Overview and Facts about Amyloidosis
Amyloidosis is a group of diseases caused when amyloid, an abnormal protein, builds up in different tissue or organs (e.g., heart, liver, kidney, skin, eyes, lungs, nervous system). This buildup can potentially lead to life-threatening organ failure.
It can be primary (occurring on its own) or secondary (as a result of another medical issue such as inflammatory bowel disease (IBD), rheumatoid arthritis or tuberculosis).
There are several types of amyloidosis:
- AL amyloidosis (light chain amyloidosis): This is the most common type of amyloidosis, usually affecting the heart, kidneys, skin, nerves and liver. It is caused by cancerous plasma cells in the bone marrow. Plasma cells are a type of normal immune cell that, when functional, produces important protective antibodies that produce amyloid protein. In AL amyloidosis, plasma cells produce misfolded antibodies that cause damage to organs. This protein can cause low blood counts, heart failure, kidney failure, nerve damage and liver damage. If recognized and treated early, outcomes are generally favorable and have remarkably improved over the last decade.
- ATTR Amyloidosis (transthyretin amyloidosis): can be either hereditary (familial) or acquired (wild type).
- Hereditary transthyretin amyloidosis (hATTR) is a multi-organ, progressive, life-threatening disease caused by mutations in the liver. In patients affected with hATTR, amyloid builds up in the peripheral nerves, gastrointestinal tract, heart and kidneys resulting in multi-organ dysfunction. Loss of strength and sensation caused by damaged nerves is typically an early indication of the disease and starts as a weakness and pain in the lower extremities.
- Wild-type ATTR (ATTRwt) amyloidosis is a slow progressive disease, affecting older people (after age 65), mostly men, and manifested as heart failure, atrial fibrillation and carpal tunnel syndrome.
- AA amyloidosis: Can affect kidneys or digestive tract, liver or heart. Occurs with chronic or inflammatory diseases such as rheumatoid arthritis or IBD.
- Dialysis-related amyloidosis: Usually occurs in people on long-term dialysis – can cause pain in joints and tendons, as well as carpal tunnel syndrome.
Because amyloidosis can affect so many parts of the body, your healthcare team may include hematologists, nephrologists, cardiologists, pulmonologists, neurologists, pathologists and internists.
There is currently no cure for amyloidosis, but treatments such as stem cell transplants or treating the related condition (i.e., arthritis) may help manage symptoms and limit the production of the amyloid protein.
Amyloidosis Clinic
The specialists at Loyola Medicine provide comprehensive services to support patients with all types of amyloidosis. We are committed to developing a plan that is right for you, addressing the underlying cause and treating your amyloidosis to help you manage and control the disease, getting you back to your active lifestyle and daily activities.
Signs and Symptoms of Amyloidosis
Amyloidosis can affect any organ or tissue. Signs and symptoms of amyloidosis include:
- Limb weakness and pain, loss of sensation
- Bladder and bowel issues
- Sexual dysfunction
- Issues with blood pressure
- Nausea
- Dizziness
- Chest pain
- Disrupted sleep
- Fatigue/weakness
- Shortness of breath
- Weight loss or lack of appetite
- Irregular heartbeat or heart failure
Amyloid deposits can also lead to diseases in the eye, kidneys, thyroid gland, adrenal gland and blood vessels.
Causes and Risk Factors of Amyloidosis
Amyloidosis is caused by a buildup of amyloid, an abnormal protein produced by your bone marrow or liver. When these proteins build up in the tissue space between cells, they interfere with your body’s normal function.
While anyone can get amyloidosis, your risk can increase due to a number of factors:
- Age (between 60 and 70)
- Sex: Almost two-thirds of people affected by amyloidosis are men
- Other diseases, such as IBD or rheumatoid arthritis
- Family history of amyloidosis
- Kidney dialysis: abnormal proteins may build up in blood vessels for people on long-term dialysis
Tests and Diagnosis of Amyloidosis
Early diagnosis can help prevent organ damage. Symptoms, family history and a physical exam help to confirm diagnosis, as well as several tests:
- Blood and urine tests
- Heart imaging studies, including ECG, echocardiogram and cardiac MRI
- Electromyography/nerve conduction studies
- Genetic testing: Different mutations lead to different types of disease. The precise mutation identified may provide information about treatment options.
- Tissue biopsy: Tissue samples may be taken from an organ such as your liver or kidney, or from bone marrow or abdominal fat. This sample is then examined in a lab to confirm the type of amyloidosis.
Treatment and Care for Amyloidosis
While there is currently no cure for amyloidosis, it can be managed and the underlying issue (if related to another illness) can be addressed. Treatment for amyloidosis depends on which type you have by targeting the cause of abnormal protein production.
- AL amyloidosis: Chemotherapy medications, plasma cell directed therapy as well as stem cell transplant are options to treat this type and clinical trials may be available for select patients.
- AA amyloidosis: Treatment usually addresses the underlying medical issue, such as IBD or rheumatoid arthritis.
- Hereditary amyloidosis: Liver transplantation has historically been the typical course of treatment for this type, often combined with heart and kidney transplantation. Recently there has been progress in medication treatment for this type, which works to either block the abnormal protein production or stabilize the abnormal protein.
- Dialysis-related amyloidosis: Kidney transplantation is the typical course of treatment for this type. Changing dialysis modality or more frequent/longer dialysis sessions (at home or in-center) will help in non-transplant candidates.
To manage any symptoms or pain of amyloidosis as you go through your treatment plan, your doctor may prescribe pain medication, blood-thinning medication and others to control your heart rate.
Amyloidosis Clinic
The specialists at Loyola Medicine provide comprehensive services to support patients with all types of amyloidosis. Our multidisciplinary team works closely together and includes cardiologists, hematologists, nephrologists, neurologists, surgeons, pathologists and gastroenterologists.
We will develop a clinical treatment plan that is right for you, including both standard available therapies in addition to the opportunity to participate in clinical trials seeking to improve the outcomes for all patients with amyloidosis. We look forward to working with you.
Further support:
You are not alone! This is a rare disease but there are others facing the same challenge. There are several support groups available as helpful resources:
