Amyloidosis is a rare disorder that happens when proteins in your body change or mutate, becoming twisted clumps of misshapen proteins that gather on your organs and tissues. It can be widespread (systemic) or localized to one area. When it does, it affects their shape and how they work. Amyloidosis is a serious health problem that can lead to life-threatening organ failure.
You may not experience it’s symptoms until later in the course of the disease. Symptoms may vary, depending on which organs are affected.
Signs and symptoms may include –
• Shortness of breath
• Numbness, tingling, or pain in the hands or feet
• Swelling of the ankles and legs
• Diarrhea, possibly with blood, or constipation
• An enlarged tongue, which sometimes looks rippled around its edge
• Skin changes, such as thickening or easy bruising, and purplish patches around the eyes
• AL amyloidosis (immunoglobulin light chain amyloidosis). This is the most common type of amyloidosis in developed countries. AL amyloidosis is also called primary amyloidosis. It usually affects the heart, kidneys, liver and nerves.
• AA amyloidosis. This type is also known as secondary amyloidosis. It’s usually triggered by an inflammatory disease, such as rheumatoid arthritis. It most commonly affects the kidneys, liver and spleen.
• Hereditary amyloidosis (familial amyloidosis). This inherited disorder often affects the nerves, heart and kidneys. It most commonly happens when a protein made by your liver is abnormal. This protein is called transthyretin (TTR).
• Wild-type amyloidosis. This variety has also been called senile systemic amyloidosis. It occurs when the TTR protein made by the liver is normal but produces amyloid for unknown reasons. Wild-type amyloidosis tends to affect men over age 70 and often targets the heart. It can also cause carpal tunnel syndrome.
• Localized amyloidosis. This type of amyloidosis often has a better prognosis than the varieties that affect multiple organ systems. Typical sites for localized amyloidosis include the bladder, skin, throat or lungs. Correct diagnosis is important so that treatments that affect the entire body can be avoided
Amyloidosis happens when proteins in your body change, becoming clumps of misshaped proteins that land on specific organs and tissues. Researchers have identified more than 30 different amyloid proteins.
Sometimes, it happens because you have an underlying condition that may be linked to an amyloidosis type. For example, between 12% and 15% of people who develop AL also have the blood disorder called multiple myeloma.
Multiple myeloma happens when abnormal plasma cells develop in your bone marrow and multiply uncontrollably.
Risk factors –
• Age. Most people diagnosed with this condition are between ages 60 and 70.
• Sex. It occurs more commonly in men.
• Other diseases. Having a chronic infectious or inflammatory disease increases the risk of AA amyloidosis.
• Family history. Some types are hereditary.
• Kidney dialysis. Dialysis can’t always remove large proteins from the blood. If you’re on dialysis, abnormal proteins can build up in your blood and eventually be deposited in tissue. This condition is less common with more modern dialysis techniques.
• Race. People of African descent appear to be at higher risk of carrying a genetic mutation associated with a type of amyloidosis that can harm the heart.
It can seriously damage the –
• Heart. Amyloid reduces the heart’s ability to fill with blood between heartbeats. Less blood is pumped with each beat. This can cause shortness of breath. If it affects the heart’s electrical system, it can cause heart rhythm problems. Amyloid-related heart problems can become life-threatening.
• Kidneys. Amyloid can harm the kidneys’ filtering system. This affects their ability to remove waste products from the body. It can eventually cause kidney failure.
• Nervous system. Nerve damage can cause pain, numbness, or tingling of the fingers and feet. If amyloid affects the nerves that control bowel function, it can cause periods of alternating constipation and diarrhea. Damage to the nerves that control blood pressure
Healthcare providers may do several different tests, but ultimately, they use bone marrow aspiration and bone marrow biopsy to identify the mutated protein causing specific amyloidosis types, including –
• Blood tests: Providers may test for abnormal protein levels in your blood.
• Urine tests: Providers may test your urine for abnormal protein levels.
• Computed tomography (CT) scan: Providers may use this imaging test that providers may use to check damage to affected organs.
• Echocardiogram: This test checks your heart condition.
Amyloidosis isn’t curable. Treatment aims to slow amyloid protein production and reduce symptoms.
▪︎ General treatments
These medications can be used to help control its symptoms:
• pain relievers
• drugs to manage diarrhea, nausea, and vomiting
• diuretics to reduce fluid buildup in your body
• blood thinners to prevent blood clots
• medications to control your heart rate
Other treatments are based on the type of amyloidosis you have.
▪︎ AL amyloidosis
This type is treated with chemotherapy. These drugs are usually used to treat cancer, but in this condition, they destroy the abnormal blood cells that produce amyloid protein.
After you have chemotherapy, you might have a stem cell or bone marrow transplant to replace the damaged bone marrow cells.
▪︎ AA amyloidosis
This type is treated based on the cause. Bacterial infections are treated with antibiotics. Inflammatory conditions are treated with medications to bring down inflammation.
▪︎ Beta-2 microglobulin amyloidosis
You can treat this type by changing the type of dialysis you get. Another option is to have a kidney transplant.
▪︎ ATTR amyloidosis
Because the abnormal protein that causes this type is made in your liver, you may need a liver transplant.
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