Amyloidosis is a rare disorder that is caused by a buildup of amyloid in your organs. Amyloid is a protein that is typically produced by your bone marrow, but it can be deposited into any tissue or organ. There are many different types of amyloidosis, depending on which organs are affected. It is common for this condition to affect the heart, kidneys, liver, spleen, nervous system, and digestive tract.
Symptoms
It is normal for patients with amyloidosis not to experience any signs or symptoms until the condition is very advanced. When symptoms do begin to present themselves, they will vary depending on which organs are being affected. Common symptoms include:
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Shortness of breath
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Irregular heartbeat
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Difficulty swallowing
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Numbness, tingling, or pain in the hands and feet
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Severe fatigue
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Swelling of the ankles and legs
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Diarrhea that may include blood
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Constipation
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Significant weight loss caused by feeling full very quickly when eating
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Enlarged tongue
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Skin changes such as easy bruising or thickening and purple-colored patches around the eyes
Causes
Amyloidosis is caused by a buildup of the protein amyloid. However, the specific cause of this to occur will depend on which type of amyloidosis you are being affected by. The common types include:
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Immunoglobulin light chain (AL) amyloidosis: This is the most common type of amyloidosis, and it affects your heart, kidneys, skin, nerves, and liver. This type of amyloidosis occurs when your bone marrow produces abnormal antibodies that cannot be broken down, which are then deposited in your tissues and interfere with normal functions.
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Hereditary amyloidosis: This type of amyloidosis is inherited from someone in your family, and it affects the liver, nerves, heart, and kidneys.
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Dialysis-related amyloidosis: This type of amyloidosis develops with proteins in your blood are deposited in your joints and tendons, which leads to pain and stiffness in these joints. It is typical for people who are on long-term dialysis to develop this type of amyloidosis.
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AA amyloidosis: This type of amyloidosis affects your kidneys, digestive tract, liver, or heart. It occurs as a result of chronic infectious or inflammatory disease such as inflammatory bowel disease or rheumatoid arthritis.
Diagnosis
Since the signs and symptoms of amyloidosis often resemble those of other more common diseases, this condition is often overlooked or misdiagnosed. Being diagnosed as early as possible is crucial for preventing irreparable damage to your organs. Tools used for diagnosis include:
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Laboratory tests: Analyzing your blood and urine for abnormal proteins will help your doctor to see any indicators for amyloidosis.
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Biopsy: In some cases, a tissue sample may be taken to be examined for signs of amyloidosis. This also helps to determine the specific type of amyloidosis.
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Imaging tests: Taking pictures of the organs affected will help your doctors to know the extent of the disease thus far, which will help to decide a treatment plan.
Treatments
Treatment for amyloidosis will depend heavily on the type of amyloidosis you are diagnosed with. For example, treatment for AL amyloidosis will typically include chemotherapy or a peripheral blood stem cell transplant. Treatment for other types of amyloidosis may involve treating the underlying condition that is causing amyloidosis, organ transplants, or other changes to your lifestyle. Medications for amyloidosis may include pain medications, diuretics, blood thinners, and heart medications.
