Question 1

What is Amyloidosis?

Accepted Answer

Amyloidosis is a rare disease characterized by abnormal accumulation of amyloid proteins in tissues and organs throughout the body. It is caused by misfolded proteins that clump together and deposit in vital organs, often involving abnormal immunoglobulin light chains produced by plasma cells. The Kappa/Lambda Light Chains, Free with Ratio and Reflex to Immunofixation test is the most important test for diagnosis because it detects the abnormal light chain ratio that indicates amyloid protein production.

Question 2

What causes amyloidosis?

Accepted Answer

Amyloidosis is caused by misfolded proteins that clump together and form abnormal deposits called amyloid fibrils in organs and tissues. The most common type, AL amyloidosis, results from abnormal plasma cells in bone marrow producing excess immunoglobulin light chains (kappa or lambda chains) that misfold and accumulate. Other forms can be caused by hereditary genetic mutations affecting protein structure, chronic inflammatory diseases triggering sustained production of serum amyloid A protein, or age-related factors leading to transthyretin protein deposits. The abnormal protein buildup disrupts normal organ function and can affect the heart, kidneys, liver, nerves, and digestive system.

Question 3

What is the best test for amyloidosis?

Accepted Answer

The Kappa/Lambda Light Chains, Free with Ratio and Reflex to Immunofixation test is the most important blood test for amyloidosis because it directly measures the free light chains circulating in your blood and calculates their ratio. An abnormal kappa to lambda ratio indicates that one type of light chain is being overproduced, which is a hallmark sign of AL amyloidosis. This test also automatically performs immunofixation if abnormalities are detected, identifying the specific type of abnormal protein present. Additional valuable tests include Protein Electrophoresis, with Total Protein and Reflex to IFE, Serum which analyzes protein patterns to detect monoclonal proteins, and Immunofixation, Serum which identifies the exact type of abnormal protein causing the condition. These specialized protein tests help your doctor determine if amyloid proteins are present and guide further diagnostic steps.

Question 4

When should I get tested for amyloidosis?

Accepted Answer

You should get tested if you experience unexplained swelling in your legs and ankles, persistent fatigue and weakness, unexplained weight loss, shortness of breath, numbness or tingling in your hands and feet, or an enlarged tongue. Testing is also important if you have been diagnosed with multiple myeloma or other plasma cell disorders, have a family history of amyloidosis, experience irregular heartbeat or heart failure symptoms without a clear cause, or notice easy bruising or bleeding around the eyes. Early detection through blood testing is crucial because amyloid protein deposits can cause irreversible organ damage if left untreated, and identifying the specific type of amyloidosis helps determine the most effective treatment approach.

Question 5

What are the symptoms of amyloidosis?

Accepted Answer

Amyloidosis symptoms vary depending on which organs are affected by protein deposits. Common signs include severe fatigue, unintentional weight loss of 10 pounds or more, swelling in ankles and legs due to fluid retention, shortness of breath even with mild activity, and enlarged tongue that may show teeth indentations along the edges. You might also notice numbness, tingling, or pain in your hands and feet from nerve involvement, easy bruising especially around the eyes creating a raccoon-eye appearance, irregular heartbeat or chest pain, diarrhea or constipation, and difficulty swallowing. Some people develop carpal tunnel syndrome, hoarseness, skin changes including thickening or bruising, and foamy urine indicating kidney involvement. Because symptoms develop gradually and can mimic other conditions, many people experience symptoms for months before receiving an accurate diagnosis.

Question 6

Who is at risk for amyloidosis?

Accepted Answer

People over age 60 are at higher risk for amyloidosis, particularly men who develop AL amyloidosis more frequently than women. Your risk increases if you have multiple myeloma or other plasma cell disorders, chronic infections like tuberculosis or osteomyelitis, inflammatory diseases such as rheumatoid arthritis or inflammatory bowel disease, or are on long-term dialysis for kidney disease. Family history significantly raises your risk if blood relatives have hereditary amyloidosis caused by genetic mutations in transthyretin or other proteins. Certain ethnic backgrounds carry higher risk, with hereditary forms more common in people of African, Mediterranean, or Scandinavian descent. Additionally, having monoclonal gammopathy of undetermined significance (MGUS), a condition involving abnormal proteins in the blood, increases your likelihood of developing AL amyloidosis.

Question 7

What happens if amyloidosis is left untreated?

Accepted Answer

Untreated amyloidosis leads to progressive organ damage as amyloid protein deposits continue to accumulate and disrupt normal function. Heart involvement can progress to congestive heart failure, dangerous arrhythmias, and ultimately death from cardiac complications, which is the most common cause of mortality in AL amyloidosis. Kidney damage advances to end-stage renal disease requiring dialysis or kidney transplant. Nerve damage becomes permanent, causing severe neuropathy with chronic pain, loss of sensation, and difficulty with coordination and movement. The digestive system can develop severe malabsorption, chronic diarrhea, and dangerous bleeding. Liver involvement leads to enlargement and eventual liver failure. Without treatment, survival time for AL amyloidosis averages only 1-2 years from diagnosis, but early detection and appropriate therapy can significantly extend life expectancy and improve quality of life.

