Amyloidosis Definition, Reason, Symptom, Treatment, Prevention

Amyloidosis Definition, Reason, Symptom, Treatment, Prevention

Amyloidosis Definition

Amyloidosis is a rare disease that can occur when there is a buildup of a substance called amyloid in the body’s organs. Amyloid is an abnormal protein produced by the bone marrow and can be deposited in certain tissues or organs.


Amyloidosis can affect different organs and is different for each individual, and there are several types of amyloid. Amyloidosis often affects the heart, kidneys, liver, spleen, nervous system, and digestive tract. Severe amyloidosis can lead to life-threatening organ failure.

Amyloidosis Reason

In general, amyloidosis is caused by the buildup of an abnormal protein called amyloid. Amyloid produced by the bone marrow can be stored in certain tissues or organs. The specific cause of the condition experienced by individuals with amyloidosis depends on the type experienced.

There are several types of amyloidosis, namely:

  • AL amyloidosis is the most common type and can involve the heart, kidneys, skin, nerves, and liver. This condition was previously known as primary amyloidosis, which occurs when the bone marrow produces abnormal and irreversible antibodies.

These antibodies are then stored in the tissue as amyloid, which can affect the normal function of the tissue.

  • AA amyloidosis is the type that most commonly affects the kidneys, but can sometimes involve the gastrointestinal tract, liver, or heart. This condition was previously known as secondary amyloidosis and occurs in conjunction with certain chronic inflammatory or infectious diseases – such as rheumatoid arthritis or inflammatory bowel disease.
  • Familial amyloidosis is an inherited condition that often affects the liver, nerves, heart, and kidneys. Many types of gene abnormalities found at birth can be associated with an increased risk of developing the amyloid disease.

The type and location of the amyloid gene abnormality can affect the risk of certain complications, the age at first signs and symptoms, and the progression of the disease over time.

  • Dialysis-related amyloidosis occurs when protein from the blood is deposited in the joints and tendons, which can cause pain, stiffness, and fluid buildup in the joints. This condition often occurs in people on long-term dialysis.

Amyloidosis Symptoms

A person with amyloidosis may not show signs or symptoms of the condition until it has reached an advanced stage. When signs and symptoms begin to appear, it is influenced by the organs involved.

Some of the signs and symptoms of amyloidosis can include:

  • Swelling of the ankles and legs
  • Excessive weakness and fatigue
  • Hard to breathe
  • Numbness, tingling, or pain in the hands or feet, especially in the wrists
  • Diarrhea, which may be accompanied by blood, or constipation
  • Unintentional excess weight loss
  • Enlargement of the tongue
  • Changes in the skin, such as thickening or easy bruising, and the presence of a purplish color around the eyes
  • Irregular heartbeat
  • Difficulty swallowing

Amyloidosis Diagnosis

The diagnosis of amyloidosis can be made based on a detailed medical interview, direct physical examination, and certain investigations. This condition is sometimes overlooked due to signs and symptoms that resemble many other, more common illnesses.

Early diagnosis of amyloidosis can help prevent further organ damage. A specific diagnosis is also very important because treatment for this condition can vary, depending on the specific condition experienced by the individual.

Some of the types of investigations that can be carried out are:

  • Laboratory examination. Blood or urine tests may be performed to analyze the presence of an abnormal protein that may indicate amyloidosis. Depending on the signs and symptoms experienced, thyroid and liver function tests may also be performed.
  • Tissue samples may be taken and further examined to evaluate the presence of signs and symptoms of amyloidosis.

A biopsy can be done of abdominal fat, bone marrow, or organs such as the liver or kidneys. Tissue analysis of the sample can help determine the type of amyloid deposit.

  • Imaging examination. Imaging of the organs involved in amyloidosis can help determine the degree of the condition.

An echocardiogram can be used to assess the size and function of the heart. Other imaging studies can help determine the degree of amyloidosis of the liver and spleen.

Amyloidosis Handling

Treatment of amyloidosis is aimed at controlling signs and symptoms and limiting the continuity of amyloid protein production. Specific treatment depends on the type of amyloidosis and targets the source of amyloid production.

Treatment options that can be performed on individuals with amyloidosis according to their type are:

  • In AL amyloidosis, chemotherapy treatment similar to that used in multiple myeloma may be recommended. The goal is to stop the growth of abnormal cells that produce amyloid.

In addition, autologous blood stem cell transplant (ASCT) can also be an additional treatment in some cases. This procedure involves collecting stem cells from the patient’s blood and storing them for a short duration while the patient is receiving high-dose chemotherapy. The stem cells are then returned to the body through the veins.

  • In AA amyloidosis, treatment is targeted at the underlying condition, such as the use of anti-inflammatory drugs to treat rheumatoid arthritis.
  • In hereditary amyloidosis, liver transplantation may be an option because the protein that causes this type of amyloidosis is produced in the liver.
  • In dialysis-associated amyloidosis, treatment may involve changing dialysis methods or undergoing a kidney transplant.

Amyloidosis Prevention

There is no proven method of prevention that is fully effective in avoiding the occurrence of amyloidosis. What is Amyloidosis Know more with UofUHealth

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