Amyloidosis is a rare disease that can cause a wide variety of symptoms. In amyloidosis, plasma cells (a type of white blood cell) produce an abnormal protein called amyloid. Amyloid clumps together, creating amyloid fibrils in any organ or area of the body. Where these fibrils form can affect which symptoms you experience. For example, if amyloid proteins collect in the heart, you will be more likely to have cardiac symptoms.
Different types of amyloidosis lead to unique sets of symptoms.
In AL amyloidosis, also called amyloid light-chain amyloidosis or primary amyloidosis, the amyloid proteins involved are known as light-chain proteins. AL amyloidosis can affect many parts of the body, including the kidneys, heart, skin, digestive system, and nervous system. AL amyloidosis is the most common type of amyloidosis.
AA amyloidosis, also called secondary amyloidosis, typically causes problems with the kidneys. It can also affect the heart, liver, or digestive system. AA amyloidosis is usually caused by an underlying disease, like rheumatoid arthritis or inflammatory bowel disease.
Hereditary amyloidosis leads to problems with the heart, nervous system, or both. Hereditary amyloidosis is caused by genetic mutations, and different gene changes can lead to problems with various parts of the body.
Wild-type ATTR amyloidosis forms when the body makes too much transthyretin (TTR) protein. Wild-type amyloidosis typically leads to problems with the heart and occasionally the nerves.
Dialysis-related amyloidosis usually affects the joints, tendons, and bones. Some people may also experience problems in the digestive system, lungs, or heart.
Read more about types of amyloidosis.
Amyloidosis can affect specific organs or organ systems, each of which can result in individualized symptoms. However, many people with amyloidosis have more general symptoms as well, including:
These symptoms can also be common in many other diseases and health conditions. Having these symptoms does not necessarily mean you have amyloidosis.
People may have amyloidosis symptoms for up to two years before they get a diagnosis. Additionally, some people with amyloidosis don’t experience any major symptoms.
The kidneys are the organs most likely to be affected by amyloidosis. Signs and symptoms of kidney problems may include:
When amyloid proteins collect in the heart, they can stiffen it and make it harder for the heart to pump blood around the body. People with heart-related amyloid symptoms may have:
About 30 percent to 40 percent of people with AL amyloidosis have skin symptoms. However, these symptoms are less common in people with other types of amyloidosis.
Small spots that indicate bleeding under the skin are the most common skin symptoms for people with amyloidosis. There are two types of spots that may occur. Petechiae are small red or purple spots, while ecchymoses are flat, slightly larger, bluish-purple spots. Together, both of these types of spots are called purpura.
Other skin-related symptoms that may develop in people with AL amyloidosis include:
Most types of amyloidosis affect the entire body. However, in some cases, this disease is only found in one specific area. Some types of amyloidosis only affect the skin. There are several skin-specific forms of amyloidosis:
More rarely, amyloidosis can affect the gastrointestinal (GI) tract, also called the digestive system. Studies have found that between 3 percent and 16 percent of people with amyloidosis have GI symptoms. These symptoms may be caused by amyloid proteins within the digestive organs themselves, or by amyloid within the muscles, nerves, or blood vessels that help the GI tract work correctly.
People with amyloidosis may experience esophagus problems. Your esophagus is the tube that leads from your mouth to your stomach. Amyloidosis can cause acid reflux, which causes stomach acid to come back up through your esophagus. This can cause a feeling of pain or burning in the chest. Additionally, people with amyloidosis may have problems with food getting stuck in the esophagus.
Amyloidosis can also cause stomach symptoms. Some of the more common ones are:
Amyloid can build up in the intestines as well. Your small intestine helps break down food and absorb its nutrients, and your large intestine absorbs water and gets rid of leftover waste. Intestinal amyloidosis symptoms can include:
Amyloid protein deposits can build up in the nerves, which are long cells that send messages back and forth between the brain and the rest of the body. In some cases of AL and hereditary amyloidosis, nerve problems are the main symptom. One of the most common issues is peripheral neuropathy, or nerve damage that causes numbness or tingling. Carpal tunnel syndrome, a common form of neuropathy, causes numbness, weakness, tingling, or pain in the arm and hand. Carpal tunnel may be seen in many types of amyloidosis.
Other nervous system symptoms may include:
Amyloidosis may also affect the brain, causing symptoms such as headache, tiredness, dizziness, confusion, memory problems, vision changes, speech problems, or seizures.
For some people, amyloidosis can lead to pain in specific areas or throughout the body. Some common issues include:
When amyloid builds up in a certain location, it can make that area swell or get bigger. For example, some people with amyloidosis have swollen shoulders or an enlarged tongue. Some people also have swollen joints because amyloid deposits collect in the joint lining. This symptom is most common in AL amyloidosis and dialysis-related amyloidosis.
If you have symptoms compatible with amyloidosis, your doctor may want to run tests to get a closer look. Your physician may perform a physical exam and run blood tests or urine tests to look for signs of this disease. If your doctor thinks you may have a hereditary form of amyloidosis, they may ask you about your family history to see whether any other family members have similar symptoms. It may also be necessary to get a biopsy to definitively diagnose amyloidosis.
Read more about how amyloidosis is diagnosed.
Many symptoms of amyloidosis are general and may be associated with a wide range of other health conditions. Some health conditions commonly overlap in people with amyloidosis, so your doctor may first need to determine which condition is causing your symptoms, or whether one condition is worsening the symptoms of another.
Read more about other health conditions related to amyloidosis.
Which amyloidosis symptoms you experience can influence the specific treatments you are offered. Many treatment options are available that can help reduce symptoms and improve your quality of life.
Read more about treatments for amyloidosis.
Amyloidosis Condition Guide