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Myelodysplastic Syndromes

(MDS; Myelodysplasia; Preleukemia; Smoldering Leukemia; Subacute Leukemia)
  • Definition

    Myelodysplastic syndromes (MDS) are a group of diseases that involve dysfunction of the bone marrow. Bone marrow is the tissue found within the bones; its task is to create mature blood cells from stem cells. In all forms of MDS, this normal cell-creation process is disrupted by the overproduction of clones of a single stem cell. This leads to a decrease in production of normal red blood cells, white blood cells, and platelets.
    The World Health Organization has classified MDS into eight categories. Some forms are more serious than others; all of them are serious enough to require a doctor’s care. Thirty percent of people with MDS develop acute myeloid leukemia (AML). Leukemia is a cancer of the white blood cells and their parent cells. As more is learned about MDS, experts began to see it as a form of cancer.
    Location of Active Bone Marrow in an Adult
    nucleus factsheet image
    Copyright © Nucleus Medical Media, Inc.
  • Causes

    The cause of myelodysplastic syndrome (MDS) is unknown, but research shows that certain risk factors are associated with the disease.
  • Risk Factors

    Myelodysplastic syndrome (MDS) is more common in men and in those aged 60 years and older. Other factors that may increase your chance of MDS include:
    • Family members with MDS
    • Certain genetic syndromes:
    • Exposure to large amounts of radiation
    • Exposure to certain chemicals, such as benzene
    • Exposure to pesticides
    • Radiation therapy and/or chemotherapy treatment for cancer
    • Smoking
  • Symptoms

    • Typically, there are no symptoms in the early stages of myelodysplastic syndrome (MDS). Later stage symptoms may vary from person to person, depending on how serious the disease is. Later stage symptoms may include:
    • Signs of anemia due to underproduction or red blood cells include:
      • Fatigue
      • Shortness of breath
      • Pale skin
      • Feeling weak and tired
      • Heart failure (in severe cases)
    • Neutropenia occurs when there are inadequate levels of white blood cells. White blood cells fight infection. Signs of this condition include:
      • Fever
      • Cough
      • Frequent, unusual, or especially serious infections
    • Thrombocytopenia occurs when there are inadequate levels of platelets in the blood. Platelets stop bleeding by clotting the blood. Signs of thrombocytopenia include:
      • Bleeding easily, especially from the nose and gums
      • Bruising easily
    • Other symptoms may include loss of appetite, weight loss, and feeling tired.
  • Diagnosis

    Your doctor will ask about your symptoms and medical history. A physical exam will be done. The symptoms for myelodysplastic syndrome (MDS) can indicate many other conditions. Doctors have to rule out other conditions before diagnosing MDS.
    Tests may include the following:
    • Blood test to check your red and white blood cell counts and platelet counts and to check how the blood cells look.
    • Bone marrow biopsy to check for MDS. A bone marrow biopsy is the removal of a sample of bone marrow for testing.
    • Your doctor may also order other tests to rule out other conditions.
  • Treatment

