Question 1

What is Cardiac Amyloidosis?

Accepted Answer

Cardiac amyloidosis is a rare disorder where abnormal proteins called amyloid deposit in heart tissue, making it difficult for the heart to pump effectively. It is caused by misfolded proteins that accumulate in the heart muscle, stiffening the heart walls and disrupting normal cardiac function. The B-Type Natriuretic Peptide (BNP) test is the most important blood test for assessing cardiac function in amyloidosis because it measures heart stress levels.

Question 2

What causes cardiac amyloidosis?

Accepted Answer

Cardiac amyloidosis is caused by abnormal proteins that misfold and deposit as amyloid fibrils in the heart tissue. The two most common types are AL amyloidosis, caused by abnormal light chain proteins produced by bone marrow cells, and ATTR amyloidosis, caused by misfolded transthyretin protein produced by the liver. These protein deposits accumulate in the heart walls, making them thick and stiff, which prevents the heart from filling properly with blood and pumping efficiently. Over time, these deposits interfere with the heart's electrical system and can lead to heart failure and irregular heartbeats.

Question 3

What is the best test for cardiac amyloidosis?

Accepted Answer

The B-Type Natriuretic Peptide (BNP) test is the most important blood test for cardiac amyloidosis because it measures levels of BNP hormone released when the heart is under stress or working harder than normal. In cardiac amyloidosis, BNP levels are often significantly elevated due to the stiffening of heart walls from protein deposits, which makes the heart strain to pump blood effectively. While BNP testing alone cannot diagnose cardiac amyloidosis, it is essential for assessing heart function severity and monitoring disease progression. Definitive diagnosis typically requires specialized cardiac imaging like echocardiogram or cardiac MRI, tissue biopsy to identify amyloid deposits, and blood or urine tests to determine the specific type of amyloid protein involved.

Question 4

When should I get tested for cardiac amyloidosis?

Accepted Answer

You should get tested if you experience unexplained shortness of breath, especially during physical activity or when lying flat, persistent fatigue and weakness that limits your daily activities, swelling in your ankles and legs that worsens throughout the day, or irregular heartbeats and dizziness. Testing is particularly important if you have a family history of amyloidosis, unexplained heart failure that does not respond well to standard treatments, or conditions like multiple myeloma that increase amyloidosis risk. Early detection through BNP testing can help identify heart stress before severe damage occurs and guide your doctor toward more definitive diagnostic tests.

Question 5

What are the symptoms of cardiac amyloidosis?

Accepted Answer

Cardiac amyloidosis symptoms include shortness of breath during normal activities or when lying down, extreme fatigue and weakness that interferes with daily life, swelling in the ankles, legs, and abdomen from fluid retention, irregular heartbeat or palpitations, and chest discomfort. Many people also experience lightheadedness, dizziness, or fainting spells due to blood pressure changes. The symptoms often develop gradually and may initially be mistaken for normal aging or other heart conditions, which is why the condition frequently goes undiagnosed until it progresses. Some patients also notice numbness or tingling in their hands and feet if the amyloid deposits affect nerves as well as the heart.

Question 6

Who is at risk for cardiac amyloidosis?

Accepted Answer

People over age 60 are at higher risk for cardiac amyloidosis, particularly men of African or Caribbean descent who have higher rates of hereditary ATTR amyloidosis. Those with plasma cell disorders like multiple myeloma or other blood cancers have increased risk of developing AL amyloidosis. Family history of amyloidosis significantly raises your risk, especially for hereditary ATTR forms that run in families. Other risk factors include chronic inflammatory diseases, long-term dialysis patients, and individuals with carpal tunnel syndrome or spinal stenosis that occurs without clear cause, as these may be early signs of systemic amyloidosis. People with unexplained heart failure, especially heart failure with preserved ejection fraction, should be evaluated for possible cardiac amyloidosis.

Question 7

What happens if cardiac amyloidosis is left untreated?

Accepted Answer

Untreated cardiac amyloidosis leads to progressive heart failure as the amyloid protein deposits continue to stiffen and thicken the heart walls, making it increasingly difficult for the heart to pump blood effectively. The condition causes life-threatening arrhythmias or irregular heartbeats that can result in sudden cardiac death. As the disease advances, fluid accumulates in the lungs, abdomen, and legs, severely limiting physical activity and quality of life. The median survival for untreated AL cardiac amyloidosis is only 6 months after diagnosis, while ATTR cardiac amyloidosis typically progresses more slowly but still leads to severe disability and early death. Early detection through blood tests like BNP and prompt treatment can significantly slow disease progression and improve survival outcomes.

