Amyloidosis refers to a group of diseases characterized by the deposition of abnormal proteins, known as amyloid, in various vital organs and tissues. Amyloidosis is an exceedingly rare condition, diagnosed in about 3,000 people each year.  There are many different types of amyloidosis based on the type of precursor protein.  The most common form is primary amyloidosis, or AL. AL is a bone marrow disease that is closely related to, and occasionally accompanies, multiple myeloma.  In AL amyloidosis, abnormal plasma cells in the bone marrow produce a “light chain” protein that can turn into amyloid. Some forms of amyloidosis can be inherited, and others occur secondary to chronic infectious and inflammatory diseases.
As amyloidosis can affect one or more vital organs, there is a wide spectrum of symptoms. Patients develop fatigue, and depending upon the involved organ, symptoms that may include shortness of breath, swelling, loss of appetite, constipation or diarrhea, lightheadedness, numbness in the extremities, and excessive bruising or bleeding.
When amyloid deposits form in the heart muscle, the heart stiffens and stops pumping normally. Patients then develop symptoms of heart failure, with shortness of breath, chest pain or pressure, swelling of the legs and ankles, and difficulty sleeping flat in bed. The deposits can also cause abnormal heart rhythms.
Cardiac amyloidosis can masquerade as much more common forms of heart disease, but if it is not diagnosed and treated in a timely fashion, it can be fatal, with untreated patients surviving less than two years. However, a variety of treatments are being developed to kill the abnormal plasma cells in the bone marrow, and to attack the precursor proteins that cause amyloid fibril formation. There has been great success with chemotherapy, and with new drugs being developed for the more common bone marrow disease multiple myeloma. Patients without cardiac problems can undergo a stem cell (bone marrow) transplant, that is a very effective way of putting the disease into remission. Some patients with cardiac amyloidosis can receive heart transplants followed by a stem cell transplant, or combination heart-liver transplants.
Joanne Wood received exceptional care for her amyloidosis at Boston Medical Center, the teaching hospital affiliated with the Stewart Amyloidosis Center at Boston University, one of the leading centers in the world for amyloidosis treatment and research.  There, she was treated by her expert hematologist and by other doctors and nurses familiar with her rare disease. She also received outstanding care for her cardiac disease by her world-renowned cardiologist at Brigham and Women’s Hospital.  These doctors worked as a team to help Joanne in her battle with this terrible disease, which ultimately took her life.



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