التشخيص

AL amyloidosis can be hard to diagnose. Its early symptoms can be a lot like those of more-common conditions.

To diagnose AL amyloidosis, a healthcare professional examines you. You usually are asked about your symptoms. You also may be asked about your health history and your family's health history. But unlike other types of amyloidosis, AL amyloidosis does not run in families.

Your healthcare professional orders tests to look for causes of your symptoms.

Blood and urine tests

Some blood and urine tests can help find signs of AL amyloidosis. Results from some of the tests help your healthcare team learn how much organ damage you have. But no single blood or urine test alone can confirm a diagnosis of AL amyloidosis.

Blood and urine tests may include:

  • N-terminal pro-B-type natriuretic peptide (NT-proBNP). The heart releases this substance into the bloodstream when it's under increased strain or pressure. High levels may be a sign that AL amyloidosis has affected the heart. Changes in the NT-proBNP level also help show how amyloidosis treatment is working. If NT-proBNP testing is not available, you may have a regular BNP test.
  • Troponin T or troponin I. Troponin is a protein found in heart muscle. Higher levels of the protein may mean you have heart damage. Your troponin level helps your healthcare team know how much AL amyloidosis affects your heart.
  • Estimated glomerular filtration rate (eGFR). This test shows how well the kidneys are working. It checks the level of a waste product made by muscles, called creatinine, along with other information. In amyloidosis, eGFR may go down if the kidneys are not working well.
  • Urine protein study. This test checks how much protein leaves the body through urine. A high level may be a sign of kidney damage caused by amyloid deposits.
  • Immunoglobulin free light chains. This blood test measures both kappa and lambda free light chains and compares their levels. The difference between them is called the difference in free light chains (dFLC). This result can help show how active AL amyloidosis is and how well treatment is working.
  • Electrophoresis and immunofixation. These tests check blood and urine for a protein called a monoclonal protein (M protein). Finding an M protein can suggest a plasma cell disorder. But more testing is needed to confirm the diagnosis.

Imaging tests

Imaging tests alone cannot diagnose AL amyloidosis. But you may have imaging tests if your healthcare team thinks the condition affects your heart. These tests may include:

  • Echocardiogram. This is one of the first tests done to see whether AL amyloidosis affects the heart. Sound waves make pictures of the beating heart. The test shows the thickness of the heart walls and how well the heart squeezes and pumps blood. It also can show patterns in the heart that suggest amyloid buildup.
  • Heart MRI, also called cardiac MRI. This test uses radio waves and a strong magnetic field to make clear pictures of the heart tissue. It shows the structure of the heart. It also can show patterns related to amyloid buildup. This test may be done if the images from an echocardiogram do not give enough information.

You may have other imaging tests depending on the part of your body affected by AL amyloidosis.

Biopsy

A biopsy is needed to confirm that a person has AL amyloidosis. During a biopsy, a healthcare professional removes a piece of body tissue. The sample is checked under a microscope.

Your healthcare team chooses the type of biopsy based on where the amyloid is most likely to be found in your body. Your care team talks with you about which test is right for you.

  • Abdominal fat pad aspirate or biopsy. This procedure looks for amyloid in a small piece of fat from under the skin of your belly.
  • Bone marrow aspiration and biopsy. This procedure removes samples of liquid and solid tissue from the bone marrow. The samples are checked for signs of plasma cells that make the light chains responsible for AL amyloidosis. A bone marrow biopsy also may show amyloid deposits.

Sometimes a biopsy does not find amyloid. If you had both types of biopsies and your healthcare team still thinks you may have AL amyloidosis, you might need a biopsy of areas such as the:

  • Heart.
  • Kidney.
  • Liver.
  • Digestive tract.
  • Nerves.

Your care team uses the results of all your tests to diagnose AL amyloidosis and plan your care.

العلاج

There's no cure for AL amyloidosis. Some damage caused by amyloid buildup may last even after treatment. But newer treatments can help slow or stop more amyloid from forming. This may help organs work better over time.

Your healthcare team works with you to create a treatment plan that fits your condition and symptoms. The goal of treatment is to quickly stop plasma cells from making harmful light chains. Other goals are to:

  • Manage symptoms.
  • Keep the condition from getting worse.
  • Lower the risk of complications.

Treatment often starts with medicines. Medicines can help slow the disease and ease your symptoms. The types of medicines you need may change over time.

Medicines

If you have AL amyloidosis, you usually get medicines to stop certain blood cells from making harmful light chains. Lowering the amount of harmful light chains slows or stops new amyloid from forming.

These medicines are often given together for people newly diagnosed with AL amyloidosis:

  • Daratumumab-hyaluronidase (Darzalex Faspro).
  • Bortezomib (Velcade).
  • Cyclophosphamide (Cytoxan).
  • Dexamethasone.

The combination of these treatments may be called Dara-CyBorD or Dara-VCd.

Not everyone receives all four medicines. The medicines you receive depend on several things, including:

  • The part of the body affected.
  • How severe your condition is.
  • Whether you have other health conditions.
  • How well your care team expects you to tolerate treatment.

Your healthcare team may start with a few medicines and change the doses as needed. If the first treatment stops working or does not work well enough, your healthcare team may use other medicines.

Your healthcare professional also may give you medicines to treat your symptoms and to prevent complications. For example, you may get medicines to treat irregular heartbeats.

Some medicines commonly used for heart failure or high blood pressure may not work well for people with amyloidosis. They also may cause blood pressure to drop too low. Your healthcare team chooses and adjusts these medicines carefully.

Surgery or other procedures

Some carefully selected people with AL amyloidosis may need an autologous blood stem cell transplant.

