Amyloidosis

You may not experience signs and symptoms of amyloidosis until the condition is advanced. When signs and symptoms are evident, they depend on which of your organs are affected.

Signs and symptoms of amyloidosis may include:

• Swelling of your ankles and legs
• Severe fatigue and weakness
• Shortness of breath with minimal exertion
• Unable to lie flat in bed due to shortness of breath
• Numbness, tingling or pain in your hands or feet, especially pain in your wrist (carpal tunnel syndrome)
• Diarrhea, possibly with blood, or constipation
• Unintentional weight loss of more than 10 pounds (4.5 kilograms)
• An enlarged tongue, which sometimes looks rippled around its edge
• Skin changes, such as thickening or easy bruising, and purplish patches around the eyes
• An irregular heartbeat
• Difficulty swallowing

Factors that increase your risk of amyloidosis include:

• Age. Most people diagnosed with amyloidosis are between ages 60 and 70, although earlier onset occurs.
• Sex. Amyloidosis occurs more commonly in men.
• Other diseases. Chronic infectious or inflammatory disease increases your risk of amyloidosis.
• Family history. Some types of amyloidosis 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.

To confirm a diagnosis of cardiac amyloidosis, you will need either a cardiac biopsy or technetium pyrophosphate scan.

• A cardiac biopsy involves taking a small sample of heart tissue that the doctor examines under the microscope.
• A technetium pyrophosphate scan is similar to an MRI in that it gives a picture of the heart. A dye is injected before the scan and will cause potential amyloidosis to “light up.” If either test indicates amyloidosis, genetic testing is recommended to confirm the subtype.

Other tests that might be recommended:

• Electrocardiogram (ECG)- looks for abnormal patterns in the electricity of the heart
• Echocardiogram- ultrasound to evaluate heart structure and function, the heart muscle can appear abnormal and thickened in cardiac amyloidosis
• Blood work & Urinalysis to help screen for it, as well as to rule out other abnormal protein states. 

Cardiac amyloidosis is a serious condition that requires a multidisciplinary approach. Though the condition cannot be reversed, treatment may be able to slow the progression of the amyloid deposits and address damage to the heart.

Treatment depends on the subtype (ATTR or AL):

• ATTR- medication called tafamidis, which may reduce amyloid protein from depositing into the heart's muscle.
• AL- chemotherapy and/or auto stem cell transplant.