About Amyloidosis
Amyloidosis is a rare disease where abnormal proteins called amyloid build up in one or more organs. These amyloid proteins are unable to be broken down and recycled like normal proteins, causing them to clump together and form amyloid deposits. These deposits can damage organs and tissues, leading to various symptoms depending on which organs are affected. Amyloidosis commonly affects the kidneys, heart, nervous system, liver, and gastrointestinal tract. Symptoms can include albuminuria, nephrotic syndrome, kidney failure, heart failure, irregular heart rhythm, enlarged heart, numbness or weakness in the nervous system, intestinal bleeding or obstruction, poor nutrient absorption, low blood counts, joint pain or swelling, and lumps or discoloration of the skin. Amyloidosis is not a single disease but rather a group of diseases caused by different types of amyloid proteins, each affecting the body differently. Its exact cause is unknown but chronic inflammation or genetic mutations may play a role.
The two most common types of amyloidosis are:
- Primary amyloidosis (AL): Caused by abnormal proteins from the bone marrow, affecting organs like the heart and kidneys
- Secondary amyloidosis (AA): Linked to long-term inflammatory conditions, with protein deposits often in the kidneys or liver
The disease causes of amyloidosis include:
- High levels of serum amyloid A protein (SAA): This occurs when the body makes too much of this protein during inflammation, which can lead to amyloidosis.
- Excessive production of immunoglobulin light chains: These are parts of antibodies, and producing too many of them can cause a type of amyloidosis called AL amyloidosis.
- Overproduction of islet amyloid polypeptide (IAPP): This happens in the pancreas of people with type 2 diabetes and can contribute to amyloidosis.
- Genetic changes (mutations): Changes in certain genes can cause proteins to fold incorrectly, leading to amyloidosis.
The non-modifiable risk factors for amyloidosis are factors that cannot be changed or controlled. These include:
- Age: Although amyloidosis can develop in young adults, the most common form occurs more often between 50 and 80 years of age.
- Family history: Having a close blood relative with amyloidosis increases the risk, especially for the genetic form.
The modifiable risk factors for amyloidosis are factors that can be influenced or changed. These include:
- History of inflammatory disease: Conditions like arthritis or inflammatory bowel disease can trigger AA amyloidosis.
- Dialysis: Long-term dialysis to treat kidney disease increases the risk of developing a specific form of amyloidosis.
It's important to note that these risk factors are not exhaustive, and individual circumstances may vary. Always consult with a healthcare professional for personalized advice.
The most common early symptoms of amyloidosis can vary depending on which organs are affected. However, some common early symptoms include weakness, unexplained weight loss, edema (swelling), nausea, chest pain, dizziness, abnormal heart rhythm, bruising around the eyes, and hoarseness.
As amyloidosis progresses or becomes more severe, additional symptoms may occur. These can include:
- Swelling in parts of the body (such as the legs) due to fluid buildup
- Foamy urine from excess protein
- Pain and swelling in the upper abdomen
- Shortness of breath
- Fast, slow, or irregular heart rate
- Low blood pressure leading to light headedness
- Chronic diarrhea, constipation, or excessive gas
- Vomiting
- Blood in the stool (which may appear red or black like coffee grounds)
- Muscle weakness
- Joint pain
- Enlarged tongue
- Difficulty chewing or swallowing
- Rash
- Memory problems
- Nerve pain or numbness
It's important to discuss any symptoms you may be experiencing with your healthcare professional for an accurate diagnosis and appropriate management.
The diagnosis of amyloidosis varies depending on the type and underlying cause of the condition. To diagnose amyloidosis, doctors commonly perform the following examinations, tests, and procedures:
- Physical exam:
- Examining joints for swelling: Swelling may result from inflammation or amyloid deposits affecting joint structures.
- Checking the skin for rashes or discoloration: Discoloration, such as bruising or purpura, can occur due to amyloid buildup in blood vessels.