Stem cells are very young cells that help make blood cells. Autologous means that the stem cells come from your own body. An autologous blood stem cell transplant can be physically demanding. Your healthcare team looks at your heart, kidneys, other organs and overall health before deciding whether it is right for you.

Before the transplant, you get medicines that help your body make more stem cells for your blood. A healthcare professional then places a needle into a vein in your arm and removes some blood. The blood goes through a machine that collects the stem cells. The collected stem cells are frozen and saved. The rest of the blood goes back into your body.

Next, you get high-dose chemotherapy medicines to kill many of the cells that make harmful light chains. This treatment also affects healthy cells in the bone marrow for a short time. To help your bone marrow recover, your stored stem cells are then returned to your body through a vein. The stem cells help your body make new blood cells.

Other treatments

Other treatments depend on the organs affected by amyloid.

Some people with AL amyloidosis that affects the heart or other parts of the body may need other treatments. For example, if the condition causes serious changes in your heartbeat, you may need a heart device such as a pacemaker.

If AL amyloidosis causes a lot of damage to your kidneys, you may need a treatment called dialysis.

Sometimes, AL amyloidosis causes heart or kidney failure that can't get better. If this happens, a heart transplant or kidney transplant may be needed.

Follow-up care

After treatment for AL amyloidosis, you need regular health checkups. These checkups may include tests to look at any affected organs. Test results can show your healthcare team how well treatment is working.

Care team

If you have AL amyloidosis, different healthcare professionals work together to treat your condition and support your care. You do not have to manage the condition on your own.

Your specific care team depends on your needs but may include:

  • Doctors who specialize in blood diseases, called hematologists.
  • Doctors trained in heart conditions, called cardiologists.
  • Doctors trained in kidney conditions, called nephrologists.
  • Doctors trained in nerve conditions, called neurologists.
  • Doctors trained in digestive system conditions, called gastroenterologists.
  • A primary care healthcare professional.

Prognosis

Prognosis means what may happen over time. It is an estimate of what will happen. But it doesn't say what exactly will happen It also means how well you may do after treatment. How well a person with AL amyloidosis does varies widely. It is different for each person.

AL amyloidosis is a serious condition that can be life-threatening, especially when there is a lot of heart damage. But newer treatments have improved the outlook for many people with AL amyloidosis. When treatment works well, it can stop the body from making harmful light chains. This can help prevent more organ damage and may help some organs work better.

AL amyloidosis often gets worse faster than other types of amyloidosis, such as wild-type ATTR amyloidosis.

In general, your prognosis for AL amyloidosis depends on:

  • Which organs are affected and how much damage there is. How much the heart is affected has the greatest effect on prognosis. The more AL amyloidosis has damaged the heart, the less well a person may do over time. But how well the kidneys and other organs do also matter.
  • The stage of the condition. In general, a higher stage means more-severe disease.
  • How early you start treatment. Starting effective treatment before a lot of organ damage happens is linked to better outcomes.
  • How well treatment works for you. In general, people tend to do better when treatment for AL amyloidosis quickly and effectively lowers the level of harmful light chains.

Your prognosis can change over time. After treatment begins, your healthcare team looks at changes in your light-chain levels. They also look at how your organs are working and your symptoms. This helps the team understand what your prognosis may be based on your own results.

نمط الحياة والعلاجات المنزلية

AL amyloidosis can make everyday activities harder because you may feel tired, weak or short of breath. These steps may help you manage symptoms and stay as active as you can.

  • Take your medicines as directed.
  • Go to your regular health checkups.
  • Do not smoke.
  • Follow your healthcare team's advice about salt and fluids.
  • Talk with your care team before making big changes to your diet or activities.
  • Stay active in ways your healthcare team says are safe.
  • Rest when you feel tired.

It also is important to manage emotional stress. Learning that you have AL amyloidosis may be hard. Some people find that talking about their concerns with others in similar situations can help. You might try to connect with friends or family or join a support group.

الاستعداد لموعدك

If you are worried about your risk of AL amyloidosis, make an appointment with your healthcare professional. You may be sent to a doctor trained in heart diseases or blood disorders. If AL amyloidosis is found early, treatment may work better.

Appointments can be brief. Because there's often a lot to talk about, it's a good idea to be prepared for your appointment. Here's some information to help you get ready.

What you can do

When you make your appointment, ask if you need to do anything ahead of time. For example, you may be told not to eat or drink for a while before some tests.

Other things you can do to prepare:

  • Write down your symptoms. Include those that may not seem related to amyloidosis.
  • Write down important personal information. Tell your healthcare team about any family history of amyloidosis. Knowing as much as you can about your family history can be helpful.
  • Make a list of all the medicines, vitamins and supplements that you take. Include the doses.
  • Ask someone to go with you to help you remember what your care team says.

Also write down questions to ask your healthcare team. For AL amyloidosis, some basic questions include:

  • What organs are affected?
  • What tests do I need?
  • What treatments do I need?
  • What types of side effects can I expect from treatment?
  • What are the possible complications?
  • How do I need to change my diet or activities?

Don't hesitate to ask other questions during your appointment.

What to expect from your doctor

Your healthcare team usually asks many questions, such as:

  • When did your symptoms start?
  • Do the symptoms come and go or do you have them all the time?
  • Does anything make your symptoms better or worse?
  • How is your appetite?
  • Have you recently lost weight without trying?
  • Have you had any swelling in your legs, feet or ankles?
  • Have you felt short of breath?
  • Are you able to work and do your usual daily tasks?
  • Has anyone in your family ever been diagnosed with amyloidosis?