    Treatment for myelodysplastic syndrome (MDS) depends on your age, other medical conditions, and how serious the disease is. Treatment also depends on how far along the disease has progressed to acute myeloid leukemia (AML). Often, treatment includes relieving the symptoms of MDS. Talk with your doctor about the best treatment plan for you. You may be referred to a hematologist and an oncologist. A hematologist specializes in blood diseases. An oncologist specializes in cancer. Treatment options include:
    Blood Transfusion
    If you have a low red blood cell, white blood cell, or platelet count, you may receive a blood transfusion. A blood transfusion is a treatment that involves receiving blood products (red cells, white cells, platelets, clotting factors, plasma, or whole blood) through a vein. The blood components may come from an unrelated donor, from a related donor, or may have been banked in advance by the recipient.
    If you have a low white blood cell count, you may receive antibiotics to fight infection.
    Growth Factors
    Growth factors help the bone marrow produce blood cells. The following growth factors may be used to treat myelodysplastic syndrome (MDS):
    • Erythropoietin (EPO) is a growth factor that helps the bone marrow produce red blood cells.
    • Granulocyte colony-stimulating factors (G-CSF) and granulocyte macrophage colony-stimulating factors (GM-CSF) are growth factors that help the bone marrow produce white blood cells. Pegfilgrastim is a form of G-CSF that is longer-acting.
    • Oprelvekin is a drug that helps the body produce platelets.
    Chemotherapy is the use of drugs to kill cancer cells. Chemotherapy may be given in many forms including: pill, injection, or via a catheter. The drugs enter the bloodstream and travel through the body killing mostly cancer cells, but also some healthy cells.
    Standard Chemotherapy
    There are 3 combinations of chemotherapy drugs used to treat myelodysplastic syndrome (MDS). These combinations include:
    • Cytarabine and idarubicin
    • Cytarabine and topotecan
    • Cytarabine and fludarabine
    Hypomethylating Agents
    Hypomethylating agents are drugs that slow down the growth of cells, and include:
    • Decitabine
    • Azacitidine
    Immunomodulating Therapy
    Immunomodulating drugs change the immune system, and include:
    • Thalidomide
    • Lenalidomide
    Immunosuppression Agents
    Immunosuppression agents suppress the immune system, and include:
    • Anti-thymocyte globulin (ATG)
    • Cyclosporine
    Stem Cell Transplant
    The only cure for myelodysplastic syndrome (MDS) is a stem cell transplant (SCT). An SCT starts with high-dose chemotherapy to kill the bone marrow, and is then followed by an injection of healthy stem cells. The stem cells used can come from the blood or bone marrow.
    There are 2 types of SCT. The less common one is called an autologous SCT, and occurs when the patient is injected with her own cells after high-dose chemotherapy. The more common method is called allogeneic and occurs when a patient gets donor cells after high-dose chemotherapy.
    Many doctors will only perform an SCT on a patient that is aged 50 years old or younger.
  • Prevention

    To help reduce your chance of myelodysplastic syndrome (MDS):
    • Avoid exposure to hazardous chemicals such as benzene
    • Don’t smoke or if you do smoke, quit
    • Reduce your risk for developing cancer:
      • Eat a balanced, healthful diet
      • Stay active
      • Maintain a healthy weight
      • Avoid environmental and occupational risks

    Leukemia &Lymphoma Society

    Myelodysplastic Syndromes Foundation


    Aplastic Anemia & Myelodysplasia Association of Canada

    Neutropenia Support Association


    Ableoff M, ed. Clinical Oncology. 4th ed. Philadelphia, PA: Elsevier; 2005.

    Ableoff M, ed. Clinical Oncology. 3rd ed. Philadelphia, PA: Elsevier; 2004.

    Frequently asked questions about MDS page. The Myelodysplastic Syndromes Foundation website. Available at: Accessed December 12, 2014.

    General information about myelodysplastic syndromes treatment. National Cancer Institute website. Available at: Accessed December 12, 2014.

    Goldman L, ed. Cecil Textbook of Medicine. 22nd ed. Philadelphia, PA: W.B. Saunders Company; 2004.

    Hoffman R, Benz E, et al, eds. Hematology: Basic Principles and Practice. 4th ed. Philadelphia, PA: Elsevier; 2005.

    Myelodysplastic syndrome. American Cancer Society website. Available at: Accessed December 12, 2014.

    Myelodysplastic syndrome. EBSCO DynaMed website. Available at: Updated November 7, 2014. Accessed December 12, 2014.

    Myelodysplastic syndromes. American Cancer Society website. Available at: Accessed December 12, 2014.

    Understanding myelodysplastic syndromes (MDS). The Myelodysplastic Syndromes Foundation website. Available at: Accessed December 12, 2014.

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