Diagnosis
A diagnosis is made by measuring a person's blood cell counts and examining the appearance of the blood cells in blood and marrow under a microscope. In addition, a sample of blood and marrow cells is examined to determine if there are any chromosomal abnormalities. This examination of cells, called a cytogenic analysis, can be helpful in reaching a conclusion about the diagnosis. The marrow cells are obtained through tests called bone marrow aspirate and bone marrow biopsy.

Fluorescence (F) in (I) situ (S) hybridization (H), often referred to as FISH, is a method to identify cells whose nuclei contain chromosomal abnormalities.FISH can be used to identify abnormal cells for diagnosis and to follow the effects of therapy.

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Signs and Symptoms 
Chronic or nonprogressive forms of MDS  of the disorder, the diagnosis may first be suspected from a finding of anemia during a medical evaluation. If the anemia is moderate or severe, exaggerated fatigue, shortness of breath on exertion (such as during climbing stairs), pale skin or weakness may be present.

In the more advanced and progressive form of the disease, which is a low blast cell count myelogenous leukemia, the patient often comes to medical attention because of loss of sense of well being, fatigue, weakness, or loss of appetite.

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Causes and Risk Factors

The causes of MDS are similar to those of acute myelogenous leukemia (AML). In most cases the disease has no specific, clear-cut triggering event. The followinf factors can increase the risk of developing MDS or AML:

• The use of certain drugs that damage DNA. These drugs are used to treat lymphoma, myeloma or other cancers, such as breast or ovarian cancer.
• The use of therapeutic radiation for lymphoma.
• Exposure to benzene above threshold levels for protracted periods of time, usually in an industrial setting. The stringent regulation of benzene use in the workplace has diminished the frequency of benzene as a risk factor for MDS or AML.

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Determining the Need for Treatment and Treatment Approaches
In this group of diseases, those at the chronic and stable end of the spectrum are often not treated. In patients with more troublesome decreases in blood cell counts, drugs that can stimulate blood cell production may be useful.

In more severe and progressive cases, the disease may require treatment with chemotherapy. Factors that determine treatment with chemotherapy include age, the patient's coexisting medical condition, the severity of the manifestations of the disease and the rate of progression of the disease.

In the very small proportion of patients who are under 50 with a severe form of myelodysplastic syndrome, intensive radiation and/or chemotherapy followed by allogeneic stem cell transplantation can be considered (see Blood and Marrow Stem Cell Transplantation booklet).

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The Course of the Disease
In patients who have the least consequential type of myelodysplastic syndrome, such as mild refractory anemia with mild to moderate decreases in white cell and platelet counts, the abnormalities may not require treatment and activity levels are little affected. It is not uncommon for years or decades to pass with little change in status. Since there is a risk of evolution to a more severe disturbance in blood cell formation, which in the extreme is acute myelogenous leukemia, periodic surveillance is important.

Curative therapy is not available for most patients at this time. Younger individuals who are candidates for allogeneic stem cell transplantation may have restoration of normal blood cell formation after a successful transplant.

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Get More Information
Further details of treatment and living with MDS may be obtained from the Society's free information booklets on:

Myelodysplastic Syndromes

Understanding Drug Therapy and Managing Side Effects 

Blood Transfusion

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