Myelodysplastic syndromes are a group of disorders caused by poorly formed or dysfunctional blood cells. Myelodysplastic syndromes occur when something goes wrong in your bone marrow — the spongy material inside your bones where blood cells are made. There is no cure for myelodysplastic syndromes. Treatment for myelodysplastic syndromes usually focuses on reducing or preventing complications of the disease and of treatments. In certain cases, myelodysplastic syndromes are treated with a bone marrow transplant, which may help prolong life.

Complications of Myelodysplastic Syndrome

Complications of myelodysplastic syndromes include:

• Anemia. Reduced numbers of red blood cells can cause anemia, which can make you feel tired.
• Recurrent infections. Having too few white blood cells increases your risk of serious infections.
• Bleeding that won't stop. Lacking platelets in your blood to stop bleeding can lead to excessive bleeding that won't stop.
• Increased risk of cancer. Some people with myelodysplastic syndromes may eventually develop leukemia, a cancer of the blood cells.

Causes of Myelodysplastic Syndrome

Myelodysplastic syndromes occur when something happens to disrupt the orderly and controlled production of blood cells. People with myelodysplastic syndromes have blood cells that are immature and defective, and instead of developing normally, they die in the bone marrow or just after entering your bloodstream. Over time, the number of immature, defective cells begins to surpass that of healthy blood cells, leading to problems such as anemia, infections and excess bleeding.

Doctors divide myelodysplastic syndromes into two categories based on their cause:

• Myelodysplastic syndromes with no known cause. Called de novo myelodysplastic syndromes, doctors don't know what causes these. De novo myelodysplastic syndromes are often more easily treated than are myelodysplastic syndromes with a known cause.
• Myelodysplastic syndromes caused by chemicals and radiation. Myelodysplastic syndromes that occur in response to cancer treatments, such as chemotherapy and radiation, or in response to chemical exposure are called secondary myelodysplastic syndromes. Secondary myelodysplastic syndromes are often more difficult to treat.

Signs & Symptoms of Myelodysplastic Syndrome

Myelodysplastic syndromes rarely cause signs or symptoms in the early stages of the disease. In time, myelodysplastic syndromes may cause:

• Fatigue
• Shortness of breath
• Unusual paleness (pallor) due to anemia
• Easy or unusual bruising or bleeding
• Pinpoint-sized red spots just beneath your skin caused by bleeding (petechiae)
• Frequent infections

Diagnosis of Myelodysplastic Syndrome

If abnormal numbers of blood cells have been detected in your blood, your doctor may begin with tests and procedures to rule out diseases and conditions other than myelodysplastic syndromes that have similar signs and symptoms.

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

• 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).
• Removing bone marrow for testing. During a bone marrow biopsy and aspiration, a doctor or nurse 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.

Treatments of Myelodysplastic Syndrome

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

Medications used to increase the number of healthy blood cells your body produces 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. Some growth factors, such as erythropoietin or darbepoietin, can reduce the need for blood transfusions by increasing red blood cells. Others may help prevent infections by increasing white blood cells in people with certain myelodysplastic syndromes.
• Medications that stimulate blood cells to mature, rather than remain immature. Medications such as azacitidine (Vidaza) and decitabine (Dacogen) may improve the quality of life of people with certain myelodysplastic syndromes and help delay progression to acute myelogenous leukemia. But these drugs aren't effective in all people, and some can cause further blood cell problems.
• Medications that suppress your immune system. Medications used to suppress the immune system may be used in certain myelodysplastic syndromes.
• Medication for people with a certain genetic abnormality. If your myelodysplastic syndrome is associated with a genetic abnormality called isolated Del (5q), your doctor may recommend lenalidomide (Revlimid). Lenalidomide may reduce the need for blood transfusions in people with this abnormality.

Bone marrow stem cell transplant

During a bone marrow stem cell transplant, your defective blood cells are destroyed using powerful chemotherapy drugs. Then the abnormal bone marrow stem cells are replaced with healthy, donated cells (allogeneic transplant). Unfortunately, few people are candidates for this procedure because of the high risks involved in transplanting in older adults — those most likely to have myelodysplastic syndromes. Even among young, relatively healthy people, the number of transplant-related complications is high.

When to seek Medical Advice

Make an appointment with your doctor if you have any signs or symptoms that worry you.