a flight of stairs or walking long distances without stopping to rest will be difficult.

Kidney damage:
Damage to the kidneys' filtering system hinders their ability to remove waste products from the body, which may progress to kidney failure. When the kidneys are affected by amyloidosis, their filtering system will be damaged, causing protein to leak from the blood into the urine. The loss of protein from the blood permits more fluid to leak out of the capillary blood vessels, which along with retention of sodium, can cause the patient’s feet, ankles and calves to swell, a condition called edema.

Nervous system damage:
Amyloidosis could also disrupt the function of the nervous system, which happens in about 25% of the cases, and it may include carpal tunnel syndrome that is characterized by pain and tingling or numbness of the fingers. When another area of the nervous system is disrupted, the patient might experience numbness or a lack of feeling in their toes or soles of their feet, or a burning sensation in these areas because of nerve infiltration.

Someone with amyloidosis may also experience periods of alternating constipation and diarrhea in case amyloid deposits affect the nerves that control the bowel function.
Sometimes, the nerves that control blood pressure are affected, which may result in a feeling of dizziness or near fainting when standing too quickly because of a drop in the blood pressure.


Treatment may help limit the production of amyloid protein and manage the symptoms, but there's no cure for amyloidosis.

Several therapies are being researched to determine their place in the treatment of primary systemic amyloidosis. Some of the available options are:

Peripheral blood stem cell transplantation:
This form of therapy involves using high-dose chemotherapy and transfusion of previously collected stem cells (immature blood cells) to replace diseased or damaged marrow. These immature cells could be the patient’s own (autologous transplant), which is the preferred approach, or it could be from a donor (allogeneic transplant).

Therapies include a chemotherapy agent, which is also used to treat certain types of cancer, such as melphalan  and dexamenthasone, which is a corticosteroid used for its anti-inflammatory effects. Other types of chemotherapy regimens are being investigated for treating amyloidosis. There are also several medications used for treating multiple myeloma, which are being tested for their ability to inhibit amyloidosis, such as thalidomide , bortezomib  and a thalidomide derivative called lenalidomide . To provide the body with an adequate energy supply, a well-balanced nutrition is important.

In secondary amyloidosis treatment, the main goal is treating the underlying condition, such as taking an anti-inflammatory medication for rheumatoid arthritis.

One of the options available in treating hereditary amyloidosis is liver transplant because the protein that causes this form of amyloidosis is made in the liver.

Based on the signs and symptoms as well as the affected organs, a person with amyloidosis may need treatment for complications.
If the heart or kidneys are affected by amyloidosis, the patient may have to follow a low-salt diet to control fluid retention, or they may be prescribed diuretics and other medications and in some other cases they could be prescribed pain killers.


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