- Cardiac (heart) evaluation:
- Testing the heart for signs of heart failure or enlargement: Cardiac amyloidosis can stiffen heart walls, leading to symptoms like heart failure, irregular heartbeats, or an enlarged heart
- Neurological and sensory assessment:
- Checking hands, feet, arms, and legs for fluid swelling or poor sensation: Swelling may indicate kidney or heart involvement, while poor sensation is a sign of nerve damage (peripheral neuropathy)
- Evaluating mental status to assess possible dementia: Amyloid deposits in the brain can occasionally contribute to cognitive symptoms.
- Gastrointestinal (GI) evaluation:
- Testing for blood in the stool or gastrointestinal bleeding: Amyloid deposits in the GI tract may cause bleeding, absorption issues, or changes in bowel habits.
- Muscle assessment:
- Examining muscles for weakness: Muscle weakness may occur due to nerve involvement or amyloid deposits affecting muscle tissue
- Kidney function:
- Collecting urine to test for excess protein: Protein in the urine (proteinuria) is a common indicator of kidney involvement, often seen in AL or AA amyloidosis
To determine the stage or severity of amyloidosis, additional examinations, tests, and procedures may be recommended based on individual circumstances. These may include:
- Lab tests: Specific blood draws to assess organ function and identify abnormal proteins.
- Imaging studies: X-rays or magnetic resonance imaging scans (MRIs) to visualize affected organs and tissues.
- Clinical procedures: Depending on which part of the body is affected, specific tests to check for damage cause by amyloidosis may be recommended. For example, an echocardiogram (heart ultrasound) might be used to look at how well the hearts is working.
It's important to follow up with your healthcare provider if symptoms worsen or change after the initial examination. They can provide further guidance and recommend appropriate diagnostic measures.
The goals of treatment for amyloidosis vary depending on the type and underlying cause of the condition. Here are the treatment approaches and their corresponding goals:
- Treating the underlying disease: For secondary amyloidosis, the primary goal is to treat the underlying condition, such as tuberculosis or rheumatoid arthritis, to prevent further progression of amyloidosis.
- Alleviating symptoms and slowing disease progression: In primary amyloidosis, there is no cure, so treatment focuses on managing symptoms and slowing down the progression of the disorder. This may involve medications like corticosteroids, chemotherapy agents, colchicine, or newer drugs called transthyretin stabilizers specifically designed to target certain types of amyloid.
- Targeting B-cell NHL: In cases where amyloidosis is associated with B-cell non-Hodgkin lymphoma (NHL), treatment aims to eliminate the production of amyloid protein by targeting the underlying lymphoma. This may involve chemotherapy regimens, immunomodulatory drugs, or targeted therapies like rituximab-based regimens.
- Controlling the activity of the underlying disorder: For AA amyloidosis, which is associated with chronic inflammatory diseases like rheumatoid arthritis, treatment focuses on controlling the activity of the underlying disorder. This may involve medications that reduce inflammation, such as TNF inhibitors or tocilizumab.
- Suppressing abnormal plasma cells: In AL amyloidosis, which is associated with abnormal plasma cells in the bone marrow that produce faulty proteins called light chains, treatment aims to lower the number or abnormal plasma cells in the body, so they stop making harmful proteins. This is called achieving a “hematological response,” which means the blood shows fewer signs of the abnormal proteins. Treatment may involve high-dose chemotherapy followed by a stem cell transplant, where healthy stem cells from the patient’s own body are used to replaces damaged cells. Other therapies may also target the abnormal plasma cells.
It's important to note that these treatments should be discussed with a healthcare professional who can provide personalized advice based on individual circumstances. Health behavior changes and supportive care may also be recommended as part of a comprehensive treatment plan.
Medication dosing may be affected by many factors. Check with your health care professional about dosing for your individual situation. Side effects can occur. Check with your health care professional or read the information provided with your medication for side effect information.