- Amyloidosis is a rare disease caused by amyloid protein buildup in organs like the heart, kidneys, liver, skin, or digestive tract.
- Symptoms can include swelling, shortness of breath, heart palpitations, foamy urine, tingling, tongue thickening, and unexplained weight loss.
- Treatment depends on the type of amyloidosis and the organs affected, and may involve medication, chemotherapy, surgery, or transplant.
Amyloidosis is a rare disease caused by a buildup of amyloid protein in different organs, such as the heart, skin, kidneys, liver, or digestive tract. This buildup can prevent these organs from working properly.
Amyloidosis can cause symptoms such as heart palpitations, shortness of breath, or thickening of the tongue. There are different types of amyloidosis, which are classified based on their cause.
These causes may include abnormal changes in blood plasma cells, inflammatory diseases such as rheumatoid arthritis, or inherited factors. Treatment for amyloidosis should always be managed by a doctor and may involve medications that reduce amyloid protein production and help control symptoms.
Amyloidosis symptoms
The main symptoms of amyloidosis are:
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Swelling in the legs, ankles, or feet
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Weakness and fatigue with minor physical effort
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Shortness of breath during physical activity, at rest, or when lying on your back
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Heart palpitations
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Tingling or a pins-and-needles sensation in the hands or feet
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Wrist pain, especially at night
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Bloody diarrhea or constipation
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Foamy urine
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Thickening of the tongue
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Difficulty swallowing
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Bleeding or bruising on the skin
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Excessive abdominal swelling
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Dizziness and fainting
Symptoms of amyloidosis usually appear in the more advanced stages of the disease. In the early stages, a person may not have any symptoms.
It is important to see a primary care provider if your symptoms could be related to amyloidosis, so the diagnosis can be confirmed and the best treatment started early to help prevent serious damage to affected organs.
Confirming a diagnosis
Amyloidosis is usually suspected by a primary care provider based on symptoms and initial blood and urine tests, which can detect abnormal proteins or signs of organ dysfunction.
A biopsy may then be performed to remove a small tissue sample from the affected organ, such as the heart, liver, or kidneys. According to the American Society of Hematology, when amyloid deposits are confirmed in tissue, amyloid subtyping should be performed using a validated method.
Tests such as an echocardiogram or MRI may also be used to assess organ damage. Based on the American College of Cardiology, echocardiography and cardiac MRI may suggest cardiac amyloidosis, but they are not diagnostic for ATTR cardiomyopathy on their own.
Possible causes
Amyloidosis is caused by amyloid protein deposits in the tissues. Some factors may contribute to the development of this disease, such as age, sex, other health conditions, or family history.
According to the cause, amyloidosis can be classified as:
1. Primary amyloidosis or AL
Primary amyloidosis, or AL, also called light-chain amyloidosis, is caused by changes in blood plasma cells and is very common in people with multiple myeloma. In more advanced stages, this type of amyloidosis can affect the function of organs such as the kidneys, skin, heart, liver, or nerves.
2. Secondary amyloidosis or AA
Secondary amyloidosis, or AA, can be caused by chronic diseases or prolonged periods of inflammation or infection in the body, usually lasting more than 6 months, as may occur with rheumatoid arthritis, familial Mediterranean fever, osteomyelitis, tuberculosis, lupus, or inflammatory bowel disease. This type of amyloidosis can affect the kidneys, liver, spleen, lymph nodes, or intestines.
3. Hereditary amyloidosis or AF
Hereditary amyloidosis, also called familial amyloidosis or AF, is a form of the disease caused by a change in the baby’s DNA during pregnancy. This leads to the production of an abnormal protein in the liver called transthyretin (TTR), which mainly affects the nervous system, heart, and kidneys.
Symptoms of this type of amyloidosis usually begin in adulthood, from age 50 or later in life. However, in some cases, symptoms never appear, and the person never finds out they have the disease.
4. Senile systemic amyloidosis
Senile systemic amyloidosis, also called wild-type amyloidosis, occurs when the liver produces normal TTR protein that can build up in tissues over a person’s lifetime. It is more common in older men over age 70 and can affect the heart or cause carpal tunnel syndrome.
5. Localized amyloidosis
Localized amyloidosis is the mildest form of amyloidosis. It occurs when amyloid protein is deposited in specific areas of the body, without affecting the body as a whole, because the protein is not carried through the bloodstream to other organs.
The exact cause of this type of amyloidosis is unknown. It usually affects the bladder, skin, or airways, such as the larynx or trachea.
Treatment options
Treatment for amyloidosis aims to control symptoms based on the affected organ. It may include antihypertensives, anticoagulants, or diuretics when amyloidosis affects the heart.
In addition, medications such as patisiran, inotersen, or tafamidis meglumine may be recommended to reduce amyloid protein production or prevent protein fragments from reaching the bloodstream and being deposited in organs.
The doctor may also recommend chemotherapy for cases of primary amyloidosis or AL, as well as a bone marrow transplant.
Other treatments for amyloidosis include surgery to remove the area affected by amyloid protein deposits, or even a transplant of the affected organ, for example.