Description, Causes and Risk Factors:

Abbreviation: MDS.

Types: Refractory anemia (RA), Refractory anemia with ringed sideroblasts (RARS), Refractory anemia with excess blasts (RAEB), Refractory anemia with excess blasts in transformation (RAEB-t), Refractory cytopenia with multilineage dysplasia (RCMD), Myelodysplastic syndrome associated with an isolated del (5q) chromosome abnormality, Unclassifiable myelodysplastic syndrome (MDS-U), De novo myelodysplastic syndrome, Secondary myelodysplastic syndrome.

Myelodysplasia is a term used to describe different hematological conditions where stems cells in the bone marrow fail to mature into healthy blood cells. Fewer than 100 new cases of myelodysplasia are reported in the United States each year in children. MDS is found most often in adults over the age of 50 to 65 years old, but is also seen in children of all ages. The common element in all of the myelodysplasias is anaemia, usually refractory, meaning that treatments other than blood transfusions are often not helpful.

Leukanemia affects white blood cells, which are part of the body's defense against infection. It can develop either acute or chronic. In acute leukemia, immature white blood cells accumulate in the body and can disrupt the function of many tissues and organs. Cells in chronic leukemia are slightly abnormal and do not function as well as they should.

The exact cause of myelodysplasia is not clear. It may be caused due to excessive or persistent exposure to radiation or chemicals like benzene. It may also result from treatment with cancer drugs (chemotherapeutic agents). The use of DNA-damaging drugs, exposure to radiation, and contact with benzene are all possible causes of MDS. DNA-damaging drugs include those used to treat breast, ovarian, or other types of cancer. Radiation exposure may occur during treatment for lymphoma. The people most likely to come into contact with benzene are those who work in industrial settings. Although benzene is more strictly regulated now than before its cancer-causing properties were known, exposure to benzene still accounts for some new cases of MDS, aplastic anemia, and leukemia.

Other Causes Include:

    Some cases of myelodysplasia are caused by a deletion on the fifth chromosome. This mutation can be passed on throughout a family and results in low numbers of red blood cells.

  • Genetic mutations can also accumulate over time which prevents the bone marrow from making new red blood cells, leading to myelodysplasia.

  • In some cases, patients who have received stem cell transplants can also be affected with myelodysplasia as a result of the medications.

Risk Factors:

    B12/folate deficiency.

  • Drug-induced or recent cytotoxic therapy.

  • HIV.

  • Anemia of chronic diseases.

  • Autoimmune cytopenias.

  • Chronic liver disease & excess alcohol intake.

  • AML (M7), aplastic anemia, myelofibrosis, and PNH.

  • Certain genetic syndromes:

  • Down syndrome.

  • Fanconi anemia.

  • Shwachman-Diamond syndrome.

  • Congenital neutropenia.

  • Familial platelet disorders.


Symptoms Include:


  • Shortness of breath.

  • Unusual paleness due to anemia.

  • Easy or unusual bruising or bleeding.

  • Pinpoint-sized red spots just beneath your skin caused by bleeding (petechiae).

  • Frequent infections.

  • Neutropenia occurs when there are inadequate levels of white blood cells.

  • Fever.

  • Cough.

  • Frequent, unusual, or especially serious infections.


The myelodysplastic syndrome (MDS) remains challenging to the clinician in terms of diagnosis and management. The diagnosis is essentially one of exclusion in first ruling out other disorders that can also cause peripheral blood/bone marrow cell dysplasia and cytopenias.

In addition, your doctor may recommend tests and procedures used to diagnose myelodysplastic syndromes, such as:

Peripheral blood smear: A procedure in which a sample of blood is checked for changes in the number, type, shape, and size of blood cells and for too much iron in the red blood cells.

Blood Tests: Your doctor may recommend blood tests to count the number of blood cells in a sample of your blood (complete blood count) and examine your blood for unusual changes in the size, shape and appearance of various blood cells (peripheral blood smear).

Bone marrow testing: During a bone marrow biopsy and aspiration, a doctor uses a thin needle to withdraw (aspirate) a small amount of liquid bone marrow, usually from a spot on the back of your hipbone. Then a small piece of bone and the enclosed marrow also is removed (biopsy). The samples are examined in a laboratory to look for abnormalities.

Flow Cytometry: Establishment of a specific flow cytometry signature to help diagnose MDS has been a significant target of researchers. Such a test might be helpful to confirm the diagnosis, although aberrant antigen expression that may mimic MDS has been documented in such autoimmune diseases as lupus erythematosus.

Cytochemistry: This test exposes bone marrow cells (placed on glass slides) to certain stains. One result may show granules inside cells to appear black spots under a microscope.

Immunocytochemistry: This test help distinguish different types of MDS or leukemia.

Cytogenetics: This test studies the chromosomes inside the cells.


The goal of treatment is to control symptoms, improve quality of life, improve overall survival and decrease the progression of myelodysplasia to leukemia. Supportive care with blood product support and hematopoietic growth factor (erythropoietin) is the mainstay of therapy.

No definitive cure or treatment for myelodysplastic syndromes exists. Instead, most people receive supportive care to help manage symptoms such as fatigue and to prevent bleeding and infections.

Blood transfusions: Blood transfusions can be used to replace red blood cells, white blood cells or platelets in people with myelodysplastic syndromes.

Medications include:

    Medications that increase the number of blood cells your body makes.

  • Medications that stimulate blood cells to mature, rather than remain immature.

  • Medication for people with a certain genetic abnormality.

The most aggressive treatment option is a bone marrow transplant, which can help replace the defective bone marrow cells. Another mode of treatment is the replacement of blood products, which includes vital proteins and other compounds that the bone marrow produces, such as blood cells.

Doctors and scientists are always looking for better ways to treat patients with MDS. A clinical trial is a way to test a new treatment to prove that it is safe, effective, and possibly better than a standard treatment. The clinical trial may be evaluating a new drug, a new combination of existing treatments, a new approach to radiation therapy or surgery, or a new method of treatment or prevention.

Side effects are common after a diagnosis of MDS, but it may be helpful to know that preventing and controlling side effects is a major focus of your health care team.

Disclaimer: The following tests, drugs and medications, surgical procedures are in some way related to, or used in the treatment. The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition.

DISCLAIMER: This information should not substitute for seeking responsible, professional medical care.


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