overview
What is AL amyloidosis?
AL amyloidosis (amyloid light chain or primary amyloidosis) is a type of amyloidosis. Amyloidosis (am-uh-loy-doh-sis) is a rare disease that occurs when the plasma cells in the bone marrow change or mutate. These calls create abnormal proteins that become twisted clumps of misshapen protein that collect on your organs and tissues. In AL amyloidosis, the mutated proteins are light chain proteins. Light chain proteins are fragments of infection-fighting antibodies produced by plasma cells in the bone marrow. AL amyloidosis usually affects yourHeartand/or yourkidney, but it may affect yourStomach, intestines, nerves and skin. Healthcare providers can treat amyloidosis with chemotherapy and/or bone marrow or stem cell transplants. If diagnosed and treated early, AL amyloidosis can become a chronic disease. But if left untreated, it can lead to a life-threatening condition that can be fatal.
What does AL mean in amyloidosis?
There are several types of amyloidosis. Each type is named for the abnormal protein that causes the disease. In AL amyloidosis, the A stands for amyloidosis and the L stands for the light chain, the protein that mutates and causes the disease. Other common types of amyloidosis areserum amyloid A(AA amyloidosis) andATTR (transthyretin) amyloidosis.
How does AL amyloidosis affect my body?
AL amyloidosis is a disease of plasma cells. Plasma cells are part of the immune system. They make antibodies that fight infection. Each plasma cell divides repeatedly to produce new cells, or exact copies of a particular plasma cell. Your body produces thousands of different plasma cell clones, each of which produces specific antibodies designed to fight various infectious invaders. In plasma cell disorders, a single plasma cell proliferates uncontrollably, producing thousands of single antibodies.
In AL amyloidosis, plasma cells produce antibodies consisting of heavy and light protein chains, resulting in an excess of light protein chains. The light chains misfold and clump together to form amyloid fibrils, which end up in your organs, where they can cause severe and life-threatening damage.
Who is Affected by AL Amyloidosis?
Amyloidosis is a relatively rare disease, affecting an estimated 9 to 14 in 1 million people in the United States and 5 to 12 in 1 million worldwide. AL amyloidosis affects more men than women. It usually affects people 60 and older; 64 is the median age at diagnosis.
symptoms and causes
What are the symptoms of AL amyloidosis?
AL amyloidosis can affect many parts of the body, from the head and neck to the extremities and organs. Many times, AL amyloidosis symptoms resemble other, less severe diseases. They also develop slowly, which means you may not notice changes in your body right away.
Symptoms affecting the head and neck
If you have amyloidosis, you may experience the following symptoms:
- When you stand up, you feel dizzy.
- You develop a purple rash around your eyes or on your eyelids.
- Your tongue is larger than normal.
Symptoms affecting your arms and legs
You may experience the following symptoms in your arm:
- Numbness, burning, or tingling. These may be symptoms ofPeripheral neuropathy.
- Tingling and numbness in fingers. These may be symptoms ofcarpal tunnel syndrome.
Your feet and legs may experience the following symptoms:
- Swollen feet or legs.
- Legs are weak.
You may also notice that you bruise or bleed more easily than usual, or that your skin folds are purple.
symptoms that may be signs of heart and lung problems
The following symptoms may be a sign of other conditions:
- heart palpitations:This is a feeling that your heart is beating faster than usual.
- Shortness of breath (difficulty breathing):This may make you feel tight in your chest or unable to breathe deeply.
- chest pain:This is pain anywhere in the chest. The pain may be sharp or dull, and it may come and go. Chest pain can be a sign of a heart attack, so if your chest pain lasts five minutes or more and doesn't go away after you rest or take medication, call 911 or have someone take you to the emergency room.
- fatigue:It's a feeling of burnout, as if you're too tired to complete your daily activities.
Symptoms that may be signs of stomach or intestinal problems
AL amyloidosis can affect your eating habits and cause the following symptoms:
- no appetite:Everyone's appetite changes. However, if you lose your appetite for several days without reason, it could be a symptom of a bowel problem related to AL amyloidosis.
