What Is Amyloidosis and How Is It Treated?

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In its early stages, amyloidosis might not cause symptoms. When it becomes more severe, the symptoms you have will depend on the type of amyloidosis you have and the organ or organs that are affected.

For example, if your heart is affected, you may experience:

• shortness of breath
• fast, slow, or irregular heart rate
• chest pain
• low blood pressure, which could cause lightheadedness

If your kidneys are affected, you may experience swelling in your legs due to fluid buildup (edema) or foamy urine from excess protein.

If your liver is affected, you may experience pain and swelling in the upper part of your abdomen.

If your gastrointestinal tract is affected, you may experience:

• nausea
• diarrhea
• constipation
• appetite loss
• weight loss
• feeling of fullness right after eating

If your nerves are affected, you may experience:

• pain, numbness, and tingling in your hands, feet, and lower legs
• dizziness when standing up
• nausea
• diarrhea
• inability to feel cold or heat

General symptoms that can occur include:

• fatigue
• weakness
• bruising around your eyes or on your skin
• swollen tongue
• joint pain
• carpal tunnel syndrome, or numbness and tingling in your hands and thumb

If you experience any of these symptoms for more than a day or two, see a doctor.

In general, amyloidosis is caused by a buildup of amyloid in your organs. The organs or areas of the body affected depend on the type of amyloidosis that you have.

Some types of amyloidosis are hereditary, while others can be brought on by:

• an individual being on dialysis for a long time
• certain inflammatory diseases

Because each type of amyloidosis may have a slightly different treatment, it’s important to get a proper diagnosis.

According to the Amyloidosis Foundation, a simple way to understand the naming of the different types is that the “A” in most types stands for Amyloid. What follows the “A” is the specific type of amyloid protein involved.

Light chain (AL) amyloidosis

AL amyloidosis, otherwise known as immunoglobulin light chain amyloidosis, is one of the most common types of amyloidosis diagnosed in the United States. It used to be called primary amyloidosis.

AL amyloidosis occurs when abnormal amyloid proteins called light chains build up in organs like your:

• heart
• kidneys
• liver
• skin

Autoimmune (AA) amyloidosis

You can get this type of amyloidosis after a chronic infection like tuberculosis, or a disease that causes inflammation, such as rheumatoid arthritis or inflammatory bowel disease.

About half of people with AA amyloidosis have rheumatoid arthritis. AA amyloidosis mainly affects your kidneys. Sometimes it also can damage your intestines, liver, or heart. This type used to be called secondary amyloidosis.

Beta-2 Microglobulin amyloidosis (Abeta2m)

This type affects people who are on dialysis for a long period of time as a result of kidney problems. The amyloid deposits in the joints and tendons, causing pain and stiffness.

ATTR amyloidosis

This rare type of familial amyloidosis is caused by a mutation in a gene that runs in families. Hereditary amyloidosis can affect the:

• nerves
• heart
• liver
• kidneys

Localized amyloidosis (ALoc)

There are many types of localized amyloidosis. Typically, amyloid deposits in ALoc amyloidosis happen in the trachea or bronchus, eye, or bladder area. But they can also be associated with endocrine proteins or proteins produced in the skin and heart.

Wild-type ATTR

Related to the aging process, wild-type ATTR is mostly found in males over the age of 75. The most common area of the body wild-type ATTR affects is the heart, and one of the first symptoms of this condition can be carpal tunnel syndrome.

Although anyone can get amyloidosis, certain factors can increase your risk.

These include:

• Age. People with AL amyloidosis, the most common type, tend to be diagnosed at age 50 or older.
• Gender. Even though it‘s believed that males and females can be equally affected by this condition, 60% of people referred to amyloid centers are male.
• Race. African Americans are at greater risk of hereditary amyloidosis than other races.
• Family history. Hereditary amyloidosis runs in families.
• Medical history. Having a chronic infection or inflammatory disease can make you more likely to get AA amyloidosis.
• Kidney health. If your kidneys are damaged and you need dialysis, you may be at increased risk. Dialysis may not remove big proteins from your blood as effectively as your own kidneys can.

Your doctor will ask about your symptoms and medical history. It’s important to tell your doctor as much as you can because amyloidosis symptoms can be similar to those of other conditions. Misdiagnosis is common.

Your doctor may use the following tests to help make a diagnosis:

• Blood and urine tests. These tests can be done to assess amyloid protein levels. Blood tests can also check your thyroid and liver function.
• Echocardiogram. This imaging test uses sound waves to create pictures of your heart.
• Biopsy. For this test, a doctor removes a sample of tissue from your liver, nerves, kidneys, heart, abdominal fat, or other organs. Analyzing the piece of tissue can help your doctor figure out what type of amyloid deposit you have.
• Bone marrow aspiration and biopsy. Bone marrow aspiration uses a needle to remove a small amount of fluid from inside your bones. A bone marrow biopsy removes some of the tissue from inside your bone. These tests may be done together or separately. The samples are sent to a lab, where they’re checked for abnormal cells.

If a diagnosis is made, your doctor will figure out which type you have. This can be done with tests like immunochemical staining and protein electrophoresis.

Amyloidosis isn’t curable. Treatment aims to slow amyloid protein production and reduce symptoms.

General treatments

These medications can be used to help control amyloidosis symptoms:

• pain relievers
• drugs to manage diarrhea, nausea, and vomiting
• diuretics to reduce fluid buildup in your body
• blood thinners to prevent blood clots
• medications to control your heart rate

Other treatments are based on the type of amyloidosis you have.

AL amyloidosis

This type is treated with chemotherapy. These drugs are usually used to treat cancer, but in amyloidosis, they destroy the abnormal blood cells that produce amyloid protein.

After you have chemotherapy, you might have a stem cell or bone marrow transplant to replace the damaged bone marrow cells.

Other drugs you might get to treat AL amyloidosis include:

• Proteasome inhibitors. These drugs block substances called proteasomes, which break down proteins.
• Immunomodulators. These medications dampen an overactive immune system response.

AA amyloidosis

This type is treated based on the cause. Bacterial infections are treated with antibiotics. Inflammatory conditions are treated with medications to bring down inflammation.

Beta-2 microglobulin amyloidosis

You can treat this type by changing the type of dialysis you get. Another option is to have a kidney transplant.

ATTR amyloidosis

Because the abnormal protein that causes this type is made in your liver, you may need a liver transplant.

Amyloidosis can potentially damage any organ in which amyloid builds up, which is why a proper diagnosis and treatment are so important. Potential damage can include:

Heart damage. Amyloidosis interrupts your heart’s electrical system and makes it harder for your heart to beat effectively. Amyloid in the heart causes stiffness and weakening of the pumping action of the heart, which leads to shortness of breath and low blood pressure. Eventually, you could develop heart failure.

Kidney damage. Damage to the filters inside your kidneys can make it harder for these bean-shaped organs to remove wastes from your blood. Eventually, your kidneys may become overworked, and you could develop kidney failure.

Nerve damage. When amyloid builds up in nerves and damages them, you might feel sensations like numbness or tingling in your fingers and toes. This condition can also affect other nerves — like the ones that control your bowel function or blood pressure.

Amyloidosis is the name for a variety of conditions caused by a buildup of the amyloid protein. Some of these conditions are hereditary, and some are caused by chronic infection or autoimmune issues.

Amyloidosis isn’t curable, but many types can be managed with treatment.

Talk with your doctor about your treatment options, and work with them if you find that your current treatment plan isn’t doing what it should. They can make adjustments as needed to help reduce your symptoms and improve your quality of life.