Amyloidosis Symptoms & Treatment

There are five predominant types of amyloidosis:

• Systemic (AL) amyloidosis – caused by an abnormal antibody protein (called AL) that is  produced in the bone marrow and can be deposited in many organs including the heart, kidneys, nerves and gastrointestinal tract.
• TTR amyloidosis – caused by an abnormal form of a protein called transthyretin that is produced in the liver and most commonly deposited in the heart and nerves. TTR can be hereditary or nonhereditary. Hereditary TTR amyloidosis is caused by one of over 130 known genetic mutations, all of which have a 50% chance of being passed to a child. Nonhereditary TTR amyloidosis occurs for unknown reasons with advanced age. 
• Serum amyloid protein A (AA) amyloidosis – associated with chronic inflammatory diseases
• Dialysis-related amyloidosis – associated with chronic kidney disease and long-term kidney dialysis
• Organ specific amyloidosis – occurs when amyloid buildup is isolated to a single organ but can be caused by one of several different types of amyloids

While some symptoms are specific to the organ affected by the disease, general symptoms of amyloidosis include:

• Carpal tunnel syndrome (especially when in both wrists)
• Constipation and/or diarrhea
• Dizziness and low blood pressure when standing (orthostatic hypotension)
• Enlarged tongue (particularly in AL)
• Irregular heartbeat
• Numbness/tingling or pain in the hands, wrists or feet
• Inability to feel the difference between warm or cold in hands and feet
• Pain or cramping in legs when standing or walking that dissipates when sitting down or bending forward (spinal stenosis)
• Purple patches around the eyes (commonly referred to as “raccoon eyes”) (particularly in AL)
• Rupture of the bicep tendon
• Weight loss

Amyloidosis in the heart, also called, cardiac amyloidosis, can cause symptoms such as:

• Arrhythmia (abnormal beating of the heart) or palpitations
• Fatigue
• Shortness of breath after physical exertion (or even at rest in later stages)
• Swelling of the legs or abdomen
• Passing out

Amyloidosis in the kidney can cause nephrotic syndrome — in which your body excretes too much protein in the urine — causing symptoms such as:

• Swelling in legs and around the eyes
• “Foamy” urine
• Weight gain
• Fatigue

Amyloidosis in the nervous system can cause symptoms such as:

• Peripheral neuropathy with loss of sensation and muscle function
• Tingling, numbness, and loss of temperature sensation in hands and feet
• Orthostatic hypotension (or dizziness) and low blood pressure when standing
• Diarrhea and constipation

Since amyloidosis can ultimately lead to organ damage, early diagnosis can reduce the extent of organ damage that occurs and may prevent the need for an organ transplant.

Tests used to diagnose amyloidosis include:

• Biopsy of the affected organ
• Blood tests
• Bone marrow aspiration and biopsy
• Imaging tests

For TTR amyloidosis, the diagnosis can often be made using noninvasive imaging coupled with genetic testing of blood or saliva, but sometimes will require cardiac biopsy.

Treatment for amyloidosis depends on the type of amyloidosis.

For patients with systemic (AL) amyloidosis, treatment targets the bone marrow production of the AL proteins that turn into amyloid fibrils, including certain types of chemotherapies. Sometimes, a bone marrow transplant is recommended to decrease the risk of disease recurrence.

For TTR amyloidosis, new treatment options that improve symptoms and outcomes have been recently approved. In addition, Houston Methodist has ongoing trials of new drugs that may have an additional benefit over and above the existing drugs.

For patients with cardiac symptoms, general treatment includes diuretics to prevent fluid buildup. Sometimes, blood thinners and other medications are recommended as well.

If an individual’s condition worsens to the point of organ failure, an organ transplant may be needed. Common types of transplants needed as a result of amyloidosis include:

• Bone marrow transplant
• Heart transplant
• Kidney transplant
• Liver transplant
• Multi-organ transplant (heart-liver or heart-kidney transplant may be needed in some cases of cardiac amyloidosis)