Major Treatments

The treatment of AL (historically known as primary) amyloidosis is usually chemotherapy. Decisions about treatment are individualized for each patient depending on degree of involvement, eligibility for certain protocols and patient wishes.

For a number of years melphalan (also known as alkeran), a type of chemotherapy, has been the treatment of choice.  It is given intravenously or in pill form.  Intravenous melphalan followed by a stem cell transplant of the patient’s own (“autologous”), previously collected peripheral blood stem cells is recommended for some patients. Stem cells are cells in the bone marrow from which all blood cells develop. This treatment aims to eliminate the faulty plasma cells which make the amyloidogenic light chains. This will help to recreate a healthy bone marrow and hopefully stop further production of the amyloidogenic light chain protein. This aggressive therapy is part of an ongoing clinical trial within the Amyloidosis Center at Boston Medical Center. Previous treatment with the pill form of melphalan does not necessarily make a patient ineligible for other treatments.

Melphalan in pill form alone or in combination with the steroid dexamethasone, may be recommended for some patients, and is also effective.

Immunomodulary drugs (lenalidomide and pomalidomide) and Proteosome inhibitors (bortezomib, carfilzomib and ixazomib) for the treatment of AL amyloidosis are being developed and have been studied in clinical trials here at the center.  At present, clinical trials are on-going with monoclonal antibodies called daratumumab and isatuximab. Both have been used with success in multiple myeloma.

In AA (historically known as secondary) amyloidosis, the treatment depends on the underlying disease. It is important to control the chronic infection or inflammatory disease which is responsible for the amyloid formation. Medical or surgical treatment may be used to accomplish this. In addition, colchicine is sometimes prescribed.

For hereditary ATTR amyloidosis, the treatment has been liver transplantation. Since the transthyretin protein which causes hereditary amyloidosis is made in the liver, replacing this organ removes the source of mutant protein production. A new liver will make only normal transthyretin. In 2018, 3 large clinical trials of 3 new pharmaceuticals were published in the prestigious New England Journal of Medicine each showing benefit in ATTR amyloidosis. Again, physician scientists and patients at the BU Amyloidosis Center participated in each of these trials. Data from these trials were sufficient to permit FDA to approve both patisaran or OnpattroTM (Alnylam Pharmaceuticals) and inotersen or TegsediTM (Ionis/Akcea Therapeutics) as the first treatments for ATTR amyloidosis. Both drugs were approved for hereditary ATTR (hATTR or ATTRm) amyloidosis with evidence of neuropathy. While at our Center we utilize the oral drug diflunisal as a means to slow ATTR amyloidosis progression, this drug, while effective and inexpensive, is not tolerated by many patients. We await FDA action on the 3rd new drug reported in 2018, tafamidis (VyndaqelTM, Pfizer, Inc.) which will seek approval for ATTR amyloidosis with cardiomyopathy and provide needed treatment for these patients.

ATTR- wild type (historically known as senile/age related) amyloidosis is quite common and is related to normal transthyretin protein, which misfolds and causes amyloid cardiomyopathy. Early detection and supportive treatment are currently being used. We also use diflunisal, EGCG (green tea extract) and clinical trials for the treatment of this type of amyloidosis.

Supportive Treatments

Supportive treatments are the measures taken to alleviate specific problems and symptoms caused by amyloid deposits in various organs and they are very important in all amyloid types. For example, if the heart or kidneys are affected, patients may need to take a diuretic (water excretion pill), restrict the amount of salt in their diet, or wear elastic stockings and elevate their legs to help lessen the amount of swelling. When the gastrointestinal tract is involved, dietary changes and certain medications can be tried to help symptoms of diarrhea and stomach fullness. These and other supportive therapies have increased the length and quality of life for many individuals with amyloidosis.

Side effects of Treatments?

It is important to ask about the side effects of treatment.  All medications have side effects, and the risks associated with medication must be evaluated along with the anticipated benefits.  Your doctor will be sure you are informed of both risks and benefits of the treatment recommended for you.

What is the prognosis?

A “prognosis” is an assessment of the future course of a disease, and in amyloidosis it varies with each patient. It depends on the type of amyloidosis, the specific organ systems involved, and the extent of involvement. An exact course of the disease is unpredictable. The outlook is better each year as clinical research has led to improvements in therapy. Some patients have achieved remission of disease and major organ system improvement.  The goal of our treatments is to cure and if not to induce a “durable” or long remission.

Should amyloid patients follow a special diet?

It is important to follow a well-balanced nutritious diet. It is often necessary to make some dietary changes to help relieve symptoms or maintain body weight. This is particularly true in patients with kidney or heart diseases. Any dietary changes deemed necessary will be discussed during evaluation.

Should physical activities be restricted?

If fatigue or shortness of breath occurs, it is important to rest. Patients should not push themselves or attempt strenuous activities beyond what is recommended by the doctor. Normal daily activities may be carried out as usual. Usually patients can continue working and are encouraged to do so.