Medically reviewed and verified by Kate Burke, MD, MHA
Estimated reading time: 9 minutes
Amyloidosis is a rare disease, caused by a buildup of abnormal protein deposits called amyloids in the body. Normal proteins have a 3-Dimensional structure and play a specific role in the body. When they finish their assigned task, they leave your bloodstream. When they misfold, however, they become twisted clumps, also known as fibrils. They travel along your bloodstream until they reach healthy organs, where they start to build up. These proteins can accumulate in any organ, which in turn causes them to not work properly. Affected areas include the heart, kidneys, liver, spleen, nervous system and digestive tract. Amyloidosis is often widespread, or systemic, affecting multiple organs at the same time. This can result in life-threatening organ damage.
Roughly 9 to 14 million people in the United States have amyloidosis. While there is no cure, there are several treatments that can help prevent further buildup of amyloids and ease symptoms. Today, PatientsLikeMe will be detailing how this disease starts, the distinct types, common symptoms, and treatments.
Causes of Amyloidosis
So why does the body start producing these harmful protein deposits? There are a few possibilities. Bone marrow, the spongy substance found in the center of bones, is one key player. Bone marrow produces bone marrow stem cells, which produce blood cells. Red blood cells, white blood cells, platelets and plasma all come from the bone marrow. In the most common form of amyloidosis, the plasma cells produced by the marrow can misfold protein, forming amyloid proteins. These proteins then deposit around different organs, building up and causing damage.
Another possibility is a mutation in a specific gene. Sometimes, a mutation in the transthyretin or normal transthyretin gene causes a certain form of amyloidosis. Known as ATTR amyloidosis, this condition is passed down in families and is more common in certain ethnic groups. It commonly affects the heart and nerves.
Finally, certain chronic diseases can result in amyloid protein production. Tuberculosis, rheumatoid arthritis, or periodic fever syndromes may cause the body to produce a serum amyloid A protein. This is the common cause of secondary amyloidosis, also called autoimmune amyloidosis (AA).
Amyloidosis Types
Primary (AL) Amyloidosis:
Primary amyloidosis is the most common type, with about 4,500 new cases a year. It usually affects people between 50-80 years old, and about two-thirds of the patients are male. When a plasma cell becomes malignant, it replicates uncontrollably and starts producing a protein that interferes with normal body function. These misfolded proteins accumulate in organs such as the heart, kidneys, and nervous system, causing various symptoms. While it often affects multiple organs, AL amyloidosis does not impact the brain.
Secondary (AA) Amyloidosis:
Secondary amyloidosis is often a consequence of chronic inflammatory diseases, such as rheumatoid arthritis or inflammatory bowel disease. When there are elevated levels of inflammation in the body, your body starts producing a serum A protein. With long lasting infections, these proteins can continue to accumulate in your body. The proteins primarily deposit in the kidneys, liver, and spleen. The kidney is the most commonly affected organ.
Hereditary (ATTR) Amyloidosis:
Hereditary amyloidosis, driven by genetic mutations, results in the production of abnormal transthyretin (TTR) protein. This protein is produced by the liver, and when it breaks apart it creates fibrils that end up in your heart or your nerves.
Wild-type ATTR Amyloidosis
A variant on ATTR amyloidosis, this form is caused by aging. Sometimes the TTR protein mentioned above can become unstable because of age, causing it to misfold. There is no genetic component in play and is most often reported in men over the age of 60. It is also most associated with cardiomyopathy, a heart disorder.
Localized Amyloidosis
The four types we talked about above are systemic forms of the condition. That means they can affect multiple parts of the body simultaneously. In the localized version of amyloidosis, only one part of the body is affected. This typically does not become systemic and can be treated through radiation therapy or surgery.
Symptoms of Amyloidosis
The symptoms of amyloidosis can vary dramatically. Here are some signs to watch out for:
- Urine Changes / Swollen Legs: Amyloidosis can damage the kidney. This may cause protein to leak from your blood into your urine. Urine can be foamy, or you may urinate less. Water can leak out of the blood vessels into your feet. This in turn can cause swelling.
- Weight Loss: Amyloidosis can affect your digestive system. It can also affect your ability to digest food and absorb nutrients.
- Fatigue: Feeling tired is a common symptom. This can come about from anemia, poor diet, nausea, anxiety, or the treatment itself.
