There are many different types of amyloidosis. All are characterized by amyloid proteins building up in organs. The source of the amyloid protein production is variable, and thus treatment options vary widely.
AL- systemic light chain amyloidosis. This type of amyloid protein is produced by plasma cells in your bone marrow. Amyloidosis can affect different organs in different people; however, the most commonly affected organs include the kidney and heart, followed by the liver, spleen, nervous system, skin and gastrointestinal tract.
Amyloidosis may occur on it’s own or it may be secondary to multiple myeloma. Multiple myeloma is more common than amyloidosis, and about 10 percent of patients with multiple myeloma will also have amyloidosis.
Symptoms of AL amyloidosis are often vague and difficult to recognize early on, which is why diagnosis is often made when the disease is advanced and is associated with organ dysfunction or failure. Symptoms include:
- Reduced exercise capacity
- Swollen legs
- Shortness of breath
- Easy bleeding or bruisability
- Pain, numbness or tingling
- Dizziness or lightheadedness
- Nausea, loss of appetite, diarrhea or constipation
AA- Secondary Amyloidosis. This type of amyloidosis usually occurs as a result of an underlying inflammatory disease or chronic infection. The kidney is most commonly affected. Treatment is aimed at the underlying disorder.
ATTR- Hereditary Amyloidosis. This type of amyloidosis is transmitted from parent to child. The major source of production of the TTR protein is the liver. Each child has a 50 percent chance of inheriting the mutation if a parent is affected. The nervous system and heart are most commonly affected. Treatment with liver transplantation in some sub-types of ATTR can slow disease progression, but it may not improve the function of affected organs. There are several investigational agents that are currently being evaluated, and OHSU is a center that is able to offer participation in these clinical trials.
Wild-type TTR amyloidosis. This was previously known as senile amyloidosis as it was thought to occur only in elderly patients. This is not hereditary and occurs as a result of abnormalities in the genetically normal TTR protein. This predominantly results in heart failure and arrhythmias. At OHSU we are participating in a clinical trial that is investigating a molecule that is thought to slow or halt the progression of this condition.
The diagnosis of amyloidosis may occur during urine testing, blood work, a biopsy or following the onset of symptoms. In order to diagnose amyloidosis, the following tests are required:
- Biopsy of an involved organ or of the abdominal fat pad showing amyloid deposits in the tissue by Congo red stain and apple green birefringence under polarized light microscopy. Amyloid type may need to be determined by special testing on the tissue including immunofluorescence and mass spectrometry.
- Imaging of the heart or other organs, using 2d echocardiogram and possibly a MRI
- Blood and urine tests to detect the abnormal protein that plasma cells produce (to detect AL- this is the M- protein or light chain)
- Bone marrow aspirate and biopsy. This is a routine procedure that takes place in the doctor’s office, and it is performed by inserting a needle into the back of your pelvis. This test is usually done using local anesthesia.
- Genetic testing, if hereditary amyloidosis is suspected
AL- systemic light chain amyloidosis.
Although not curable, AL is treatable. Treatment depends on whether you are healthy enough to have a stem cell transplant. Due to the fact that AL may be diagnosed very late when the organs are significantly affected, stem cell transplant may not be an option.
Standard treatments include:
- Bortezomib (Velcade)
- Lenalidomide (Revlimid)
- Cyclophosphamide (Cytoxan)
- Corticosteroids (dexamethasone or prednisone)
- Stem cell transplant
- Melphalan (Alkeran)
- stem cell transplantation is a highly beneficial option with lasting remissions for people who are eligible.
At the OHSU Knight Cancer Institute, you have access to the newest and most advanced bone marrow transplant treatments. Our doctors are among the United States’ top specialists in blood diseases.
We offer clinical trials that are designed at OHSU or are part of national and international collaborations.
Our amyloidosis team
At the OHSU Knight Cancer Institute, our team of doctors, nurses and therapists is dedicated to diagnosing, treating and managing amyloidosis. Our amyloidosis doctors have extensive knowledge about amyloidosis diagnosis and treatment and meet weekly to discuss all of our patients, giving you the benefit of the entire team’s knowledge and expertise.
Hematology/ oncology and stem cell transplant
Stephen Heitner, M.D. Co- director of the Amyloid Multi- D center
Director of the OHSU hypertrophic cardiomyopathy Center, Clinical Echocardiography Laboratory Director