Amyloidosis is a rare disease that happens when an abnormal protein called amyloid builds up in the body. Normally, proteins are made and used by the body in a controlled way. But in amyloidosis, the body produces misfolded proteins that clump together and form amyloid deposits. These deposits can collect in organs and tissues, making it hard for them to work properly. Amyloid can build up in places like the heart, kidneys, liver, nervous system, digestive system, and more.
Because it’s a rare condition and symptoms can look like other diseases, amyloidosis is often hard to diagnose. But when caught early, treatment can help manage symptoms and slow down the disease. While there is no cure in most cases, many people live for years with the condition through proper care and support.
What Causes It And What Types Exist
Amyloidosis is not caused by just one thing. Instead, it happens when your body makes proteins that don’t fold the right way. These misfolded proteins are not broken down properly and begin to pile up. Scientists don’t fully understand why this happens in some people, but they do know that certain risk factors increase your chances.
Your risk may be higher if you are older, have chronic diseases, or have family members who have had amyloidosis. Some forms are linked to other conditions, like multiple myeloma, which is a type of blood cancer. Other forms are genetic and can run in families. Sometimes, the cause is unknown.
There are a few main types of amyloidosis:
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AL (Light Chain) Amyloidosis: This is the most common type in the United States. It happens when the bone marrow makes abnormal antibodies that form amyloid deposits. AL amyloidosis is often linked to plasma cell problems, such as multiple myeloma.
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AA (Secondary) Amyloidosis: This type is caused by long-term inflammation from diseases like rheumatoid arthritis or infections. The body reacts to the inflammation by making too much of a certain protein, which turns into amyloid.
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Hereditary or Familial Amyloidosis: This is a rare, inherited type that is passed down through families. It often affects the liver, nerves, and heart.
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Wild-Type (Senile) Amyloidosis: This form usually affects older men and mainly involves the heart. It’s not inherited or linked to other diseases.
Knowing which type you have is important, because the treatment and outlook can be very different for each one.
Recognizing The Symptoms
Amyloidosis can be hard to detect early on, because its symptoms are often vague and develop slowly. They also vary depending on where the amyloid is building up in the body. Some people don’t even realize anything is wrong until the disease has affected major organs.
Symptoms can include:
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Swelling in the legs, ankles, or around the eyes
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Extreme tiredness or weakness
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Shortness of breath, especially during activity
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Numbness or tingling in the hands or feet
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Irregular heartbeat or heart failure
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Unexplained weight loss
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Diarrhea or constipation
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Trouble swallowing or a feeling of fullness
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Foamy urine, which may be a sign of kidney damage
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An enlarged tongue or bruising around the eyes
Because these signs are similar to those of other conditions, many people go months or even years without a correct diagnosis. That’s why it’s important to see a doctor if you notice ongoing symptoms that don’t go away or keep getting worse.
How Amyloidosis Is Diagnosed
Diagnosing amyloidosis usually starts with a visit to your doctor, who will ask about your symptoms and medical history. A physical exam might show swelling, an irregular heartbeat, or other signs that something is wrong. But amyloidosis can’t be diagnosed with just one simple test.
Doctors often begin with blood and urine tests to look for abnormal proteins or signs that your kidneys or other organs are not working right. These tests can give important clues, but they are just the first step. To confirm the diagnosis, a biopsy is usually needed. This means taking a small piece of tissue—often from the abdominal fat, bone marrow, or affected organ—and examining it under a microscope. Special stains can show whether amyloid deposits are present.
In some cases, imaging tests like MRI, echocardiogram, or nuclear scans are used to check how much damage has been done to the heart or other organs. Genetic testing may also be helpful if a hereditary form is suspected.
Getting a correct diagnosis is essential, because treatment decisions are based on the type of amyloidosis and which organs are affected.
Available Treatments And Care Options
There is no cure for most types of amyloidosis, but treatments can help slow the buildup of amyloid, manage symptoms, and improve quality of life. The goal is to reduce the number of abnormal proteins being made and to support any organs that have been damaged.
Treatment depends on the type of amyloidosis:
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AL Amyloidosis: Treatment often includes chemotherapy to stop the bone marrow from making abnormal plasma cells. Medications similar to those used for multiple myeloma may be used. Some patients may also be candidates for a stem cell transplant if they are healthy enough.
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AA Amyloidosis: Treating the underlying inflammation is key. If the cause is an infection or autoimmune disease, managing that condition can reduce the production of the harmful protein.
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Hereditary Amyloidosis: New drugs are available that can slow or block the production of the specific protein involved. In some cases, a liver transplant may be considered, especially if the liver is the source of the abnormal protein.
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Wild-Type Amyloidosis: Treatment usually focuses on managing heart symptoms. New medications can also help slow disease progression in some people.
Supportive care is a big part of treatment. This might include diuretics to reduce swelling, heart medications to control symptoms, or dialysis if the kidneys are failing. A team of doctors—often including a hematologist, cardiologist, and nephrologist—works together to create a personalized care plan.
Because amyloidosis affects so many parts of the body, regular follow-ups and monitoring are essential. Treatments may need to be adjusted over time depending on how well the disease is responding and how the patient is feeling.
Living With Amyloidosis
Amyloidosis can be a life-changing diagnosis, but many people live meaningful lives with the condition. The key is early detection, proper treatment, and ongoing care. While the road may be challenging, advances in medicine have made it possible to manage the disease more effectively than ever before.
Lifestyle changes can help you feel better and stay stronger during treatment. These include eating a balanced diet, staying active as much as possible, avoiding alcohol and tobacco, and getting plenty of rest. Managing stress, connecting with loved ones, and talking to a therapist or support group can also improve emotional well-being.
Though amyloidosis is rare, awareness is growing, and treatments continue to improve. By understanding your type of amyloidosis and working closely with your care team, you can take control of your health and live as fully as possible.
