A blood sample with the definition of amyloidosis
Amyloidosis is a rare disease caused by the formation of abnormal proteins, called amyloids, that builds up around your tissues and organs.

What Is Amyloidosis?

Amyloidosis is a rare, incurable disease caused by the formation of abnormal proteins that affects about 200,000 Americans each year according to Mayo Clinic. While it can affect people of any age, it tends to occur in people over the age of 40 mainly.

According to Mayo Clinic, amyloidosis is “a rare disease that occurs when a substance called amyloid builds up in your organs.” Amyloid is produced within the bone marrow, however, it isn’t a normal protein.

These proteins can be deposited in different tissues and organs throughout the body depending on the person, and the type of amyloid. In extreme instances, the disease can be life-threatening and can cause organ failure.

What are Some of the Symptoms?

Unfortunately, it can go undiagnosed for some time. The type of symptoms one has depends on which organs are affected. Symptoms of amyloidosis may include:

  • Swelling of your ankles and legs.
  • Severe fatigue and weakness.
  • Shortness of breath.
  • Numbness, tingling or pain in your hands or feet, especially pain in your wrist (carpal tunnel syndrome).
  • Diarrhea, possibly with blood, or constipation.
  • Unintentional, significant weight loss.
  • An enlarged tongue.
  • Skin changes, such as thickening or easy bruising, and purplish patches around the eyes.
  • An irregular heartbeat.
  • Difficulty swallowing.

What Causes Amyloidosis?

As we stated earlier, this condition is caused by the development of a large amount of amyloid proteins which can make their way to vital organs, and other tissues. The type of amyloid determines what areas of the body are likely to be affected. This means that the cause of your amyloidosis depends on what type of amyloidosis you have.

This condition can occur in anyone, however, some factors increase your risk of developing it. For example, men are at a significantly higher risk of developing this disease than women with nearly 70 percent of people with AL amyloidosis occurring in men. Also, age is a significant factor too with most people being diagnosed with AL amyloidosis between the ages of 60-70.

Race, family history, kidney dialysis, and other illnesses can also increase the risk of developing this condition.

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Different Types of Amyloidosis

Some of the common types of amyloidosis include AL amyloidosis (immunoglobulin light chain amyloidosis), AA amyloidosis, hereditary amyloidosis (familial amyloidosis), and dialysis-related amyloidosis.

  • AL amyloidosis is by far the most common type of amyloidosis. This can affect the heart liver, skin, and nerves. Also known as primary amyloidosis, this type occurs when there are too many abnormal antibodies in your bone marrow that your body is unable to break down.
  • AA amyloidosis affects the kidneys, but it can also affect the liver, heart, and/or the digestive tract. This is also known as secondary amyloidosis. It is usually accompanied with chronic inflammatory or infectious diseases.
  • Hereditary amyloidosis is inherited. It can affect the nerves, liver, heart, and/or kidneys. Various gene abnormalities can increase the risk of developing this type.
  • Dialysis-related amyloidosis occurs when proteins normally found in the blood get deposited in places they’re not supposed to be, like tendons or joints. This can cause a variety of painful conditions.

What Treatment Options are Available for Amyloidosis?

Unfortunately, no cure exists for this disease. However, treatment can prevent the illness from progressing and can help manage some of the symptoms you’re experiencing. The treatment you receive is usually determined by the type you have.

For AL amyloidosis, chemotherapy medications are often used to prevent the further growth of abnormal amyloids. Autologous blood stem cell transplants (ASCT) are also offered in some cases, however only to people whose heart isn’t significantly affected, and whose illness isn’t advanced. During this procedure stem cells from your blood are collected and safely stored. Then you receive a high-dose of chemotherapy before the stem cells are deposited back in your body through a vein.

With AA amyloidosis, treatment options are usually focused on addressing the underlying secondary condition. Since hereditary amyloidosis uses the liver to create amyloid proteins, liver transplants may be considered.

Lastly, with Dialysis-related amyloidosis kidney transplants or changing the mode of dialysis may be considered as treatment options.

To address some symptoms, doctors may prescribe pain medications, blood-thinning medications, fluid retention medications, and medications that control your heart rate. Sometimes doctors may also recommend low sodium diets to help with the treatment. Eating a balanced diet, and pacing yourself during strenuous activities may help manage your symptoms.

Living With Amyloidosis

Living with amyloidosis can be difficult. The symptoms can range from irritating to painful.

However, with support from family and medical professionals, the symptoms can be managed, and the progression of the disease can be halted. If you feel that you’re starting to show symptoms of amyloidosis, it’s highly encouraged that you re