Generally considered a rare or "orphan" disease, AL amyloidosis is now believed by clinicians to be more prevalent than previously thought — but the condition is often misdiagnosed. Through the Amyloidosis Program at Dana-Farber/Brigham and Women's Cancer Center, additional and much needed study is underway to identify better diagnostic and treatment modalities. We are excited about the planned new clinical trials that may lead to better understanding of the disease, earlier diagnosis, and improved outcomes for patients.
Our team takes a multidisciplinary approach to care for AL amyloidosis patients. This includes oncology specialists to treat the root cause of the abnormal protein production, as well as specialists in cardiology, nephrology, gastroenterology, neurology, and other areas to address complications that arise from the excess protein build-up on various organ systems.
Techniques for Diagnosing AL Amyloidosis
Blood and urine tests are often the first tests used to diagnose AL amyloidosis by looking for the presence of excess free light chains in the blood or proteins in the urine. Cardiac involvement is common in AL amyloidosis, and this disease is often diagnosed during evaluation of causes of heart failure. Imaging studies of the heart, such as echocardiogram and cardiac MRI, are important to establish a diagnosis.
Urine samples can show excess protein, which can be an indication that kidneys are impacted. A bone marrow biopsy is typically required to assess for quantity and characteristics of atypical plasma cell disorder.
Demonstration of amyloid deposition in the periumbilical fat (fat pad) or in affected organs via a biopsy is needed for definitive diagnosis. For example, if cardiac involvement by AL amyloidosis is suspected, a cardiac biopsy may be performed. Once the condition is confirmed, prompt commencement of chemotherapy to treat the underlying plasma cell disorder is recommended.
Personalized Treatment Plans
Treatment for AL amyloidosis involves chemotherapy to eradicate the plasma cells responsible for the production of amyloidogenic free light chain, thus stopping the production of the abnormal protein. For some patients, stem cell transplantation may be an option for long-term disease management. Many patients also require treatment for cardiac complications that arise from the disease. This may include an implantable cardioverter defibrillator or pacemaker for the treatment of atrial and ventricular arrhythmias that sometimes develop as the disease progresses.
Each patient with AL amyloidosis is unique and requires thoughtful treatment planning by a multi-specialty team considering every aspect of the patient's specific situation.
Compassionate Care and Support
We understand that cancer affects patients and their families in many ways. So, in addition to providing highly personalized care and attention from our doctors, nurses, technicians, and staff, our program offers a wide range of services, before, during, and after treatment. Support programs and resources that help patients and families include: