What Is Amyloidosis?
Amyloidosis refers to not just one disease, but a series of diseases that affect how the body makes and deposits proteins. In individuals with this disease, amyloid proteins (which are toxic, insoluble and tend to form B-pleated sheets) are deposited in organs and tissues around the body. Over time, these build up and can lead to serious (and potentially life-threatening) health complications such as heart and kidney failure, nerve damage, impaired liver function, and gastrointestinal disease.
Though rare, this condition is serious, and in severe cases, can lead to potentially fatal organ failure. There is no cure for this disease, but there are treatments available that can help to manage the symptoms and limit disease progression.
Different Types of Amyloidosis
There are several types of amyloidosis, each with a different cause. Some of the most common types are:
AL Amyloidosis (Age-related Amyloidosis)
AL amyloidosis is the most common form of the condition, and is primarily linked to age. The average age of diagnosis is 65 years, and fewer than 10% of people with this type of condition are under the age of 50.
This is also known as a secondary form of the disease. AA amyloidosis develops as a complication of other underlying medical conditions. These are usually chronic infections or inflammatory disorders such as rheumatoid arthritis, inflammatory bowel disease and ankylosing spondylitis.
In rare cases, this disease has a hereditary factor and can be passed on through families. The most common type of this form of the disease is called ATTR, and is caused by mutations in the TTR gene.
Dialysis-related amyloidosis develops as a side-effect of long-term kidney dialysis.
The symptoms of the disease may vary depending on which organs are affected, though it most commonly affects the kidneys. The typical symptoms of amyloidosis, and which organ they relate to, are summarized below.
- Symptoms affecting the kidneys: decreased urination; bubbly, foamy or frothy urine; swelling of the feet or legs
- Symptoms affecting the liver: an enlarged liver
- Symptoms affecting the gastrointestinal system: diarrhea, constipation, gastrointestinal bleeding
- Symptoms of amyloidosis in heart: heart palpitations, chest pain, shortness of breath, swelling of the feet and legs
- Symptoms of affecting the spleen: an enlarged spleen
- Symptoms of affecting the thyroid: an enlarged thyroid
In severe cases, the disease can lead to organ failure. Therefore, it is vital that people with the condition are aware of the warning signs,
which may include:
- Symptoms of kidney failure: tiredness or weakness, loss of appetite, swelling of the feet or legs
- Symptoms of heart failure: an irregular heartbeat, shortness of breath, swelling of the feet or legs
The disease can affect any organ or tissue within the body, which means symptoms can vary significantly between individuals. Other possible signs and symptoms can include:
- Lightheadedness or fainting (especially upon standing up)
- Numbness or tingling in the hands and feet (a sign of nerve damage)
- An enlarged tongue
- Nausea and vomiting
- Constipation and diarrhea
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What Are the Risk Factors?
Amyloidosis can affect anyone, but certain factors can increase your risk of developing the disease. These include:
The most common type of the disease (AL amyloidosis) is strongly associated with age, and is typically diagnosed in people aged 60 to 70 years (though earlier onset is possible).
Men are significantly more likely to get this disease compared women, and account for almost 70% of diagnosed cases.
Some types of the disease are hereditary, and are caused by a specific gene mutation. This can be passed on from parent to offspring so, so if there is a history in your family, you have a higher risk of developing the disease.
This health condition can also develop as a side effect of long-term kidney dialysis. Though the precise rates of incidence are unknown, studies suggest that amyloidosis develops in 20% of people who receive kidney dialysis for two to four years, and 100% of patients who receive kidney dialysis for 13 years.
Other Medical Conditions
AA amyloidosis develops as a complication of other medical conditions. These are often chronic infections (like tuberculosis) or chronic inflammatory diseases (such as rheumatoid arthritis or inflammatory bowel disease).
How Is the Disease Diagnosed?
Early diagnosis is key for the successful treatment, as this can help to slow disease progression and prevent further organ damage. Diagnosis is made using a series of tests, including:
Your doctor may perform tests to check for the presence of abnormal proteins in your blood and urine that can point to the disease. They may also want to perform tests to assess the function of your liver and thyroid.
A tissue sample (which may be taken from an organ, your abdominal fat, or your bone marrow), may be taken for analysis. This procedure (known as a biopsy) is performed to determine what type of the disease you have.
By examining images of the organs affected by the disease, doctors can assess how far progressed the disease is.
Though there is no cure for the disease, there are various treatment options that can effectively relieve the symptoms, slow down the progression of the disease, and prevent further organ damage. Treatment options for the different types of amyloidosis include:
Certain medications can help to reduce the general symptoms. These are:
- Pain relief medication
- Medication for managing symptoms such as constipation, diarrhea, nausea, or vomiting
- Medication for controlling the heart rate
- Blood thinners (to prevent clots)
- Diuretics (to prevent fluid build-up and swelling in the body)
Other treatments for the disease are prescribed based on what form of the disease you have.
Treatment for AL Amyloidosis
The main treatment for this type of the disease is chemotherapy. Though more widely used to treat cancer, these drugs can also be used to destroy the abnormal blood cells responsible for producing amyloid proteins and slow the progression of the disease.
Treatment for AA Amyloidosis
As AA amyloidosis arises as a result of a primary, chronic health condition, treatment is based on addressing the underlying medical issue. In the case of chronic bacterial infection this will be done using antibiotics. If a chronic inflammatory disease is the cause, anti-inflammatory drugs will be the prescribed treatment.
Treatment for Dialysis-related Amyloidosis
This form of the disease may be treated by changing what type of dialysis you get, or by having a kidney transplant.
Treatment for Hereditary Amyloidosis
There are some medical treatments that may slow or even prevent the progression of the hereditary type. However, liver transplantation is often considered the best course of action for treating this form of amyloidosis, as the liver is where the amyloid protein is produced.
This disease often arises as a result of other, long-term health conditions. Other causative factors may include age and certain genetic mutations that may passed on through families, which can factor into amyloidosis life expectancy. Other forms of may arise as a result of chronic infection or inflammatory diseases, or long-term kidney dialysis.
Whatever the cause, this is a serious disease that can lead to life-threatening organ failure if it’s not properly managed. Treatment options mainly focus on relieving the symptoms of the condition and preventing or slowing disease progression, and are given based on the type and severity of your diagnosis.