Amyloidosis – Causes, Types, Symptoms, and Treatment

Amyloidosis is a condition in which a protein called amyloid builds up in the tissues and organs of the body. When that happens, amyloid substances can affect the body’s performance. The worst effects, amyloidosis can cause failure of the heart, spleen, liver, digestive tract, kidney, and nervous system.

Causes of Amyloidosis

Many proteins in the body can cause amyloid deposits to form, but only a few are associated with significant health problems. The type of protein and where it is collected will determine the type of amyloidosis in a person. Amyloid storage can accumulate throughout the body or only in one area.

The following are various types of amyloidosis:

  • Primary amyloidosis (systemic AL). This happens without a known cause, but has been seen in people with blood cancer called multiple myeloma. This is the most common type of amyloidosis. The body parts most commonly affected are the kidneys, heart, liver, intestines, and certain nerves. AL stands for ‘light chain amyloid’, which is a type of protein responsible for amyloidosis.
  • Secondary amyloidosis (systemic AA). This is the result of other chronic inflammatory diseases, such as lupus, rheumatoid arthritis, tuberculosis, inflammatory bowel disease and cancer. Most along affecting the spleen, kidneys, liver, adrenal glands, and lymph nodes. AA means the type of amyloid A protein causes amyloidosis.
  • Dialysis-related amyloidosis (DRA). This is more common in adults and people who have been dialyzed for more than 5 years. This form of amyloidosis is caused by deposits of beta-2 microglobulin found in the blood. Its storage can occur in many different tissues, but it most often affects the bones, joints, and tendons.
  • Hereditary/family amyloidosis (AF). This is a rare form passed down through families. This is caused by the amyloid transthyretin (TTR) protein that is not normal, which is made in the liver. This protein is responsible for the most common form of hereditary amyloidosis.
  • Senile systemic amyloidosis (SSA). This is due to deposits from normal TTR in the heart and other tissues. This is most common in older men.
  • Organ specific amyloidosis. This causes deposits of amyloid protein in a single organ, including the skin (skin amyloidosis).

Some factors that can increase a person’s risk of suffering from amyloidosis are:

  • When undergoing dialysis, abnormal proteins can accumulate in the blood, then accumulate in body tissues
  • Amyloidosis can also be caused by hereditary factors
  • The majority of people with amyloidosis are men
  • Primary amyloidosis sufferers are generally those who are elderly
  • Suffer from other diseases, which cause chronic infection or inflammation
  • Someone who has multiple myeloma cancer
  • End-stage kidney disease that has been undergoing dialysis for a long time

Symptoms of Amyloidosis

The symptoms of amyloidosis are often very mild and even invisible. Symptoms can also vary greatly depending on where amyloid protein is collected in the body. It is important to note that the symptoms described below may be due to a variety of different health problems. Only doctors can make a diagnosis of amyloidosis correctly.

The following are common symptoms of amyloidosis, such as:

  • Skin discoloration
  • Always feeling full
  • Joint pain
  • Low red blood cell count (anemia)
  • Swelling of the tongue
  • Tingling and numbness in the legs and feet
  • Weak hand grip

Amyloid buildup in the heart can make the heart muscle walls stiff. Amyloid can also make the heart muscle weak and affect the heart’s electrical rhythm. This condition can cause a lack of blood flowing to your heart. Eventually, the heart will no longer be able to pump. If amyloidosis affects the heart, the following effects will be seen:

  • Shortness of breath despite mild activity
  • Irregular heartbeat
  • Signs of heart failure, including swelling in the legs accompanied by nausea

Meanwhile, amyloid buildup in the gastrointestinal (GI) tract can slow the contraction of the intestinal muscles (peristalsis) to encourage food in the intestine. If amyloidosis affects the digestive tract, a person will feel:

  • Decreased appetite
  • Diarrhea
  • Nausea
  • Stomach ache
  • Weight loss for no apparent reason

Meanwhile, amyloid can also be buried in peripheral nerves/peripheral nerves (nerves outside the brain and spinal cord). The peripheral nerve is responsible for carrying information from the spine to the central nervous system. If amyloid affects the nerves, then someone will experience:

  • Balance problem
  • Inability to control bowel movements and urination
  • Always sweating
  • Tingling and weakness
  • The body’s inability to control blood pressure

Amyloidosis diagnosis

A thorough, detailed and accurate physical examination of a person’s medical history is very important in helping doctors diagnose amyloidosis. An advanced laboratory technique called electrophoresis or free light chain testing can reveal preliminary evidence of some amyloid protein.

Meanwhile, a biopsy procedure is needed to confirm the diagnosis of amyloidosis and help determine specifically the proteins involved in this disease. Tissue samples for biopsy can be taken from abdominal fat, mouth, rectum, or other organs. However, biopsy is an action that is not always needed.

Amyloidosis Treatment

There is no cure for amyloidosis. Usually the doctor will prescribe medication to suppress the formation of amyloid protein and manage the symptoms that arise. If amyloidosis is caused by another condition, then treatment will be done by treating the underlying cause first.

Basically, the treatment for amyloidosis depends on the type you are suffering from and how many organs are affected. The following are some of the steps commonly taken to treat amyloidosis.

  • Cell transplantation with high doses of chemotherapy and stem cells can help eliminate substances that cause amyloid formation in patients with primary amyloidosis AL who do not have more than two main organs damaged. Chemotherapy drugs alone can be used to treat other patients with primary amyloidosis AL
  • Secondary amyloidosis (AA) is treated by controlling the underlying disorder and with strong anti-inflammatory drugs called steroids, which fight inflammation
  • Liver transplantation may stop the disease in those with hereditary amyloidosis
  • A heart or kidney transplant may also be recommended
  • Diuretic medicine to remove excess water from the body
  • Fluid enhancer to prevent choking on those who have tongue swelling
  • Compression stockings to reduce swelling in the legs or legs
  • Diet modification, especially for patients with gastrointestinal amyloidosis

To note, amyloidosis can be life threatening if it affects the heart or kidney organs. Early diagnosis and treatment is very important to be able to help improve one’s survival. Without treatment, many patients die within two years of diagnosis.

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