Myelodysplastic Syndromes

Myelodysplastic syndromes are a group of disorders caused by blood cells that are poorly formed or don’t work properly. Myelodysplastic syndromes result from something amiss in the spongy material inside your bones where blood cells are made (bone marrow).

Management of myelodysplastic syndromes is most often intended to slow the disease, ease symptoms and prevent complications. Common measures include blood transfusions and medications to boost blood cell production. In certain situations, a bone marrow transplant, also known as a stem cell transplant, may be recommended to replace your bone marrow with healthy bone marrow from a donor.

Symptoms of Myelodysplastic Syndromes

People with myelodysplastic syndromes might not experience signs and symptoms at first.

In time, myelodysplastic syndromes might cause:

  • Fatigue
  • Shortness of breath
  • Unusual paleness (pallor), which occurs due to a low red blood cell count (anemia)
  • Easy or unusual bruising or bleeding, which occurs due to a low blood platelet count (thrombocytopenia)
  • Pinpoint-sized red spots just beneath the skin that are caused by bleeding (petechiae)
  • Frequent infections, which occur due to a low white blood cell count (leukopenia)

Causes of Myelodysplastic Syndromes

In a healthy person, bone marrow makes new, immature blood cells that mature over time. Myelodysplastic syndromes occur when something disrupts this process so that the blood cells don’t mature.

Instead of developing normally, the blood cells die in the bone marrow or just after entering the bloodstream. Over time, there are more immature, defective cells than healthy ones, leading to problems such as fatigue caused by too few healthy red blood cells (anemia), infections caused by too few healthy white blood cells (leukopenia) and bleeding caused by too few blood-clotting platelets (thrombocytopenia).

Most myelodysplastic syndromes have no known cause. Others are caused by exposure to cancer treatments, such as chemotherapy and radiation, or to toxic chemicals, such as benzene.

Diagnosis of Myelodysplastic Syndromes

A physical exam, medical history and tests might be used if your doctor suspects that you have a myelodysplastic syndrome.

Tests might include:

  • Blood tests. Your doctor might order blood tests to determine the number of red cells, white cells and platelets and look for unusual changes in the size, shape and appearance of various blood cells.
  • Removing bone marrow for testing. During a bone marrow biopsy and aspiration, a thin needle is used 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 with its marrow is removed (biopsy).

Blood and bone marrow samples are sent for laboratory analysis. Specialized tests can determine the specific characteristics of your cells that will be helpful for determining the type of myelodysplastic syndrome you have, your prognosis and your treatment options.

Treatment of Myelodysplastic Syndromes

Management of myelodysplastic syndromes is most often intended to slow the disease, ease symptoms and prevent complications. There’s no cure for myelodysplastic syndromes, but some medications can help slow the progression of the disease.

If you have no symptoms, treatment might not be needed right away. Instead, your doctor might recommend regular exams and lab tests to monitor your condition and to see if the disease progresses.

Research on myelodysplastic syndromes is ongoing. Ask your doctor about clinical trials for which you might be eligible.

Blood transfusions

Blood transfusions with healthy blood cells from donors can be used to replace red blood cells and platelets in people with myelodysplastic syndromes. Blood transfusions can help control symptoms.


Treatment for myelodysplastic syndromes might include medications that:

  • Increase the number of blood cells your body makes. Called growth factors, these medications are artificial versions of substances found naturally in your bone marrow. Growth factors that stimulate your bone marrow to make more red blood cells can help reduce your need for frequent blood transfusions. Growth factors that promote white blood cell production may reduce your risk of infection.
  • Stimulate blood cells to mature. Medications that help stimulate the blood cells to mature can reduce the need for frequent blood transfusions in people who aren’t helped by growth factors. Some of these drugs may also reduce the risk that the disease may progress to leukemia.
  • Suppress your immune system. Medications that suppress or control your immune system are used in certain myelodysplastic syndromes to reduce your need for red blood cell transfusions.
  • Help people with a certain genetic abnormality. If your myelodysplastic syndrome is associated with a gene mutation called isolated del(5q), your doctor might recommend lenalidomide (Revlimid).
  • Treat infections. If your condition causes you to have infections, you’ll receive treatments to control them.

Bone marrow transplant

A bone marrow transplant, also known as a stem cell transplant, is the only treatment option that offers the potential of a cure for myelodysplastic syndromes. But this treatment carries a high risk of serious complications and it’s generally reserved for people who are healthy enough to endure it.

During a bone marrow transplant, high doses of chemotherapy drugs are used to clear out the defective blood cells from your bone marrow. Then the abnormal bone marrow stem cells are replaced with healthy, donated cells (allogeneic transplant).

In some situations, less intense chemotherapy drugs can be used to reduce the risks of bone marrow transplant for older adults and those who might not otherwise be considered for this treatment.