Myelodysplastic Syndromes

Clinical Description

Myelodysplastic syndromes (MDS) are a heterogeneous group of blood diseases that involve hematopoietic stem cells, the earliest blood-forming cells in the bone marrow. The disease is characterized by ineffective formation of blood cells, resulting in low levels of cells in the blood (cytopenia). Maturing blood cells often die in the bone marrow before they reach the bloodstream. The bone marrow ends up producing too few red blood cells (causing anemia), white blood cells and/or platelets. There may also be an accumulation of immature marrow cells, which resemble leukemia cells (blasts).

The severity of MDS is varied and ranges from mild to very severe. MDS may remain mild for many years before it progresses to moderate or more severe forms. Severe decreases in red blood cells (anemia), white blood cells and platelets may cause difficulties with energy, fatigue, tiredness, fighting infections, and formation of blood clots to prevent bleeding. Furthermore, MDS patients are at risk for gradually forming too many leukemic blast cells in their bone marrow. Eventually, the leukemic blasts may predominate in the marrow and the MDS is said to “transform” to acute myeloid leukemia (AML).


In its mild form, patients with MDS may have no symptoms, and the disorder may be first suspected by finding low red blood cells (anemia) on a routine laboratory exam. For moderate or severe forms of MDS, patients may have symptoms caused by anemia, when the red bloods cells are too low and are unable to deliver enough oxygen to the tissues. Hence, patients may experience fatigue, weakness, and/or shortness of breath on exertion. When the white blood cells are too low and unable to fight infections, patients may experience infections of the skin, respiratory and urinary tract. When the platelets become too low and unable to clot properly, patients may first have easy bruising and nose or gum bleeding, or even more serious bleeding, such as coughing up blood or blood in the stool.

Risk Factors of MDS

Oftentimes, there is no obvious cause of MDS; however, exposure to certain chemotherapy drugs and/or radiation treatment for a previous cancer, as well as occupational exposure to benzene increases the risk of developing MDS.


How MDS is diagnosed

MDS is diagnosed by examining the blood and the bone marrow. First, blood tests are done where blood cell counts are measured and the appearance of blood cells are directly examined through the microscope. Second, bone marrow biopsy is done, where the bone marrow cells are directly examined for features of dysplasia (abnormal maturation), and special tests such as flow cytometry (which detects protein markers on the surface of the cells) and cytogenetics (studying the chromosomal structure of the cells) are carried out. The prognosis of MDS patients can be established by combining the results of these laboratory tests, and is useful for developing a treatment plan.

Treatment Options for MDS at Tufts Medical Center

Patients should first be evaluated by a specialist to determine the type of MDS and the prognosis. Patients with mild or more chronic forms of MDS can often tolerate moderate decreases in their blood counts. These patients can often be watched over time with regular clinical and blood tests.

For patients who develop more obvious symptoms of MDS, transfusion of red blood cells and platelets is often required. Drugs that stimulate blood cell production such as erythropoietin, G-CSF and danazol may also be used.

For certain patients with intermediate disease or more severe forms of MDS, a specialist should determine how MDS can affect the quality of life and at what point the disease might progress to AML. Such patients should be evaluated for a possible allogeneic stem cell transplant, as this is the only curative treatment. New preparative regimens for transplant are now available and have extended the age range of patients for transplant. Depending on the physical condition and any other underlying conditions, transplants are now performed at Tufts Medical Center for MDS patients up to the age of 70 years. Recently, Medicare has agreed to cover stem cell transplants for patients who participate in certain clinical trials. These options are all available at Tufts Medical Center. Tufts MC has pioneered reduced intensity transplants that allow higher-risk and older patients to receive the benefits of transplant with lower risks.

For advanced MDS patients with low platelet counts, Tufts Medical Center has a clinical trial of a drug call elthrombopag, which has been shown to increase platelet counts and decrease the need for platelet transfusion in some patients.

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