- bloating ortoo much gas:Bloating and gas are a very common, if embarrassing, fact of life. But gas accumulation may be a symptom of gastropathy associated with AL amyloidosis.
- constipate:Constipation is having fewer than 3 bowel movements per week. Constipation that lasts longer than three weeks is a problem you should discuss with your healthcare provider.
- diarrhea:This is watery poop. Talk to your provider if your diarrhea doesn't go away.
Symptoms that may be a sign of kidney or bladder problems
You may notice a change in the way you urinate or how often you need to urinate. These symptoms may include:
- More air bubbles in your pee than usual.
- Urinating less often than usual, or having to get up at night to urinate.
What causes AL amyloidosis?
AL amyloidosis occurs when plasma cells produce antibodies consisting of heavy and light protein chains, producing too many light protein chains. The light chains misfold and clump together, forming amyloid fibrils that end up in your organs.
Diagnosis and Testing
How Do Healthcare Providers Diagnose AL Amyloidosis?
A provider may do several different tests to diagnose AL amyloidosis, but the most useful test is to take a sample of one or more organs that are affected by it. Providers may perform biopsies of:
- bone marrow biopsy:The provider will perform a bone marrow biopsy to remove a small sample of bone marrow from inside the bone.
- kidney biopsy:The provider may do a kidney biopsy to remove some small pieces of tissue.
- heart biopsy:Your provider may perform a heart biopsy to remove small pieces of your heart muscle.
- Fat pad biopsy:The provider removes a small piece of fatty tissue from your abdomen.
additional test
Your provider may do other tests to see how well your organs are working. These tests may include:
- blood test:They will do these tests to check the amount of light chains in your kidneys, heart, liver, and blood.
- Urine test:This is usually a 24-hour urine collection test. You collect pee at home and take a sample to your provider. Your provider does this test to see if your kidneys are affected by amyloidosis.
- electrocardiogram(ECG): The ECG measures the electrical activity of the heart.
- Echocardiogram: This test is sometimes called a cardiac ultrasound because the provider uses high-frequency sound waves to measure your heart's movement.
- Cardiac MRI:A cardiac or cardiac MRI test shows detailed pictures of your heart.
Management and Treatment
How do healthcare providers treat AL amyloidosis?
Providers treat AL amyloidosis with drugs and other treatments to relieve your symptoms and address any organ damage. They also use treatments to slow or stop the process that causes your body to make too much amyloid.
Providers can usechemotherapy,Immunotherapyor steroids for AL amyloidosis. Most people take one or two chemotherapy drugs plus a steroid drug. These drugs work together to destroy the plasma cells that make the light chain protein.
It is important to remember that drugs can slow or stop AL amyloidosis from getting worse, but treatment will not remove fibrils that are already in the organ. After treatment begins, your own immune system can get rid of these abnormal proteins. The researchers are evaluating new monoclonal antibodies that may be able to remove the fibrils.
Your healthcare provider may also discuss with you whethermarroworstem celltransplant.
prevention
Can I prevent AL amyloidosis?
No, you cannot prevent AL amyloidosis or other forms of amyloidosis. AL amyloidosis occurs when a single plasma cell produces a clone that begins to proliferate uncontrollably.
outlook/prognosis
What is the life expectancy for AL amyloidosis?
Healthcare providers are helping people with AL amyloidosis live longer. For some people, AL amyloidosis is a long-term or chronic condition that providers can treat with medication. But it's a very serious disease that can lead to life-threatening medical conditions. AL amyloidosis is rare, which makes it difficult for providers to get enough information about the life expectancy of people with the disease. If you have AL amyloidosis, ask your healthcare provider about your prognosis or potential outcomes after treatment. Your provider is your best resource for expected information.
live with
How do I take care of myself?
If you have AL amyloidosis, your healthcare provider will focus on treating your symptoms and slowing or stopping the progression of the disease. You may need to continue medication with different side effects. One way to take care of yourself is to understand the side effects of treatment and ways to manage them. Here are some other suggestions:
- Some treatments can affect your appetite. If this is your situation, ask your provider about healthy eating habits so you can stay strong through treatment.
