Amyloidosis

Medically Reviewed by Shruthi N, MD on August 13, 2024
Written by Kelli Miller, Sarah Amandolare
8 min read

Amyloidosis is a skin condition that occurs when an abnormal protein called amyloid collects in your tissues and organs. When it does, it affects their shape and how they work. Amyloidosis is a rare, serious health problem that can lead to life-threatening organ failure.

Amyloidosis can happen without any known cause, or it can be caused by another disease, such as cancer. Amyloidosis can also be inherited genetically.

Many different proteins can lead to amyloid deposits, but only a few have been linked to major health problems.

 

The type of protein and where it collects tells the type of amyloidosis you have. Amyloid deposits may collect throughout your body or in just one area.

The different types of amyloidosis include:

AL amyloidosis (immunoglobulin light chain amyloidosis). This is the most common type and used to be called primary amyloidosis. AL stands for "amyloid light chains," which is the type of protein responsible for the condition. There’s no known cause, but it happens when your bone marrow makes abnormal antibodies that can’t be broken down. It’s linked to a blood cancer called multiple myeloma. It can affect your kidneys, heart, liver, intestines, and nerves.

AA amyloidosis. Previously known as secondary amyloidosis, this condition is the result of another chronic infectious or inflammatory disease such as rheumatoid arthritis, Crohn’s disease, or ulcerative colitis. It mostly affects your kidneys, spleen, and liver, but it can also affect your digestive tract, liver, and heart. AA means the amyloid type A protein causes this type.

Dialysis-related amyloidosis (DRA) . This is more common in older adults and people who have been on dialysis for more than 5 years. This form of amyloidosis is caused by beta-2 microglobulin deposits that build up in the blood. Deposits can build up in many different tissues, but they most commonly affect bones, joints, and tendons.

Familial (or hereditary) amyloidosis. This is a rare form passed down through families. It often affects the liver, nerves, heart, and kidneys. Many genetic defects are linked to a higher chance of amyloid disease. For example, an abnormal protein such as transthyretin (TTR) is usually the cause.

Wild-type amyloidosis (formerly senile systemic amyloidosis). This is caused by deposits of normal TTR in the heart and other tissues. It happens most commonly in older men.

Organ-specific amyloidosis. This causes deposits of amyloid protein in single organs, including the skin (cutaneous amyloidosis), lungs, throat, or bladder.

Though some types of amyloid deposits have been linked to Alzheimer's disease, the brain is rarely affected by amyloidosis that happens throughout your body.

Amyloidosis is more common in men than in women. Your risk for amyloidosis goes up as you grow older, and most people are diagnosed between the ages of 60 and 70. Your risk increases if you have a long-term infectious or inflammatory disease. Amyloidosis affects 10%-15% of patients with a form of cancer called multiple myeloma.

Amyloidosis may also happen in people with end-stage kidney disease who have been on dialysis for a long time (see "dialysis-related amyloidosis" above), but this is becoming less common as procedures become more modern.

People of African descent may have a higher risk of carrying a genetic mutation linked to a type of amyloidosis that affects the heart and often causes carpal tunnel syndrome.

Symptoms of amyloidosis are often subtle. They can also vary greatly depending on where the amyloid protein is collecting in the body. It is important to note that the symptoms described below may be due to a variety of health problems. Only your doctor can make a diagnosis of amyloidosis.

General symptoms of amyloidosis may include:

  • Changes in skin, such as bruising easily, thickening, and changes in color
  • Severe fatigue
  • Feeling of fullness
  • Joint pain
  • Low red blood cell count (anemia)
  • Shortness of breath
  • Swelling of the tongue
  • Tingling and numbness in legs and feet
  • Weak hand grip
  • Severe weakness
  • Sudden weight loss
  • Swollen ankles and legs
  • Constipation or diarrhea

Amyloidosis rash

The buildup of abnormal proteins in the skin can cause changes in how it looks and feels in different areas of your body. You might have bruising around your eyes or one of the following types of rashes:

  • Lichen amyloidosis usually appears on the shins and causes very itchy patches that are thick, scaly, and reddish brown.
  • Macular amyloidosis patches often appear on the upper back. Patches are mildly itchy, flat, dark brown, and sometimes look wavy.
  • Nodular amyloidosis often appears on the face, limbs, torso, or genitals. It features firm pink, red, or brown raised bumps that don't usually cause itching.

A complete physical exam and a detailed account of your medical history are crucial in helping your doctor diagnose amyloidosis. An amyloidosis test can involve different procedures, depending on your symptoms. 

Blood and urine tests can spot abnormal proteins. Depending on your symptoms, your doctor may also check your thyroid and kidney

Your doctor may do a biopsy to confirm a diagnosis of amyloidosis and know the specific type of protein you have. The tissue sample for the biopsy may be taken from your belly fat (the abdominal fat pad), bone marrow, or sometimes your mouth, rectum, or other organs. It's not always necessary to biopsy the part of the body damaged by the amyloid deposits.

Imaging tests can also help. They show the amount of damage to organs such as your heart, liver, or spleen Such tests can include magnetic resonance imaging (MRI), nuclear imaging, or an echocardiogram.

Your doctor will do a genetic test if they think you have a type that is passed down through families. Treatment for hereditary amyloidosis differs from that for other types of the disease.

