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 physician’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.

Causes

The cause of MDS is unknown, but research shows that certain risk factors are associated with the disease.

Risk Factors

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:
  • Down syndrome
  • Fanconi anemia
  • Shwachman-Diamond syndrome
  • Congenital neutropenia
  • Familial platelet disorders
• 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 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 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 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 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:

Prevention

To help reduce your chance of 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

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Myelodysplastic Syndromes Foundation http://www.mds-foundation.org

Neutropenia Support Association http://www.neutropenia.ca/

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http://www.mds-foundation.org/pdf/CEL411%20Factsht%20v8.pdf
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Goldman L, ed. Cecil Textbook of Medicine. 22nd ed. Philadelphia, PA: W.B. Saunders Company; 2004.

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

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http://www.cancer.org/acs/groups/cid/documents/webcontent/003122-pdf.pdf
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Myelodysplastic syndromes (MDS). National Marrow Donor Program website. Available at:
http://bethematch.org/for-patients-and-families/learning-about-your-disease/myelodysplastic-syndromes/?_ga=1.117631946.252394797.1418414089
Accessed December 12, 2014.

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