- Try to get enough rest.
- Exercise is a way to lift your spirits and maintain a healthy weight for you. Ask your provider to recommend exercises that don't put too much strain on your body.
- AL amyloidosis is a rare disease. You may feel alone or isolated because you have an illness that other people don't understand. Ask your provider to recommend support groups or programs for people with AL amyloidosis.
Note from the Cleveland Clinic
AL amyloidosis (amyloid light chain or primary amyloidosis) is a rare disease that occurs when abnormal light chain proteins in your body accumulate in your organs and tissues. This is a serious condition that can become chronic or can lead to life-threatening illness. Healthcare providers are finding new ways to help people with AL amyloidosis live longer. If you have AL amyloidosis, ask your provider about clinical trials and research focused on new ways to treat it.
FAQs
What is the life expectancy of someone with primary AL amyloidosis? ›
In untreated cases, the median survival from the time of diagnosis in cardiac amyloidosis is 6 months, making early diagnosis critical for good outcomes in cardiac disease.
What are the symptoms of primary amyloidosis? ›- Abnormal heart rhythm.
- Fatigue.
- Numbness of hands or feet.
- Shortness of breath.
- Skin changes.
- Swallowing problems.
- Swelling in the arms and legs.
- Swollen tongue.
- Chemotherapy. Some cancer drugs are used in AL amyloidosis to stop the growth of abnormal cells that produce the protein that forms amyloid.
- Heart medications. If your heart is affected, you may need to take blood thinners to reduce the risk of clots. ...
- Targeted therapies.
Cause of AL amyloidosis
AL amyloidosis is caused by an abnormality in certain cells found in the bone marrow, called plasma cells. The abnormal plasma cells produce abnormal forms of light chain proteins, which enter the bloodstream and can form amyloid deposits.
Heart complications are the most common cause of death in patients with amyloidosis. The degree to which amyloidosis affects the heart is important in determining your prognosis. These amyloid deposits are in the kidneys.
What foods should I avoid with amyloidosis? ›Avoid processed meals, salt shakers, spice blends, and soup bases that contain salt. 2. Limit Your Sugar Intake: Limit added sugar to 10% of your daily calorie intake and be wary of beverages such as soda, coffee with added syrups, and sugary juices.
Which organ is most affected by amyloidosis? ›It most commonly affects the kidneys, liver and spleen. Hereditary amyloidosis (familial amyloidosis). This inherited disorder often affects the nerves, heart and kidneys.
What foods are high in amyloid? ›People with AL amyloidosis who have neutropenia may need to avoid foods that are more likely to cause infection. Soft cheese, blue cheese, mayonnaise, raw eggs, and yogurt are foods that can contain higher levels of bacteria.
What is the first line treatment for amyloidosis? ›Bortezomib, dexamethasone, and cyclophosphamide (CyBorD)4,-6 or bortezomib, dexamethasone, and melphalan (BMDex)7 remain the most commonly used first-line treatments for patients with AL amyloidosis.
How do you stop amyloid build up? ›Get plenty of omega-3 fats. Evidence suggests that the DHA found in these healthy fats may help prevent Alzheimer's disease and dementia by reducing beta-amyloid plaques. Food sources include cold-water fish such as salmon, tuna, trout, mackerel, seaweed, and sardines. You can also supplement with fish oil.
Is amyloidosis a terminal illness? ›
Amyloidosis can affect the heart, kidneys, liver, spleen, nervous system, stomach or intestines. The condition is rare (affecting fewer than 4,000 people in the United States each year), but it can be fatal.
What age does AL amyloidosis start? ›Age. Most people diagnosed with AL amyloidosis, the most common type, are between ages 60 and 70, although earlier onset occurs.
Is AL amyloidosis always fatal? ›If diagnosed and treated early on, AL amyloidosis may become a chronic disease. But left untreated, it leads to life-threatening conditions that may be fatal.