Question 8

Can cardiac amyloidosis be diagnosed with a blood test?

Accepted Answer

Cardiac amyloidosis cannot be definitively diagnosed with a blood test alone, but blood tests play a crucial role in the diagnostic process. The BNP blood test detects elevated levels of heart stress hormones that indicate the heart is struggling to function, which prompts further investigation. Blood and urine tests can identify abnormal light chain proteins in AL amyloidosis or genetic markers for hereditary ATTR amyloidosis. Definitive diagnosis requires specialized imaging tests like echocardiogram, cardiac MRI, or nuclear imaging scans that reveal characteristic patterns of amyloid deposits in the heart. In many cases, a tissue biopsy from the heart, fat pad, or other organs is necessary to confirm amyloid deposits and identify the specific protein type, which is essential for determining the most effective treatment approach.

Question 9

How is cardiac amyloidosis treated?

Accepted Answer

Treatment for cardiac amyloidosis depends on the type of amyloid protein involved. AL amyloidosis is treated with chemotherapy and stem cell transplantation to stop the production of abnormal light chain proteins by targeting the underlying bone marrow disorder. ATTR amyloidosis treatment includes medications like tafamidis that stabilize the transthyretin protein and prevent it from misfolding, as well as newer drugs that silence the gene responsible for producing the abnormal protein. Heart failure symptoms are managed with diuretics to reduce fluid retention, medications to control heart rate and rhythm, and in some cases, pacemakers or implantable defibrillators. Liver transplantation may be considered for hereditary ATTR amyloidosis since the liver produces the abnormal protein, and in select cases, heart transplantation may be an option for end-stage cardiac amyloidosis.

Question 10

How can I prevent cardiac amyloidosis?

Accepted Answer

Hereditary forms of cardiac amyloidosis cannot be prevented, but genetic counseling and testing can identify at-risk family members before symptoms develop, allowing for earlier monitoring and intervention. For AL amyloidosis, maintaining regular health checkups can help detect blood cell disorders early before they lead to amyloid formation. If you have a family history of amyloidosis, regular cardiac screening and BNP testing can catch heart involvement in the earliest stages when treatment is most effective. Managing underlying conditions like multiple myeloma or other plasma cell disorders promptly can reduce the risk of developing AL amyloidosis. While you cannot prevent the genetic mutations that cause hereditary amyloidosis, staying informed about your family medical history and seeking early medical evaluation for unexplained heart symptoms or neuropathy can lead to earlier diagnosis and better outcomes.

Question 11

What can I do at home for cardiac amyloidosis?

Accepted Answer

Managing cardiac amyloidosis at home involves following a low-sodium diet to reduce fluid retention and minimize swelling in your legs and abdomen. Monitor your weight daily and report sudden gains of more than 2-3 pounds in a day to your doctor, as this indicates fluid accumulation. Pace your activities and rest frequently to avoid overworking your heart, and elevate your legs when sitting to reduce swelling. Stay well-hydrated but follow your doctor's fluid restrictions if prescribed, and avoid alcohol which can further stress the heart. Work closely with your healthcare team to take all medications exactly as prescribed, including diuretics and heart medications, and attend regular follow-up appointments for BNP monitoring to track how well your heart is functioning. Gentle activities like short walks can help maintain circulation, but avoid strenuous exercise that puts excessive strain on your heart.

Question 12

How’s this work?

Accepted Answer

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Question 13

How do I know which test to get?

Accepted Answer

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Question 14

When will my lab results be available?

Accepted Answer

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Question 15

Is it possible to make changes to my lab order if I made a mistake with the name, date of birth, or any other details?

Accepted Answer

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Question 16

Do you accept health insurance?

Accepted Answer

Only HSA & FSA is accepted.
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Question 17

Can I cancel my order?

Accepted Answer

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Question 18

How can I find a lab location near me?

Accepted Answer

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Cardiac Amyloidosis Blood Test

What is Cardiac Amyloidosis?

What causes cardiac amyloidosis?

What is the best test for cardiac amyloidosis?

When should I get tested for cardiac amyloidosis?

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