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Amyloidosis

An amyloidosis occurs when your organs and tissues accumulate abnormal proteins called amyloids. In this blog post, we will discuss how to prevent, recognize, and treat amyloidosis, which is a condition that can interfere with the normal function of your organs and cause a variety of symptoms and complications. Amyloidosis affects anyone, but is more common among older adults and men.

Causes of Amyloidosis

The type of amyloidosis depends on the location and source of the amyloid proteins.

  • Primary amyloidosis (AL): This type occurs when your bone marrow produces abnormal antibodies that form amyloid deposits in your organs. It is usually associated with a blood cancer called multiple myeloma.

  • Secondary amyloidosis (AA): This type occurs when your liver produces abnormal proteins that form amyloid deposits in your organs. It is usually associated with chronic inflammatory conditions such as rheumatoid arthritis, Crohn’s disease, or tuberculosis.

  • Hereditary amyloidosis (ATTR): This type occurs when you inherit a gene mutation that causes your body to produce abnormal proteins that form amyloid deposits in your organs. It can affect different organs depending on the type of mutation.

  • Dialysis-related amyloidosis (DRA): This type occurs when your kidneys fail to filter out waste products from your blood and they accumulate in your joints and tendons as amyloid deposits. It is usually associated with long-term dialysis treatment.

Amyloidosis is thought to be caused by a complex interaction between genetic, environmental, and lifestyle factors, including:

  • Genetics: You may inherit genes that increase or decrease your risk of developing amyloidosis or affect how your body produces or breaks down proteins.

  • Environment: You may be exposed to toxins or infections that affect your immune system or organ function.

  • Lifestyle: You may have habits or behaviors that affect your protein metabolism or organ health. For example, smoking, drinking alcohol, eating unhealthy food, or being physically inactive can increase your risk of amyloidosis.

Symptoms of Amyloidosis

Amyloidosis symptoms vary depending on the severity of the condition and the organs affected. The most common organs affected by amyloidosis include the heart, kidneys, liver, nerves, and skin.

  • Fatigue and weakness

  • Shortness of breath and chest pain

  • Swelling in the legs, ankles, or abdomen

  • Weight loss and loss of appetite

  • Numbness or tingling in the hands or feet

  • Skin changes such as bruising, thickening, or purplish patches

  • Diarrhea or constipation

  • Difficulty swallowing or speaking

  • Enlarged tongue or glands

  • Irregular heartbeat or low blood pressure

Some people with amyloidosis may not have any symptoms or only mild discomfort.

Diagnosis of Amyloidosis

A doctor will examine you for any signs of organ damage or dysfunction, as well as ask about your medical history, family history, and possible risk factors for amyloidosis.

You may also undergo some tests to confirm the diagnosis or rule out other possible causes of your symptoms. These tests include:

  • Blood tests: These can measure the levels of proteins, antibodies, enzymes, or markers of inflammation in your blood. They can also detect any problems in your blood cells, blood sugar, blood clotting, or kidney function.

  • Urine tests: These can measure the levels of proteins or waste products in your urine. They can also detect any signs of infection or kidney damage.

  • Biopsy: This is a procedure where a small sample of tissue is taken from an affected organ and examined under a microscope. It can show if there are any amyloid deposits in the tissue.

  • Imaging tests: These can take pictures of your organs using techniques such as X-ray, ultrasound, CT scan (computed tomography), MRI scan (magnetic resonance imaging), PET scan (positron emission tomography), or echocardiogram (ultrasound of the heart). They can show any changes in the size, shape, or function of your organs due to amyloidosis.

Treatment of Amyloidosis

Currently, there is no cure for amyloidosis, but there are treatments that can help slow down its progression and improve the quality of life for patients and their caregivers.

  • Medications: These are drugs that can help reduce the production or accumulation of amyloid proteins in your body or treat the symptoms or complications of amyloidosis. Some of the common medications for amyloidosis are:

    • Chemotherapy: These are drugs that kill or stop the growth of abnormal cells that produce amyloid proteins. They can help with primary or hereditary amyloidosis. Examples of chemotherapy drugs are melphalan (Alkeran), cyclophosphamide (Cytoxan), or bortezomib (Velcade).

    • Anti-inflammatory drugs: These are drugs that reduce inflammation and pain in your body. They can help with secondary or dialysis-related amyloidosis. Examples of anti-inflammatory drugs are nonsteroidal anti-inflammatory drugs (NSAIDs) such as ibuprofen (Advil, Motrin) or naproxen (Aleve), or corticosteroids such as prednisone or methylprednisolone.

    • Diuretics: These are drugs that increase the amount of urine and fluid that you pass out of your body. They can help with swelling, high blood pressure, or heart failure caused by amyloidosis. Examples of diuretics are furosemide (Lasix), spironolactone (Aldactone), or hydrochlorothiazide (Microzide).

    • Anticoagulants: These are drugs that prevent blood clots from forming in your blood vessels. They can help with stroke, heart attack, or pulmonary embolism caused by amyloidosis. Examples of anticoagulants are warfarin (Coumadin), heparin, or dabigatran (Pradaxa).

  • Transplantation: This is a procedure that involves replacing an affected organ with a healthy one from a donor. It can provide a permanent solution for organ failure caused by amyloidosis, but it is risky and may require lifelong medication to prevent rejection. It is also not suitable for everyone, as you need to have a compatible donor and a stable condition. The most common organs transplanted for amyloidosis are the kidney, liver, or heart.

  • Supportive care: This involves providing comfort, relief, and assistance to the patients and their caregivers. It can help improve the quality of life and well-being of the patients and their caregivers. Examples of supportive care are pain management, nutritional support, physical therapy, occupational therapy, speech therapy, psychological counseling, social work, hospice care, or palliative care.

Prevention of Amyloidosis

As amyloidosis is an unpredictable and rare condition, there is no way to prevent it. However, you can reduce your risk of developing it or delay its onset by doing the following:

  • Do not expose yourself to toxins or infections that can affect your immune system or organs.

  • For conditions such as multiple myeloma, rheumatoid arthritis, or tuberculosis that may cause or worsen amyloidosis, follow your doctor's advice and treatment plan.

  • Ensure your body receives essential nutrients for protein metabolism and organ health by maintaining a healthy lifestyle and taking supplements when necessary.

  • If you notice any signs or symptoms of amyloidosis, seek medical attention immediately.

The condition amyloidosis occurs when abnormal proteins called amyloids accumulate in your organs and tissues. Almost anyone can be affected by amyloidosis, but older adults and men are more likely to be affected. You can protect yourself and others from its harmful effects by knowing the causes, symptoms, diagnosis, treatment, and prevention of amyloidosis.

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