Amyloidosis

What is Amyloidosis?

Amyloidosis occurs when amyloid, which is an abnormal protein usually made in the bone marrow and deposited into any organ or tissue, accumulates in the organs after becoming insoluble.

This is a rare disease that could affect different organs in different patients. There are also different versions of amyloid. However, amyloidosis most frequently will affect the spleen, liver, kidneys, digestive tract, nervous system, and heart. Also, severe cases could result in organ failure that is life-threatening.

This process occurs due to gene mutations and having cases of amyloidosis in your family, increases the chances of suffering from the hereditary form of amyloidosis. Other risk factors are chronic inflammatory processes and age (most of the people who develop amyloidosis are over 60).

What are the Symptoms of Amyloidosis?

Some patients do not experience symptoms until amyloidosis is already advanced. However, when the symptoms are apparent, they will depend upon the organs that are affected.

Symptoms include

  • Severe weakness and fatigue
  • Numbness, pain, or tingling in the feet or hands, particularly in the wrist
  • Diarrhea or constipation
  • Swelling of the legs and ankles
  • Shortness of breath
  • Enlarged tongue
  • Quickly feeling full whenever you eat
  • Significant weight loss
  • Irregular heartbeat
  • Difficulty swallowing
  • Skin changes that might include bruising easily or thickening skin, as well as purple patches surrounding the eyes

Amyloidosis Causes

In essence, amyloidosis occurs because of the buildup of an abnormal protein known as amyloid. It’s usually produced in the bone marrow and can be found in any organ or tissue. The specific cause of a patient’s condition depends on the type of amyloidosis a patient has. For example, AL amyloidosis (immunoglobulin light chain amyloidosis) which usually affects the skin, heart, kidneys, liver and nerves, occurs when the bone marrow creates abnormal antibodies that the body can’t break down. Consequently, the antibodies are stashed in the body tissues as amyloid, which interferes with normal body function.

AA amyloidosis is another type of amyloidosis that mostly affects the kidneys but rarely the liver, heart, or digestive tract. It occurs along with highly infectious or inflammatory diseases, like inflammatory bowel disease or rheumatoid arthritis. Also, hereditary amyloidosis (familial amyloidosis) is another inherited disorder that mostly affects the nerves, kidneys, heart, and liver. It occurs in patients due to the many different kinds of gene abnormalities found at birth, which make them highly vulnerable to amyloid disease.

Hereditary amyloidosis in most patients occurs depending on the age at which symptoms first appear, and the rate in which the disease escalates over time. The final form of amyloidosis worth mentioning in this section is dialysis-related amyloidosis, which occurs when proteins in blood are lodged in tendons and joints. This causes a lot of pain, fluid formation in the joints, stiffness, and carpal tunnel syndrome. Amyloidosis of this kind mostly affects patients placed on long-term dialysis.

How is Amyloidosis Treated?

There is not yet a cure for amyloidosis. However, treatments that are available can help with managing symptoms and limiting the body’s production of amyloid protein.

There are different types so the type that a patient has will dictate treatment. Chemotherapy and peripheral blood stem cell transplant can be used to treat AL. For AA amyloidosis, medication, such as anti-inflammatory drugs, can be used, while hereditary amyloidosis can be treated with a liver transplant. Amyloidosis that is dialysis related may require changing the mode of dialysis or undergoing a kidney transplant.

Medications might include pain medicine, diuretics, blood thinning medicine, and medicine to control the heart rate.

Amyloidosis Prevention

Amyloidosis means of prevention can be categorized in two ways”‚ÄĚprimary amyloidosis and secondary amyloidosis. In primary amyloidosis, the disorder is very changeable which makes it impossible to provide any preventive interventions. In secondary amyloidosis, various methods of precautionary measures against amyloidosis disease are undertaken. Thus, it’s important for patients suffering from monoclonal gammopathy and multiple myeloma to undergo regular clinical check-ups. Repeat serum protein electrophoresis testing is provided each year. Nevertheless, routine screening for amyloidosis isn’t indicated unless the patient suffers from acute edema or fatigue, or if their urinalysis reveals signs of proteinuria.

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Last Reviewed:
September 12, 2016
Last Updated:
June 10, 2018