Amyloidosis: Symptoms, Causes, Treatment

What are the symptoms of amyloidosis?

Amyloidosis is a rare disease that occurs when amyloid proteins build up in tissues and organs, affecting their structure and function. The symptoms of amyloidosis can vary depending on the organs affected and the extent of the amyloid deposition. Common symptoms of amyloidosis may include:

1. Fatigue: Feeling tired or weak, which can be persistent and severe.
2. Swelling: Swelling in the ankles, legs, or other parts of the body, known as edema.
3. Shortness of breath: Difficulty breathing or feeling short of breath, which can occur due to fluid buildup in the lungs.
4. Unintended weight loss: Losing weight without trying can be a symptom of amyloidosis.
5. Numbness or tingling: Sensations of numbness, tingling, or burning in the hands or feet, known as peripheral neuropathy.
6. Skin changes: Changes in the skin, such as easy bruising, purplish patches around the eyes, or a waxy appearance.
7. Enlarged tongue: The tongue may become enlarged or stiff, making it difficult to speak or swallow.
8. Heart problems: Amyloid deposits in the heart can lead to heart failure, arrhythmias (irregular heartbeats), or other cardiovascular issues.
9. Kidney problems: Amyloid deposits in the kidneys can lead to proteinuria (excess protein in the urine), nephrotic syndrome, or kidney failure.
10. Gastrointestinal symptoms: Symptoms such as diarrhea, constipation, abdominal pain, or difficulty swallowing may occur.
11. Liver enlargement: The liver may become enlarged due to amyloid deposits.
12. Neurological symptoms: In some cases, amyloidosis can affect the nervous system, leading to symptoms such as dizziness, fainting, or difficulty with balance or coordination.

It’s important to note that the symptoms of amyloidosis can vary widely from person to person, and not everyone with amyloidosis will experience all of these symptoms. Additionally, some symptoms of amyloidosis, such as fatigue or weight loss, can be non-specific and may be caused by other conditions. If you experience persistent or unexplained symptoms, it’s important to see a healthcare provider for a proper evaluation and diagnosis.

What are the causes of amyloidosis?

Amyloidosis is caused by the abnormal accumulation of amyloid proteins in tissues and organs throughout the body. Amyloid proteins are normally produced by the liver and bone marrow, but in amyloidosis, these proteins are not broken down and cleared from the body as they should be. Instead, they accumulate in various tissues and organs, interfering with their normal structure and function. The exact cause of amyloidosis is not always known, but it can be associated with several underlying conditions, including:

1. Light chain (AL) amyloidosis: This type of amyloidosis is caused by the abnormal production of antibodies by a type of white blood cell called plasma cells. The antibodies are broken down into amyloid proteins, which can accumulate in tissues and organs. AL amyloidosis is often associated with multiple myeloma, a type of blood cancer.
2. Transthyretin (ATTR) amyloidosis: This type of amyloidosis is caused by the buildup of a protein called transthyretin, which is produced by the liver. ATTR amyloidosis can be hereditary (caused by mutations in the transthyretin gene) or acquired (caused by the buildup of abnormal transthyretin protein in the body).
3. Dialysis-related amyloidosis: People who undergo long-term dialysis treatment for kidney failure may develop amyloidosis due to the accumulation of a protein called beta-2 microglobulin, which is not effectively removed by dialysis.
4. Senile systemic amyloidosis: This type of amyloidosis occurs in older adults and is caused by the buildup of normal transthyretin protein in tissues and organs.
5. Secondary amyloidosis: This type of amyloidosis is caused by chronic inflammatory conditions such as rheumatoid arthritis, inflammatory bowel disease, or chronic infections. Chronic inflammation can lead to the production of an abnormal protein called serum amyloid A, which can accumulate in tissues and organs.
6. Familial Mediterranean fever (FMF): This is a genetic disorder that can lead to secondary amyloidosis due to chronic inflammation.
7. Other rare causes: There are other rare conditions and genetic mutations that can lead to amyloidosis, but they are less common.

Overall, amyloidosis is a complex condition with multiple potential causes. The specific cause of amyloidosis can influence the type of treatment and management approach used for the condition.

What is the treatment for amyloidosis?

The treatment for amyloidosis depends on the type of amyloidosis, the organs affected, and the severity of the disease. The primary goal of treatment is to reduce the production of amyloid proteins, remove existing amyloid deposits, and manage symptoms. Treatment options for amyloidosis may include:

1. Chemotherapy: For AL amyloidosis (amyloidosis caused by abnormal antibody production), chemotherapy drugs may be used to target and kill abnormal plasma cells that produce amyloid proteins. This can help reduce the production of amyloid proteins and slow the progression of the disease.
2. Stem cell transplant: In some cases of AL amyloidosis, a stem cell transplant may be recommended to replace diseased bone marrow with healthy stem cells that can produce normal blood cells.
3. Targeted therapy: Newer targeted therapies, such as proteasome inhibitors and immunomodulatory drugs, may be used to specifically target abnormal plasma cells in AL amyloidosis.
4. Liver transplant: For hereditary ATTR amyloidosis (amyloidosis caused by mutations in the transthyretin gene), a liver transplant may be recommended to replace the liver, which is the primary source of the abnormal protein.
5. TTR stabilizers: Stabilizers such as tafamidis and diflunisal can help prevent the breakdown of transthyretin in ATTR amyloidosis, slowing the progression of the disease.
6. Supportive care: Supportive care may be provided to manage symptoms and improve quality of life. This may include medications to manage pain, swelling, or other symptoms, as well as dietary and lifestyle changes.
7. Dialysis: For dialysis-related amyloidosis, dialysis treatment may be adjusted to remove excess beta-2 microglobulin and reduce the risk of further amyloid deposition.
8. Heart or kidney transplant: In some cases of amyloidosis affecting the heart or kidneys, a transplant of the affected organ may be considered.
9. Clinical trials: Participation in clinical trials may be an option for some patients, especially those with advanced or refractory disease who are not responding to standard treatments.

Treatment for amyloidosis is often complex and requires a multidisciplinary approach involving specialists in hematology, nephrology, cardiology, and other fields. The goal of treatment is to slow the progression of the disease, manage symptoms, and improve quality of life. Early diagnosis and treatment are important for improving outcomes in people with amyloidosis.

What is the life expectancy of somebody with amyloidosis?

The life expectancy of someone with amyloidosis can vary widely depending on several factors, including the type of amyloidosis, the organs affected, the stage of the disease at diagnosis, and the overall health of the individual. In general, untreated amyloidosis can be a serious and life-threatening condition. However, with advances in treatment, particularly for AL amyloidosis, many people are living longer with the disease.

For AL amyloidosis, the median survival time (the time at which half of the patients are still alive) without treatment is typically around 1 to 2 years from the time of diagnosis. However, with treatment, particularly with chemotherapy and stem cell transplant, the median survival time can be significantly extended, with some studies reporting median survival times of 5 to 7 years or longer.

For hereditary ATTR amyloidosis, the prognosis can vary depending on the specific genetic mutation involved and the organs affected. Without treatment, the disease can progress and lead to significant organ damage and complications. However, with treatment, particularly with liver transplant or TTR stabilizers, the progression of the disease can be slowed, and life expectancy can be extended.

It’s important to note that these are general estimates and that individual outcomes can vary. Factors such as the age and overall health of the patient, the response to treatment, and the presence of other medical conditions can all impact life expectancy in people with amyloidosis. It’s important for people with amyloidosis to work closely with their healthcare team to develop a treatment plan that is tailored to their individual needs and to monitor their condition regularly.