Signs and Symptoms of Amyloidosis
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Medically reviewed by Christopher Lee, MD
Amyloidosis is a rare disease that occurs when a protein called amyloid builds up in your tissues and organs. Unlike other proteins in your body, amyloid cannot be broken down and recycled. As such, the build-up of amyloid can result in symptoms that affect and damage multiple organ systems including your kidneys, heart, lungs, brain, and bones.
There are several types of amyloidosis, but the most common type is AL (primary) amyloidosis. In the U.S., approximately 4,500 people receive a diagnosis for this type of amyloidosis. Those most at risk of AL amyloidosis are people between 50 and 80 years of age.
Nephrotic Symptoms
Nephrotic (kidney-related) symptoms often happen when the build-up of amyloid affects the ability of your kidneys to filter blood. Because your kidneys aren't filtering blood properly, your body isn't able to get rid of the waste and toxins, which can lead to kidney failure and other symptoms such as:
Excessive amount of proteins in your urine
Swelling in your body
Low amounts of protein in your blood
Cardiac Symptoms
When amyloid builds up in your heart muscles, you may experience various cardiac (heart-related) symptoms. Sometimes, too much build-up can cause your heart muscles to stiffen up and lead to a condition called restrictive cardiomyopathy. Restrictive cardiomyopathy often leads to heart failure. Other cardiac symptoms of amyloidosis may include:
Sudden loss of consciousness
Swelling in your feet and legs
Pulmonary Symptoms
Pulmonary (lung-related) amyloidosis occurs due to amyloid build-up in the trachea (windpipe), larynx (voice box), and nasal sinuses. This can lead to a blockage in your airways, which can cause symptoms such as:
Cough, often accompanied by mucus or blood
Fluid build-up in the lungs
Recurrent respiratory tract infections
Lung failure, over time
Gastrointestinal Symptoms
Your gastrointestinal (GI) tract is a passageway that connects your mouth to your anus. Amyloidosis in the GI tract can affect any organ including your esophagus, intestines, stomach, and colon. As a result, you may experience the following symptoms:
Unintentional weight loss
Nausea and vomiting
Fatigue
Internal bleeding
Neurological Symptoms
When amyloid build up in your nerves, the blood vessels that supply blood to your nerves, or in tissues located near your nerves, you will likely experience neurological (brain-related) symptoms. Because your brain serves as the control center for the rest of your body, you may experience symptoms that affect different parts of the body. These symptoms may include:
Tingling or burning sensation in the hands or feet
Feeling lightheaded when standing
Difficulty walking and keeping balance
Sexual dysfunction
Lack of sweating
Musculoskeletal Symptoms
Amyloidosis can also affect your musculoskeletal system, which includes your bones, joints, and muscles. A build-up of amyloid proteins in this system can cause:
Joint pain in your wrists, shoulders, knees, hips, or elbows
Swelling in the joints
Muscle weakness
Thickening of muscle tissue
Bone fractures
Loss of bone density
Body aches
Fluid build-up in the bones
Dermatological Symptoms
The build-up of amyloid can happen between the dermis and epidermis layers of the skin. This can cause dermatological (skin-related) symptoms that affect the color and texture of your skin. There are three types of amyloidosis that specifically target your skin and cause patches to form. These include:
Macular amyloidosis: The patches are dark brown in color, flat, and mildly itchy. They mostly develop in the upper back.
Lichen amyloidosis: The patches are reddish brown in color, scaly, and quite itchy. These patches usually occur below the knees.
Nodular amyloidosis: The patches are firm, raised bumps that appear red, brown, or pink in color. These nodules are not itchy, but may develop on your face and limbs.
Systemic Symptoms
Systemic amyloidosis occurs when the condition spreads throughout your whole body, affecting several organ systems at the same time. When this happens, you may experience:
Loss of appetite
Unintentional weight loss
Malaise (or, a general feeling of being unwell)
Shortness of breath
Swelling in your limbs
When to Contact a Healthcare Provider
Because symptoms of amyloidosis often mimic the symptoms of several other conditions, this disease is hard for providers to diagnose. Still, you should see a healthcare provider if you notice changes to your physical well-being and experience symptoms of amyloidosis. It's a good idea to see your provider as soon as possible if you're having any of the following symptoms:
Difficulty breathing
Excessive and unintentional weight loss
Loss of appetite
Irregular heartbeat
Extreme weakness
Swelling throughout your body
Healthcare providers can recommend several tests to confirm an amyloidosis diagnosis such as blood tests, imaging tests, genetic tests, tissue biopsies, and urine tests.
A Quick Review
Amyloidosis is a rare condition that occurs when a build-up of amyloid affects your organs and tissues. This disease can cause damage in one or more of your body systems at the same time, including your kidneys, heart, lungs, GI tract, brain, bones, joints, muscles, and skin. If you have symptoms that affect any of these organs, see your healthcare provider for proper testing. If left untreated, this condition can lead to serious complications, like organ failure.
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