- Shortness of Breath: If amyloidosis affects your heart, it can limit your heart's ability to fill with blood. This means less blood is pumped with each beat, which may cause you to feel short of breath. Amyloidosis that affects the lungs also can cause shortness of breath.
- Numbness, Tingling, or Pain: If amyloid proteins collect in nerves in your hands, you may feel pain. If they collect in the nerves to your feet, you may experience numbness, lack of feeling, or burning.
- Diarrhea or Constipation: These proteins can affect the GI tract, which can result in diarrhea or constipation. Chronic diarrhea is one of the most common symptoms to watch for.
- Skin Changes: Sometimes the condition affects the skin. You may notice it thickening or bruising easily along the face or chest. There may also be purplish patches around your eyes. The skin is often itchy.
- Irregular Heartbeat: Amyloidosis may affect how electrical signals move through your heart. This can lead to abnormal heartbeats and heart signals.
- Dizziness: When nerves that control blood pressure are affected, you may feel dizzy as a result. This is because of a sudden drop of blood pressure when standing up.
How is it Diagnosed?
Diagnosing amyloidosis is a challenge. Sometimes, it is overlooked because the symptoms can mimic other, more common diseases. Early diagnosis is important and being precise more so. Treatment of the condition can vary depending on which specific form you have. Here are some common ways it is diagnosed.
- Laboratory Tests: Doctors can collect blood and urine for analysis. They will look for abnormal proteins to inform their diagnosis. Thyroid and kidney function tests may also be required.
- Tissue Biopsy: A cornerstone for diagnosis involves a biopsy. This means doctors will take a tissue sample, usually from the fat under the skin or from the bone marrow. Some people may require a biopsy of a specific organ that is affected. The tissue sample can then be tested to determine which type of amyloid is involved.
- Imaging Studies: There are many ways to get an image of affected organs. An echocardiogram uses sound waves to explore the heart. A MRI uses radio waves and a magnetic field to create detailed pictures of organs and tissues. Finally, nuclear imaging involves injecting small amounts of radioactive tracers into the blood. Do not worry! It is not dangerous. It allows doctors to distinguish between distinct types of amyloidosis to guide treatment.
Treatment Options
Because amyloidosis is a complex condition that can affect a wide range of organs, treatment is similarly complex. There are several options out there to help manage symptoms. To begin with, understand that there will be a multidisciplinary team involved in your care. This means that different doctors, each an expert in a specific part of the body, will offer their insight. Commonly, this team includes:
- Hematologist: Blood disorder specialist
- Cardiologist: Heart specialist
- Gastroenterologist: Digestive system specialist
- Pulmonologist: Lung specialist
- Nephrologist: Kidney specialist
- Neurologist: Brain and nervous system specialist
Now what will these doctors typically prescribe for treatment? Depending on the condition and its severity, they can go a number of routes. It is important to remember that each of these treatment methods have side effects you should discuss with your physician.
Medications
Treating amyloidosis with medication is an attempt to destroy the abnormal cells. It can be introduced through the blood steam or given locally. There are two types of medication regimens: chemotherapy and targeted therapy.
Chemotherapy, most commonly used to treat cancer, involves the use of drugs to destroy abnormal cells in the blood. This is an attempt to stop them from growing and spreading. Targeted therapy, on the other hand, treats specific genes or proteins that contribute to amyloidosis. This form looks at the specific genetic changes that have helped the misfolded proteins spread. Once the protein is identified, a drug treatment that targets it can be developed.
Surgery
Because amyloidosis is a progressive disease that affects organs, transplants are a potential avenue for treatment. At advanced stages, there are no medications that can treat patients. Therefore, replacing the affected organ is one of the ways to extend life. Another advanced intervention is stem cell transplantation. This procedure involves replacing unhealthy bone marrow with healthy stem cells, a way to stop abnormal protein production.
Supportive Treatment
Some specific symptoms caused by the accumulation of amyloids can be treated without surgery or advanced medication regimens. Diuretics, which help reduce fluid buildup, can alleviate pain and swelling. Reducing the amount of salt in your diet can also help if the heart or kidneys are affected. Certain dietary changes and supplements can help as well. These may be able to control symptoms like chronic diarrhea or nausea.
Amyloidosis is a complex disease. Working closely with your physicians, building a strong support network, and managing your health through treatment and lifestyle changes can help you live a long and enriching life. Like any condition, it has its challenges. PatientsLikeMe is here to offer resources and support when needed.
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