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  Myelodysplastic Syndromes

Myelodysplastic Syndromes (also called MDS) refers to a collection of hematological conditions that share a common condition of the body being unable to create blood cells, which carry a risk of evolving into acute myelogenous leukemia. This is not a true neoplasm malignancy, but is classified with in the definition of hematological neoplasms.

Myelodysplastic Syndromes
Myelodysplastic Syndromes


This disease causes anemia and can require frequent transfusions to make up for the low levels of or defection of blood cells. Three types of anemia can become apparent. Neutropenia is the low cell count of white blood cells. Anemia is the low cell count of red blood cells and Thrombocytopenia is the low cell count of platelets. Other signs of MDS are abnormal granules (parts) in cells –such as abnormal nuclear shape and size; and chromosomal abnormalities including atypical number or chromosomes and translocations or switching of chromosomes.

Symptoms due to anemia are chronic tiredness, shortness of breath, chills and chest pains. Symptoms due to neutropenia are unusual and frequent infections or increased ability to get infections. Thrombocytopenia results in unusual bleeding and bruising.

With this disease there is a risk of developing AML or acute myelogenous leukemia. Fifty percent of mortalities from this disease are a result of bleeding or infection. Unfortunately, leukemia that is progresses from MDS is highly resistant to treatment.


To diagnose MSD, a full blood count as well as a blood film is ordered for the patient. Bone marrow biopsy (where the patient is sedated and marrow is removed from larger bones in the body such as the hip bone) via aspiration or typical procedure performed by an experienced hematologist is also recommended for diagnosis. Cytogenics or chromosomal evaluation of blood cells and bone marrow will also determine the presence of myelodysplastic syndromes.


The cause of MDS is believed to be from mutated multi-potent stems cells of the bone marrow. How the mutations occur is not completely understood. The cells seem to clone rapidly and there is an increased rate of cell death within the marrow.

In the early 1900s it became a common observation that a significant population of patients with acute myelogenous leukemia experienced a chronic leukemia and abnormal cell production for a period of time before the onset of AML. These conditions were previously placed in a category known as refractory anemia with other blood disease. “Pre-leukemia” was defined as a specific condition in 1953. The syndrome was given many names, since the characterization of the disease was a challenge until the FAB classification was published assigning the term MDS.

The French-American-British (FAB) classification, first published in 1976, and revised in 1982, detailed five subtypes or categories. These categories are referred to as - refractory anemia, refractory anemia (RA) with ringed siderablasts (RARS), refractory anemia with excess blasts (RAEB), refractory anemia with excess blasts in transformation (RAEB-T) and chronic meylomonocytic leukemia (which is currently no longer a sub-classification of MDS).

The World Health Organization has modified the classification to have seven categories. The seven categories include RA, RARS from the FAB classification. The five new classifications are refractory cytopenia with multi-lineage dysplasia (RCMD), refractory cytopenia with multi-lineage dysplasia and ringed sideroblasts (RCMDS-RS), refractory anemia with excess blasts I and II, 5q-syndrome, and myelodysplasia unclassifiable


The treatment goal for myelodysploastic syndromes is to improve the quality of life, manage symptoms, survival rate and to decrease or eliminate the progression to AML (acute myelogenous leukemia).

Patients need to be assessed to determine the course of treatment. Supportive care is at the core of most therapies and includes blood product infusions and hematopoeitic growth factors. Chemotherapy currently includes two drugs - 5-azacytdine and lenalidomide – these drugs have been shown to decrease required blood transfusions and the evolution to acute myelogenous leukemia. Bone marrow transplants in younger patients and severely affected patients can be a cure. Success of the bone marrow transplant depends on the severity of the MDS.

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