AL amyloidosis is a hematological disorder, associated with plasma cell dyscrasia that means an abnormal condition of blood cells [from Greek dyskrasia, literally "bad mixture,"], in which extra-cellular insoluble protein (amyloid) fibrils accumulate in various tissues and organs throughout the body. These amyloid fibrils, formed by an errant (monoclonal) group of plasma cells in the bone marrow, consist of abnormal immunoglobulin (Ig) light chain proteins (M proteins). Except for those within the central nervous system, amyloid fibrils can affect any major organ in the body. The most common organs affected are the kidney, heart, liver, and autonomic or peripheral nerves.
AL amyloidosis is a rare disease; approximately 3000 new cases are reported each year in the United States. It is similar in many ways to multiple myeloma, another plasma cell dyscrasia. In multiple myeloma, plasma cells proliferate and accumulate in the patient's bone marrow, replacing healthy tissue, and produce M-proteins. Two thirds of patients with AL amyloidosis are male and less then 5% of patients are under 40 years of age. Both the causes and origins of AL amyloidosis along with the mechanism of amyloid deposition remain poorly understood.
The clinical course of AL amyloidosis is usually associated with rapid disease progression and involvement of multiple organ systems. Survival depends on:
In primary (AL) amyloidosis, the organs most often involved include the heart, kidneys, nervous system, and gastrointestinal tract. Amyloid deposits in these organs can cause shortness of breath, fatigue, edema (swelling of ankles and legs), dizziness upon standing, a feeling of fullness in the stomach (especially after eating), diarrhea, weight loss, enlarged tongue, numbness of the legs and arms, and protein in the urine.
Under treatment options we include some very high level discussion on:
There are likely other primary treatment options that we will try to include in the future. However, at present the treatment of AL Amyloidosis is limited. The main approach to treatment is two fold.
LIMITING PRODUCTION - Treatment is aimed at reducing or eliminating the bone marrow disorder i.e. the plasma cells that are responsible for producing the Amyloid, thereby limiting or halting the production of Amyloid. These treatments usually involve the use of chemotherapy.
When the production of Amyloid is reduced. The existing Amyloid deposits may slowly regress, alleviating some, if not all symptoms.
Chemotherapy can be taken in periodic low dose usually in pill form. The most common are Melphalan(Alkeran) or Cytoxin(cyclophosphamide). Frequently an additional dose of a steroid drug is also given orally and usually consists of prednisone or Dexamethasone. Sometimes just Dex is given to see if there is an initial response and sometimes may be used to prolong an initial response.(there was a small clinical trial that indicated Dex alone was not effective).
Chemotherapy can also be taken in high dose form and it goes by several different names such as stem cell transplant, stem cell rescue, autologous stem cell transplant, etc. Evidence is cautiously emerging that suggests the clinical benefit of using AuSCT in conjunction with high-dose chemotherapy (HDCT) regimens to either slow the progression or stop further production of the disease in patients. The idea is to try and eliminate all the bad plasma cells in the bone marrow then re-grow the bone marrow using the patient's own stem cells.
There are other therapeutic approaches to trying to stop the production of Amyloid but so far the results are not as established as "chemo". This section does not yet provide a detailed discussion of Secondary/Maintenance Treatments. The list includes, but, is not limited to:
Several of the drugs mentioned above may also be prescribed in combination with one another. This "cocktail" approach to medication is showing some promise and are in several clinical trials.
Please note, we like to stick to therapy that is currently in use or in trials. This section at some point will also include some self-help issues such as diet, nutrition and exercise for the amyloid patient.
Stem cell transplantation is defined as a process in which stem cells, immature cells from which all blood cells develop, are harvested from either a patient's or donor's bone marrow or peripheral blood for intravenous infusion. Your blood is passed through a machine that removes the stem cells (immature cells from which all blood cells develop), then returns your blood to you. This procedure is called leukapheresis and, for amyloidosis patients, usually takes 1 to 3 days to complete. The stem cells are treated with drugs and then frozen until transplanted into a recipient. The transplant can be used to effect hematopoietic reconstitution (rebuild the bone marrow) following high doses of chemotherapy and/or radiation therapy. There are two main types of bone marrow transplantation: allogeneic and autologous. Allogeneic stem cell transplantation is a procedure in which stem cells or bone marrow is obtained from a healthy donor. AuSCT restores stem cells using the patient's own previously harvested cells.
This is a typical schedule. Depending on how well the patient tolerates the procedure, the overall length of time will vary. Some may complete it in 5 weeks other may need 8 weeks.
At this point you may not understand everything on the calendar. It will be vary somewhat for each individual. Wherever you go for treatment and if they offering you an AuSCT, then it is essential that you work out the details of the treatment plan.
Once you begin it is essential that you have a caregiver/companion, as you will require a great deal of attention. Your caregiver will do for you what you cannot do (e.g. drive, wash clothes, fix meals, etc.) Your job at this point is to concentrate on getting well.
In the days leading up to day zero, it is all preparation. Your caregiver is "learning the ropes". He or she needs to know who the doctors and nurses are; where things are kept to keep you comfortable; manage your schedule; learn to manage your medications; see to your personal hygiene and nutrition; arrange for transportation to/from the clinic; monitor your general condition; be the interface between you and your doctors; help cope with bouts of depression; provide moral support; and just be there to help you.
There are lots of things to think about. At around day 3 you will be feeling the effect of the chemo. You will become lethargic and fatigued. You will lose your appetite. The medications are (and there are lots of them) essential to your recovery. The caregiver must ensure that you get the proper allotment of medications 3 times per day. You will be given things to keep your mouth clean….use it. Your caregiver must follow-up and make sure you do these things morning, noon and night. Remember you have no immune system at this point. Bacteria that you came into contact with day-to-day before can now make you quite ill or even cause you to die. You caregiver must keep things clean. You and your caregiver must wash your hands regularly and dry them using disposable paper towels. Do not stock up fresh, fruits or vegetables; you can't have them. (No fresh flowers either!). Ask the nurses or other amyloidosis patients what kind of food to have on hand. Many will say things that are sealed, such as canned, soft foods, for example, pudding, jello, and Popsicles. Also, toast and scrambled eggs are always good. Regarding drinks, things like Carnation Instant Breakfast or Ensure that has vitamin supplements are also excellent.
For more information, click here to visit the BMT Info Net.
The information provided at this site is to be used for informational purposes only. Our foundation does not engage in the practice of medicine. In all cases, we recommend that you consult your own physician regarding any course of treatment or medicine. Furthermore, we are not responsible for any errors in the information content which was obtained from sources believed to be reliable.