Amyloidosis 101: Symptoms, Types and Treatments

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Amyloidosis is a rare disease that affects less than 200,000 people in the United States. It happens when an abnormal protein called amyloid builds up in your body. These amyloid proteins clump together in your organs or tissues and interfere with how they work. Symptoms depend on where the amyloid builds up. 

Amyloidosis can lead to life-threatening complications, including abnormal heart rhythms and kidney failure. So if you notice symptoms, it’s important to talk with your doctor right away. Fortunately, there are many treatment options available to ease symptoms and prevent complications. Learn more about amyloidosis symptoms, causes and treatments.

Signs and Symptoms of Amyloidosis

During the early stages of amyloidosis, you may not have any symptoms at all. As amyloid levels increase, they can damage various organs or body systems, including the heart, kidneys, liver and nervous system. Since amyloidosis can affect so many different parts of your body, it can also cause a very wide range of symptoms. 

Symptoms may include:

  • Fatigue (feeling very tired)
  • Shortness of breath
  • Unexplained weight loss
  • Numbness or pain in your hands or feet
  • Constipation or diarrhea
  • Swelling of the ankles or feet
  • Decreased urine output (peeing less) or foamy urine
  • Enlargement of the tongue or trouble swallowing
  • Thickened skin or easy bruising on your face or chest
  • Dizziness or irregular heartbeat

If you notice these symptoms, talk with your doctor to find out what’s causing them. It’s important to treat amyloidosis early to prevent more damage to your body.

Types and Causes of Amyloidosis

There are many different types of amyloidosis with different underlying causes. The four most common types of amyloidosis are:

  • AL amyloidosis (also called “primary amyloidosis” or “light chain amyloidosis”) is the most common type of amyloidosis in the United States. Experts aren’t sure what causes this type. When you have AL amyloidosis, your bone marrow produces abnormal amyloid proteins. It usually affects the heart, kidneys, liver and nerves.
  • AA amyloidosis (also called “secondary amyloidosis”) is most often triggered by another condition that causes inflammation, like rheumatoid arthritis or inflammatory bowel disease. It usually affects the digestive tract, heart or liver.
  • Hereditary amyloidosis (also called “familial amyloidosis”) is inherited  — meaning it’s passed down in families through genes. It involves abnormal production of the protein transthyretin (TTR) by the liver. It usually involves the nervous system, heart or kidneys.
  • Localized amyloidosis affects only one organ, rather than multiple body systems. Usually this type of amyloidosis affects the skin, throat, lungs or bladder.

Am I at Risk?

Anyone can get amyloidosis, but it’s most common in older adults between ages 60 and 70. It’s also more common in men. You may also be at higher risk for amyloidosis if you have:

  • A family history of amyloidosis
  • Another chronic infectious or inflammatory condition
  • You’re currently on dialysis treatment for kidney disease, or you were in the past

Diagnosing Amyloidosis

If you notice symptoms of amyloidosis, it’s important to see your doctor right away. Amyloidosis symptoms often mimic symptoms of other common health conditions, so it can be difficult to diagnose. 

Your doctor will ask questions about your medical and family history. Then they may do some tests to find out if amyloidosis is causing your symptoms. Tests to check for amyloidosis may include: 

  • Blood tests
  • Urine tests
  • Tissue biopsy (taking a small piece of tissue to look at under a microscope)
  • Imaging tests like an echocardiogram, MRI or nuclear imaging

What Are the Treatments for Amyloidosis?

Though there’s currently no cure for amyloidosis, there are several effective treatment options to manage your symptoms. If another health condition is causing your amyloidosis, treating that underlying condition can help with amyloidosis symptoms. Treatments for amyloidosis include:

  • Chemotherapy to minimize growth of cells that lead to abnormal protein production
  • Targeted medication therapy to prevent buildup of amyloid deposits
  • Heart medicines like blood thinners and diuretics to manage heart symptoms and prevent complications
  • Dialysis for people with significant kidney damage, to remove waste from the body
  • Organ transplant when amyloid deposits have caused damage to a particular organ

Next Steps

If you notice symptoms of amyloidosis, tell your doctor right away.

Like many health conditions, treatments for amyloidosis work best when you get a diagnosis and start treatment early. You and your doctor can work together to discuss treatment options and find a treatment plan that works for you.