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Myelodysplastic syndrome is a group of related blood disorders that involve too many or too few cells in the bone marrow that have poor appearance and maturation. There is ineffective blood cell production and can involve red blood cells, white blood cells and platelets. MDS is considered a premalignant condition that often goes on to becoming acute myeloid leukemia or AML.

It can be primary or secondary to a complication of the aggressive treatment of other types of cancers with radiation exposure or chemotherapy. It can occur with patients heavily pretreated for bone marrow transplants. It is caused by stem cell injury from chemotherapy, radiation, viral infections or chemical exposures, such as to benzene. A person can also be genetically predisposed to getting a myelodysplastic syndrome. The mutated cells take over the production of cells, displacing healthy and normal cells. There is increased programmed cell death in the beginning (called apoptosis), followed by disease progression to leukaemia, which overwhelms the bone marrow.

Myelodysplastic syndromes were first diagnosed in 1976 as a separate syndrome. Approximately 35,000 to 50,000 patients are diagnosed per year, of which a fraction of patients are children, in the US. Most actually are sixty years old or older with a median age of 76 years. The course of the disease varies. Some have an indolent disease that does not progress or kill the person, while others go on to having AML and death. There is a slight male predilection to the disease. Any age group can be affected even though the average age is 76.

The diagnosis of myelodysplastic syndrome is based on a thorough history and physical exam. In the history, doctors look for fatigue and malaise common to being anaemic. There may be a history of congestive heart failure and a need for blood transfusions. There can be bleeding from the nose and mouth or within the skin. Fever, dysuria and cough can be a sign of bacterial infection associated with a low white blood cell count. The white blood cells that do exist tend not to work very well. Doctors look for excessive bleeding from the various places a person can bleed, pale skin, an enlarged spleen in some cases, and the presence of fever and infections like pneumonia and urinary tract infections.

The workup for myelodysplastic syndromes includes doing peripheral blood smears and peripheral blood counts to see if there are abnormalities. In doing a bone marrow biopsy, there can be significant abnormalities, depending on the type of blood cells affected. There can be a low red blood cell count, low white blood cell count or a low platelet count, or a combination of all three. There can be an abnormality of the granulocytes, which can have no segments or can be bi-lobed. They can also be hyper-segmented white blood cells.

The bone marrow evaluation often shows abnormal cells in all three cell lines (red blood cells, white blood cells and platelets). There are nuclei in red blood cells that normally have no nuclei. The white blood cells are abnormal in appearance, and platelets can be too large or too small. There is abnormal DNA in these cells in about 48-64 percent of cases. Some studies show abnormal DNA in as high as 79 percent of cases.

Other tests for myelodysplastic syndromes include genetic testing for DNA analysis. There is a method of defining who has a good prognosis and who has a poor prognosis that has been developed by the World Health Organization. It is based upon changes in genes in the affected cells. There is staging of myelodysplastic syndromes that is related to a point system. Points are given for the number of blasts in the bone marrow, the karyotype of the cells involved and the degree to which there is cytopenia. The total score is added up based on these three things and ranges from a low of zero to a high of 2.5 or more. The higher the stage, the lower is the chance of survival.

Treatment of myelodysplastic syndrome includes supportive management for low blood cell counts, including low red blood cells (anaemia), low white blood cell count (neutropenia) and low platelet count (thrombocytopenia). Drugs are given to block the formation of abnormal cells, including Dacogen and Revlimid. There are new drugs for myelodysplastic syndromes being developed at all times.

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