Once you’re diagnosed, your doctor might check your heart with an echocardiogram or your liver and spleen with imaging tests.

There is no cure for amyloidosis. Your doctor will prescribe treatments to slow the development of the amyloid protein and manage your symptoms. If amyloidosis is related to another condition, then treatment will include targeting that underlying condition.

Specific treatment depends on what type of amyloidosis you have and how many organs are affected.

  • High-dose chemotherapy with stem cell transplant can help remove the substance that leads to amyloid formation in some people with primary AL amyloidosis. Chemotherapy medicines alone may be used to treat other patients with primary AL amyloidosis.
  • Secondary (AA) amyloidosis is treated by controlling the underlying disorder and with powerful anti-inflammatory medicines called steroids, which fight inflammation.
  • A liver transplant may treat the disease if you have certain types of hereditary amyloidosis.
  • New therapies can slow the production of the abnormal protein TTR.
  • Your doctor might also recommend a kidney transplant.

Other treatments to help with symptoms include:

  • Diuretic medicine to remove extra water from your body
  • Thickeners to add to fluids to prevent choking if you have trouble swallowing
  • Compression stockings to ease swelling in your legs or feet
  • Changes to what you eat, especially if you have gastrointestinal amyloidosis

Amyloidosis medication

Here are some medications that may help treat or manage symptoms of amyloidosis:

  • Melphalan (Alkeran) is a type of chemotherapy medication for primary amyloidosis.
  • Dexamethasone is a steroid sometimes given in combination with chemotherapy for treating primary amyloidosis. 
  • Patisiran and inotersen are more recent FDA-approved treatments for hereditary amyloidosis.
  • Diflunisal is an oral medication for slowing the progression of hereditary amyloidosis.
  • EGCG (green tea extract) is sometimes used to manage symptoms of wild-type ATTR amyloidosis.

Amyloid deposits in your heart can make the muscular walls of your heart stiff. They can also make your heart muscle weaker and affect the electrical rhythm of the heart, potentially causing serious risks to your health. If amyloidosis affects the heart, you may have:

  • Signs of congestive heart failure, including fatigue, shortness of breath, and swelling in your legs or abdomen
  • An abnormal heart rhythm, which can make you feel lightheaded, dizzy, tired, or short of breath
  • Signs of damage to the valves in your heart, including not being able to exercise, feeling short of breath, lightheaded, or dizzy
  • Carpal tunnel syndrome, which can cause numbness or tingling in the hands or feet
  • Easy bruising 
  • A swollen tongue
  • Diarrhea, constipation, or a poor appetite

 

 

Your kidneys filter waste and toxins from your blood. Amyloid deposits in the kidneys make it hard for them to do this job. When your kidneys do not work properly, water and dangerous toxins build up in your body. If amyloidosis affects the kidneys, you may have:

  • Signs of kidney failure, including swelling of the feet and ankles and puffiness around the eyes
  • High levels of protein in your urine
  • High fat and cholesterol levels in your blood

Amyloid deposits along your gastrointestinal (GI) tract slow down the movement of food through your intestines. This interferes with digestion. If amyloidosis affects your GI tract, you may have:

  • Less appetite
  • Diarrhea
  • Nausea
  • Stomach pain
  • Weight loss

If your liver is affected, it can cause liver enlargement and fluid buildup in your body.

Amyloid deposits can damage the nerves outside your brain and spinal cord, called the peripheral nerves. The peripheral nerves carry information from your brain and spinal cord to the rest of your body. For example, they make your brain perceive pain if you burn your hand or stub your toes. If amyloidosis affects your nerves, you may have:

  • Balance problems
  • Problems controlling your bladder and bowel
  • Sweating problems
  • Tingling and weakness
  • Lightheadedness when standing due to a problem with your body's ability to control blood pressure
  • Nausea or vomit

 

 

Amyloidosis can be deadly, especially if it affects your heart or kidneys. Early diagnosis and treatment are important and can help improve survival. 

Researchers continue to question why some types of amyloid make people sick and how the formation of amyloid can be stopped. Studies to find new treatments are ongoing. If you have amyloidosis, consider asking your doctor if there are any clinical trials you can join. You can also search for trials by visiting www.clinicaltrials.gov and typing in the search term "amyloidosis."

How does someone get amyloidosis?

Amyloidosis can happen when proteins in the body change shape and form clumps in your tissues and organs.

What is the average life expectancy for someone with amyloidosis?

Life expectancy with amyloidosis varies. It often depends on the type of amyloidosis someone has, which organs are affected, and how severely their organs are affected. Some people enter remission, no longer showing signs of the disease. More people with AL (primary) amyloidosis are living longer lives, with 1 in 5 patients living for 10 years after diagnosis. Hereditary amyloidosis is generally considered less serious than systemic amyloidosis.

Is amyloidosis a terminal illness?

Amyloidosis can be terminal if it causes organ failure or severely affects your heart.

Which organ is most affected by amyloidosis?

Different organs can be seriously affected by amyloidosis, including the heart and kidneys.

What are the red flags in amyloidosis?

Signs of kidney failure or heart failure can be red flags if you have amyloidosis. You may have high protein levels in your urine, swollen ankles, shortness of breath, or tingling in your hands or feet.

What is the most common precursor to amyloidosis?

Fatigue, shortness of breath, and swelling are the most common precursors to amyloidosis.

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