What are the symptoms of amyloidosis at the end of life? ›However, similarly to patients with cancer, symptoms may be because of the disease process or the treatment, and can include fatigue, weakness, dyspnea, pain, dizziness, anorexia, cachexia, edema, diarrhea, and constipation.
Can a blood test detect amyloidosis? ›Tests for amyloidosis include: Blood or urine test to detect the amyloid proteins. Bone marrow test and/or biopsy (tissue sample) to check for amyloid deposits.
What are the stages of amyloidosis? ›Stage I encompasses those patients with no elevated risk factors, while stages II, III, and IV encompass those who have one, two, or three elevated risk factors, respectively.
What vitamins are good for amyloidosis? ›One animal study suggested that high doses of vitamin C may help the body break down amyloid and prevent amyloidosis from worsening.
What vitamin deficiency causes amyloidosis? ›Abstract. High homocysteine (Hcy) levels, mainly caused by vitamin B12 deficiency, have been reported to induce amyloid-β (Aβ) formation and tau hyperphosphorylation in mouse models of Alzheimer's disease.
Does stress cause amyloidosis? ›The evidence to date suggests that stress may increase brain levels of CRF, which in turn increases the levels of neuronal activity, Aβ release, and ultimately, amyloid aggregation into plaques.
Where is the best treatment for amyloidosis? ›In hereditary amyloid, liver transplantation has been the most effective therapy. The new liver does not produce the abnormal amyloid proteins and consequently the disease improves. Investigational drugs are also being evaluated to try and prevent this type of amyloid protein from depositing in organs.
Is there pain with amyloidosis? ›
Amyloidosis may cause the liver to grow larger and affect its ability to function normally. This may cause pain in the upper abdomen, swelling in the abdomen, and changes in liver enzymes that can be found using blood tests. Heart.
Does amyloidosis affect the eyes? ›Amyloidosis is a diverse, heterogeneous group of disorders characterized by the deposition of hyaline extracellular material into various tissues throughout the body including the eye and ocular adnexa. Ocular Amyloidosis has been reported in almost every part of the eye as well as adnexal and orbital tissues.
What does amyloidosis of the skin look like? ›Lichen amyloidosis is characterized by severely itchy patches of thickened skin with multiple small bumps. The patches are scaly and reddish brown in color. These patches usually occur on the shins but can also occur on the forearms, other parts of the legs, and elsewhere on the body.
What cancers cause amyloidosis? ›It may be associated with some forms of cancer (multiple myeloma, non-Hodgkin's Lymphoma). The exact cause of amyloidosis is not known. Light chain amyloidosis occurs by itself, or in association with blood and bone marrow cancers such as multiple myeloma or lymphoma.
What removes amyloid? ›Anti-amyloid antibodies work by alerting the immune system to the presence of amyloid plaques and directing a cleanup crew called microglia to clear out such debris.
Does exercise clear amyloid? ›Many studies indicate that continuous exercise is also associated with a decrease in amyloid deposits in the brain.
Is exercise good for amyloidosis? ›It is believed that exercise is beneficial for the general well-being of patients with amyloidosis. If there are amyloid deposits in the heart then exercise should usually be limited and light. It is important to be careful, and to exercise within limits, to avoid exhaustion.
What is the best predictor of survival in AL amyloidosis? ›More than half of the patients with AL amyloidosis (51–63%) demonstrate cardiac involvement on diagnosis [5, 6]. Cardiac involvement is the most important prognostic factor in the natural progression of AL amyloidosis that determines prognosis, limits life span [7] and contributes to approximately 75% of deaths [8].
When do you suspect AL amyloidosis? ›The most common clinical scenarios that should elicit suspicion for amyloidosis are non-diabetic nephrotic range proteinuria, cardiac failure with left ventricular hypertrophy in the absence of aortic stenosis or hypertension, peripheral or autonomic neuropathy without an obvious cause, chronic inflammatory ...
What is the 5 word memory test? ›Administration: The examiner reads a list of 5 words at a rate of one per second, giving the following instructions: “This is a memory test. I am going to read a list of words that you will have to remember now and later on. Listen carefully. When I am through, tell me as many words as you can remember.
