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Myelodysplastic Syndromes (MDS) Diagnosis

Myelodysplastic syndromes (MDS) are a group of disorders caused by poorly formed or dysfunctional blood cells. Diagnosing MDS can be challenging because the symptoms often resemble those of other blood disorders or may even be absent in the early stages of the disease. However, a thorough diagnostic process, including a physical exam, medical history review, blood tests, and bone marrow biopsy, helps physicians make an accurate diagnosis and initiate the appropriate treatment.

Physical Exams and Health History

The first step in diagnosing MDS is a comprehensive physical examination and a detailed health history. During the physical exam, a doctor will look for physical signs of MDS, such as pale skin, which may indicate anemia; petechiae or bruising, which may suggest thrombocytopenia (low platelet count); or an enlarged spleen or liver, which may occur as these organs try to compensate for the dysfunctional bone marrow.

A review of the patient’s medical history is equally crucial. Patients will be asked about their symptoms, which might include fatigue, shortness of breath, easy bruising or bleeding, frequent infections or a feeling of fullness below the ribs due to an enlarged spleen. The doctor will also inquire about past exposure to risk factors, such as chemotherapy, radiation therapy or certain chemicals (like benzene), which have been known to be associated with MDS. A family history of blood disorders may also provide a clue, although MDS is not typically considered a hereditary condition.

Blood Tests

Blood tests are a fundamental part of the diagnostic process for MDS. A complete blood count (CBC) is often the first test ordered. It measures the levels of red blood cells, white blood cells and platelets. In MDS, the CBC may indicate cytopenias, which are lower counts of one or more types of blood cells. It can also provide crucial information about which lineages of blood cells are affected and the severity of such deficits.

Another blood test is the peripheral blood smear, where a sample of blood is examined under a microscope. This test allows the doctor to see the size, shape, and other physical characteristics of the blood cells, which can be abnormal in MDS patients. For example, red blood cells may appear unusually large (macrocytic) or oddly shaped, a sign that they're not developing properly.

Further blood tests may include cytogenetic analysis, which looks for changes in the chromosomes of blood cells and flow cytometry, helping identify the presence of abnormal cells and immature blood cells known as blasts. These tests can help differentiate MDS from other blood disorders and even identify specific subtypes of MDS, which is important for determining prognosis and treatment options.

Bone Marrow Biopsy

While blood tests can suggest the presence of MDS, the definitive diagnosis is usually made with a bone marrow biopsy. This procedure involves removing a small amount of bone marrow, blood and bone (usually from the hip) for examination under a microscope.

The bone marrow biopsy provides a wealth of information, including the percentage of blast cells present, the overall cellularity of the marrow (how crowded it is with cells), and the presence of any abnormal cells or chromosomal changes. A bone marrow biopsy can also be used for additional tests, such as molecular genetic studies, which can detect genetic mutations that may have led to the development of MDS.

A histological examination can reveal dysplasia (abnormal development) in the various lines of blood cells. Dysplasia is a hallmark of MDS and can affect red cells, white cells and platelets. If more than 20% of blast cells are found in the bone marrow, the condition may be classified as acute myeloid leukemia (AML), which is related to but distinct from MDS.

The findings from the bone marrow biopsy are combined with the results from the blood tests and the clinical features to make a diagnosis. The World Health Organization (WHO) has established criteria for diagnosing MDS, which include specific thresholds for dysplasia in the bone marrow, the number of blasts and genetic abnormalities.


Diagnosing MDS is a multi-step process that involves a detailed physical examination, an extensive review of the patient's health history, comprehensive blood testing and a bone marrow biopsy. Each step provides crucial information that, when taken together, can lead to an accurate diagnosis. Once diagnosed, the specific type and severity of MDS can be established, allowing for a tailored treatment approach that offers the best chance for managing the disease and maintaining quality of life.

At Sheba, fighting MDS is not a solitary battle, with patients supported by an environment of care, benefitting from the latest in medical advancements and a team deeply invested in their journey to recovery.

At Sheba, fighting MDS is not a solitary battle, with patients enveloped in a supportive environment of care, benefitting from the latest in medical advancements, and a team deeply invested in their journey to recovery.

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