Amyloidosis is a rare disease that can cause a wide range of symptoms. Normally, plasma cells — specialized white blood cells — produce antibodies to fight infections. However, in amyloidosis, these cells produce an abnormal protein called amyloid. This protein clumps together into structures called amyloid fibrils, which then deposit in different organs or tissues. This leads to various types of symptoms.

The specific symptoms you experience will depend on where these fibrils form. For instance, if amyloid builds up in the heart, you might experience heart-related symptoms like shortness of breath or an irregular heartbeat​​.

In this article, we’ll examine the various types of symptoms that may develop in people living with amyloidosis.

Types of Amyloidosis

Different types of amyloidosis can lead to distinct sets of symptoms.

“Systemic amyloidosis” is an umbrella term for types of amyloidosis that affect multiple organs and tissues throughout the body.

In AL amyloidosis, also called “amyloid light-chain amyloidosis” or “primary amyloidosis,” the amyloid proteins involved are called “light-chain proteins” — a type of immune system protein. 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. The “AA” stands for “amyloid A,” a specific protein involved in this condition. AA amyloidosis can also affect the heart, liver, or digestive system. AA amyloidosis is usually triggered by an underlying condition, such as rheumatoid arthritis or inflammatory bowel disease (IBD).

Hereditary amyloidosis often leads to problems with the heart, nervous system, or both. This term usually refers to “hereditary transthyretin amyloidosis (hATTR),” which is caused by genetic mutations in the transthyretin (TTR) gene. Different gene changes can lead to issues in various parts of the body.

Wild-type ATTR amyloidosis occurs when the body makes too much 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.

1. General Symptoms

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:

• Fatigue (extreme tiredness)
• Unexpected weight loss
• Anemia (low numbers of red blood cells)
• Abnormal bleeding
• Muscle weakness
• Bladder incontinence
• Blood in the stool or urine
• Stiff or painful joints
• Hoarseness
• Frequent infections
• Fluid retention
• Skin changes, such as rashes or fragility (easily damaged or torn)

These symptoms can also be common in many other diseases and health conditions. Having these symptoms does not necessarily mean you have amyloidosis.

People with amyloidosis may experience symptoms for two years or more before receiving a diagnosis. Additionally, some people with amyloidosis don’t experience any major symptoms.

2. Kidney Symptoms

The kidneys are the organs most likely to be affected by amyloidosis. Signs and symptoms of renal (problems) may include:

• Proteinuria (too much protein in the urine)
• Bloating in the abdomen
• Edema (swelling in the legs)
• Hypercholesterolemia (high cholesterol levels)

3. Heart Symptoms

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:

• Chest pain
• Arrhythmia (irregular heartbeat)
• Sleeping problems
• Dizziness
• Dyspnea (shortness of breath)

4. Skin Symptoms

About 30 percent to 40 percent of people with AL amyloidosis experience skin symptoms. These symptoms vary depending on where the amyloid is deposited in the body and the extent of tissue damage.

The most common skin symptoms in people with amyloidosis are small spots that indicate bleeding under the skin. These can appear as two types of spots that may occur. Petechiae are small spots that may appear red, purple, or darker than the surrounding skin. Ecchymoses are flat, slightly larger spots that can range from bluish-purple to a deeper brown or black, depending on skin tone. Both types of spots together are known as purpura.

Other skin-related symptoms that may develop in people with AL amyloidosis include:

• Blisters filled with blood
• Areas of skin that are thick, scaly, or itchy
• Hard, brittle nails
• Waxy bumps on the eyelids, neck, or groin
• Alopecia (hair loss)
• Swelling or bruising around the eyes
• Jaundice (yellowing of skin or whites of the eyes)

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, called cutaneous amyloidosis, only affect the skin.

There are several skin-specific forms of amyloidosis:

• Lichen amyloidosis — Causes a very itchy, scaly rash that may appear reddish-brown on lighter skin or darker brown or gray on darker skin, typically on the feet, legs, and arms
• Macular amyloidosis — Leads to itchy, flat spots that may appear brown or gray on lighter skin, and darker brown, gray, or black on darker skin, usually on the upper back and chest
• Nodular amyloidosis — Results in firm spots on the trunk, arms, legs, face, or genitals that may be pink, brown, red, or darker than the surrounding skin
• Amyloidosis cutis dyschromia — Leads to patches of skin that are lighter or darker than the surrounding area

5. Gastrointestinal Symptoms

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 experience GI symptoms. These symptoms may result from amyloid proteins within the digestive organs themselves or in the muscles, nerves, or blood vessels that help the GI tract work properly.

Following are specific types of GI-related symptoms.

Mouth Symptoms

The mouth can be affected by amyloidosis. Some people with this condition develop a large, hard tongue that is covered with spots or blisters (macroglossia). This may lead to:

• Pain in the tongue
• Problems chewing
• Difficulty swallowing

Esophagus Symptoms

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.

Stomach Symptoms

Amyloidosis can also cause stomach symptoms. Some of the more common ones are:

• Nausea
• Vomiting
• Belly pain
• Abdominal swelling or bloating
• Feeling full after not eating very much
• Loss of appetite

Intestinal Symptoms

Amyloid can build up in the intestines, affecting both the small and large intestines. The small intestine helps digest food and absorb nutrients, while the large intestine absorbs water and eliminates waste.

Symptoms of intestinal amyloidosis may include:

• Difficulty digesting food
• Excessive gas
• Diarrhea
• Constipation
• Bulky, greasy stools
• Bowel incontinence (leakage of stool or loss of bowel control)
• Rectal bleeding or blood in the stool

6. Neurological Symptoms

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, neurological (nerve) problems are the main symptom.

One of the most common issues is peripheral neuropathy (damage to nerves outside the brain and spinal cord) that causes numbness or tingling, usually in the arms, hands, legs, and feet. Carpal tunnel syndrome, a common form of neuropathy, causes numbness, weakness, tingling, or pain in the arm and hand. Carpal tunnel syndrome can occur in many types of amyloidosis.

Other nervous system symptoms may include:

• Decreased sweating
• Postural hypotension (a drop in blood pressure upon standing, leading to dizziness)
• Fainting
• Loss of taste
• Erectile dysfunction
• Insensitivity to pain, cold, or heat

Amyloidosis may also affect the brain, causing symptoms such as:

• Headache
• Tiredness
• Dizziness
• Confusion
• Memory problems
• Vision changes
• Speech problems
• Seizures

7. Pain

Amyloidosis can cause pain in various parts of the body. This pain can result from amyloid deposits in organs, nerves, or tissues, leading to inflammation, nerve damage, or pressure on surrounding structures, like muscles, bones, and organs.

Common areas affected include:

• Abdomen
• Chest
• Hands
• Head
• Joints
• Lower back
• Legs (particularly the back of the leg)
• Shoulders
• Tongue

8. Swelling

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.

Getting Help for Symptoms of Amyloidosis

If you have symptoms that may be related to amyloidosis, your doctor may want to run tests to get a closer look. These can include a physical exam, blood tests, and urine tests to check for signs of the 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. To definitively diagnose amyloidosis, a biopsy may be necessary. This involves removing a small sample of tissue or bone marrow for examination under a microscope.

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 underlying disease 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.

Find Your Team

MyAmyloidosisTeam is the social media network for people with amyloidosis and their loved ones. Members come together to ask questions, give advice, and share their experiences with others who understand life with amyloidosis.

Which symptoms of amyloidosis have you experienced? What tips do you have for others who are managing these symptoms? Share your experiences below, or start a conversation by posting on your Activities page.