What are the 3 foods that fight memory loss? ›
What are the foods that fight memory loss? Berries, fish, and leafy green vegetables are 3 of the best foods that fight memory loss. There's a mountain of evidence showing they support and protect brain health.
Can mold cause amyloidosis? ›Mold Causes Deposits of Amyloid Beta Proteins in Brain and Mitochondria.
Can you live for 20 years with amyloidosis? ›Your specific prognosis will vary depending on many factors, including how well the interventions to treat the condition work. But in general, those who have cardiac amyloidosis often now live for years after diagnosis.
Is amyloidosis a form of leukemia? ›Amyloidosis is a rare disorder. Although it is not a type of cancer, it may be associated with certain blood cancers like multiple myeloma.
Has anyone survived amyloidosis? ›Long-term survivors are increasingly seen in AL amyloidosis and present distinct patient, organ and clonal disease features.
How fast does amyloidosis spread? ›How long that takes depends on the patient and the affected organ. Typically, 12 to 18 months will pass before amyloid buildup in the heart becomes fatal, while a patient with an affected kidney could live for 5 to 10 years, according to Gertz.
How fast does AL amyloidosis progress? ›How long that takes depends on the patient and the affected organ. Typically, 12 to 18 months will pass before amyloid buildup in the heart becomes fatal, while a patient with an affected kidney could live for 5 to 10 years, according to Gertz.
What is the best predictor of long term survival in Al amyloid? ›More than half of the patients with AL amyloidosis (51–63%) demonstrate cardiac involvement on diagnosis [5, 6]. Cardiac involvement is the most important prognostic factor in the natural progression of AL amyloidosis that determines prognosis, limits life span [7] and contributes to approximately 75% of deaths [8].
What is the most important determinant of survival in patients with AL amyloidosis? ›Cardiac amyloid infiltration is the leading cause of death, accounting for >61% of fatalities and the primary determinant of survival in patients with AL amyloidosis. Cardiovascular events leading to death include progressive heart failure or arrhythmias, although the exact cause is often unclear.
Can you live a normal life with AL amyloidosis? ›There is no cure for patients with AL amyloidosis but more frequently patients can go into remission with drug therapy. In our experience, the majority of patients surviving the first six months can often start recovering thereafter and can typically live normal or near normal lives for years to come.
What is the most common organ affected in AL amyloidosis? ›
"AL" stands for amyloid and light chain. In AL amyloidosis, the light chain proteins are misshapen and there are too many of them. These are deposited in tissues and can damage one or more organs. The heart, kidneys, nerves, and gastrointestinal system are the most common organs affected.
Is AL amyloidosis a terminal illness? ›If diagnosed and treated early on, AL amyloidosis may become a chronic disease. But left untreated, it leads to life-threatening conditions that may be fatal.
Is AL amyloidosis a death sentence? ›Amyloidosis can affect the heart, kidneys, liver, spleen, nervous system, stomach or intestines. The condition is rare (affecting fewer than 4,000 people in the United States each year), but it can be fatal.
What is the new treatment for AL amyloidosis? ›New Immunomodulatory Agents (IMiDs) Cereblon (CRBN) targeting immunomodulatory agents, lenalidomide and pomalidomide, are currently major options for rescue therapy in AL amyloidosis as they can overcome resistance to alkylating agents and PIs (and potentially daratumumab).
What are the stages of AL amyloidosis? ›Stage I encompasses those patients with no elevated risk factors, while stages II, III, and IV encompass those who have one, two, or three elevated risk factors, respectively.
How long is chemo for AL amyloidosis? ›Our AL amyloidosis patients typically undergo treatment for six months to two years. In some cases, treatment can be curative. The first goal for treating newly diagnosed patients is to improve organ function.
What organ damages amyloidosis? ›Amyloidosis (am-uh-loi-DO-sis) is a rare disease that occurs when a protein called amyloid builds up in organs. This amyloid buildup can make the organs not work properly. Organs that may be affected include the heart, kidneys, liver, spleen, nervous system and digestive tract.