Blood Disorders | Myelodysplastic Syndromes

Most patients with myelodysplastic syndromes (MDS) are over age 60 and initially visit their doctor because they are experiencing fatigue due to anemia, a condition where there are not enough red blood cells to carry oxygen. If the anemia is severe, the patient may require red blood cell transfusions.

In addition, some patients have bruising and bleeding due to a low platelet count. Others develop infections because they have fewer white blood cells to fight off infection. MDS also can cause:

The severity of symptoms ranges dramatically from one patient to another.

The diagnosis of myelodysplastic syndromes (MDS) requires a bone marrow aspiration and biopsy, where a needle is inserted into the hip bone to withdraw a small amount of fluid (this is the aspiration) and part of the spongy center of the bone (this is the biopsy). However, a simple blood test that checks the number of each specific type of blood cell and how they appear under a microscope often can render clues that support the diagnosis of MDS.

In addition to the bone marrow aspiration and biopsy, a specialized chromosome analysis, called cytogenetics, is necessary for definitive diagnosis. As with the bone marrow aspiration, cytogenetics also requires a small amount of fluid from the hip bone for analysis.

Once diagnosed with MDS, prognosis depends on the extend of the low blood counts, whether there are any signs of leukemic cells in the bone marrow, and on the results of a specialized chromosome test done on the bone marrow called cytogenetics. Many patients with MDS eventually develop acute myeloid leukemia (AML), an aggressive form of cancer in which too many immature white blood cells are made. Once AML occurs, the prognosis is dismal.

Myelodysplastic syndromes are grouped together based on how the bone marrow and blood cells look under a microscope. There are five types of myelodysplastic syndromes:

lFor most patients, myelodysplastic syndromes (MDS) is considered incurable and the goals of treatment are to make patients feel better. Some patients do not need any initial treatment. However, for those who do need therapy, many treatments are available to ease their symptoms. Patients with anemia often benefit from red blood cell transfusions, which can lead to several years of good functioning life. Other options include weekly injections of red blood cell hormones such as erythropoietin (EPO, Procrit), thalidomide, vitamin B6 or low-dose chemotherapy. Patients with RA (anemia alone) often can live five to 10 years with these supportive care measures. Patients with infections due to a low white blood cell count may be given the hormone G-CSF (Neupogen) and antibiotic therapy.

Patients with more advanced forms of MDS require more aggressive therapy. These patients often have more leukemia cells in their bone marrow or have abnormal cytogenetics, and they usually live only one to two years. Treatment options include low-dose or aggressive chemotherapy as well as experimental treatments. The goals of therapy are to improve symptoms, prolong survival and to improve the quality of the remaining life. Patients who are young enough may be eligible for an allogeneic stem cell transplant, which uses stem cells from a relative or unrelated donor. Allogeneic stem cell transplantation is the only curative therapy possible. Unfortunately, most patients with MDS are too old or too debilitated to undergo allogeneic stem cell transplantation.

Patients with advanced MDS may qualify for a number of experimental therapies including stem cell transplantation. Whether stem cell transplantation is an appropriate therapy for an individual patient depends on a number of factors including age, MDS subtype, current symptoms and the availability of a donor. Patients are encouraged to consult with a stem cell transplantation doctor to learn more about MDS, possible treatments and stem cell transplantation.

The only know curative treatment for MDS is an allogeneic stem cell transplant, also called a bone marrow transplant. At UCSF, there are five different allogeneic transplantation protocols available for patients with MDS. Some are only available for younger patients (those under 55 years old), but others are available for patients up to age 70 or even 75. These experimental protocols are aimed at evaluating the safety and effectiveness of allogeneic transplantation in older patients with MDS. With allogeneic transplantation it is expected that 20 percent to 30 percent of patients will die early of treatment-related complications, but that a minority of patients will be cured. Results seem to be better when the transplant is performed at an earlier stage of MDS and before the disease progresses to acute myeloid leukemia (AML). Transplantation is being investigated in patients who have a related donor as well as with donors found through the National Marrow Donor Program (NMDP).

Another option is an autologous stem cell transplant, where patients donate their own stem cells for transplantation. Some results suggest that a small percentage of patients (perhaps up to 30 percent) may benefit from high-dose chemotherapy and re-infusion of their own stem cells. The advantage of this type of transplant is that it does not require a donor. The disadvantage is that abnormal stem cells may be re-infused and cause MDS to develop again after the transplantation procedure.

An experimental chemotherapy drug called 5-Azacytidine has shown very promising results as a treatment for MDS. It is given by injection seven days each month for four to six months. It generally is well tolerated, even by older and sicker patients. The main side effect is mild nausea, which is easy to control. This low-dose chemotherapy medication is available at UCSF Medical Center through the National Cancer Institute (NCI) on a compassionate use basis.

An experimental therapy utilizing a high-dose form of Vitamin D also is available for patients with transfusion-dependent MDS. This multi-center trial (being tested across the United States) is currently open to volunteers. Please contact the Hematology Practice at (415) 353-2421 to learn more about this trial.