Question 8

Can amyloidosis be diagnosed with a blood test?

Accepted Answer

Blood tests play an essential role in detecting amyloidosis by identifying abnormal proteins that suggest amyloid deposits are forming in your body. The Kappa/Lambda Light Chains, Free with Ratio test measures light chain proteins and their ratio, with abnormal results strongly indicating AL amyloidosis. Protein electrophoresis and immunofixation tests detect monoclonal proteins characteristic of the disease. However, definitive diagnosis of amyloidosis requires a tissue biopsy showing actual amyloid deposits in organs or tissues, typically obtained from abdominal fat pad, bone marrow, or the affected organ itself. Special staining techniques on biopsy samples confirm amyloid presence and identify the specific protein type. Blood tests serve as crucial screening and monitoring tools that guide doctors to perform biopsy when results are abnormal, making them an indispensable first step in the diagnostic process.

Question 9

How is amyloidosis treated?

Accepted Answer

Amyloidosis treatment focuses on stopping the production of abnormal proteins and managing organ damage. For AL amyloidosis, chemotherapy combinations like bortezomib, cyclophosphamide, and dexamethasone target the abnormal plasma cells producing amyloid proteins, similar to multiple myeloma treatment. Autologous stem cell transplant may be an option for eligible patients to achieve deeper remission. Newer therapies include daratumumab, a monoclonal antibody that destroys plasma cells. Hereditary amyloidosis may be treated with liver transplant to remove the source of mutant protein production, or medications like tafamidis and patisiran that stabilize or reduce abnormal protein production. Supportive care addresses organ-specific complications with diuretics for heart failure, dialysis for kidney failure, and nutritional support for digestive symptoms. Regular monitoring with blood tests tracks treatment response and disease progression.

Question 10

How can I prevent amyloidosis?

Accepted Answer

Most forms of amyloidosis cannot be prevented because they result from spontaneous plasma cell disorders or inherited genetic mutations beyond your control. However, you can reduce your risk of secondary amyloidosis by properly managing chronic inflammatory conditions like rheumatoid arthritis and inflammatory bowel disease with appropriate medical treatment to minimize sustained inflammation. If you have a family history of hereditary amyloidosis, genetic counseling and testing can identify if you carry the mutation, allowing for early monitoring and potential preventive treatment before symptoms develop. People with MGUS or multiple myeloma should maintain regular follow-up with their hematologist to detect progression to AL amyloidosis early. Avoiding kidney damage by controlling diabetes and high blood pressure reduces the need for long-term dialysis, which lowers risk of dialysis-related amyloidosis. While prevention is limited, early detection through awareness of symptoms and appropriate blood testing leads to earlier intervention and better outcomes.

Question 11

What can I do at home for amyloidosis?

Accepted Answer

While medical treatment is essential for amyloidosis, several home strategies help manage symptoms and support overall health. Follow a heart-healthy, low-sodium diet to reduce fluid retention and ease the burden on your heart and kidneys, limiting salt to less than 2,000 mg daily. Stay well-hydrated unless your doctor restricts fluids due to kidney or heart problems. Eat smaller, more frequent meals if you experience digestive symptoms, choosing easily digestible foods and avoiding fatty or spicy foods that worsen nausea. Elevate your legs when sitting to reduce ankle and leg swelling. Gentle exercise like walking or swimming maintains muscle strength and improves circulation, but avoid overexertion and stop if you feel chest pain or severe shortness of breath. Protect areas with numbness from injury by wearing well-fitting shoes and checking your feet daily. Get adequate rest and pace your activities throughout the day to manage fatigue. Monitor your weight daily and report sudden gains to your doctor as this may indicate fluid retention.

Question 12

How’s this work?

Accepted Answer

Getting your blood test with us is easy, private & backed by the power of science.Long story short:
            
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Question 13

How do I know which test to get?

Accepted Answer

In the test options, find the test you want.
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Question 14

When will my lab results be available?

Accepted Answer

Most test results will be available within 1–3 business days. Once they're ready, we'll send an email and text message to let you know.
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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

Absolutely! We totally understand that errors can happen. No worries, we're here to help you.
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            Our lab requires an address to be listed to generate an order.

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

Yes.
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Question 18

How can I find a lab location near me?

Accepted Answer

During the ordering process, you’ll be able to select a specific lab near you, with no strings attached!
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Amyloidosis Blood Test

What is Amyloidosis?

What causes amyloidosis?

What is the best test for amyloidosis?

When should I get tested for amyloidosis?

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