To diagnose myelodysplastic syndrome, your doctor may do the following:
- Ask you about your symptoms and history of other health problems.
- Do a physical exam to check for other possible causes of your symptoms.
- Take a sample of blood to count the different types of cells and examine the blood cells under a microscope.
- Take a sample of bone marrow for analysis. This requires inserting a special needle into the hip bone or breastbone to remove the sample.
- Performing a genetic analysis of cells from the bone marrow.
Treatment for myelodysplastic syndromes most often involves treatments to slow the progression of the disease and supportive care to help manage symptoms such as fatigue and to prevent bleeding and infections.
Blood transfusions can be used to replace red blood cells, white blood cells or platelets in people with myelodysplastic syndromes.
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 epoetin alfa (Epogen) or darbepoetin alfa (Aranesp), 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 reduce the risk of acute myelogenous leukemia.
- 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 gene mutation called isolated del(5q), your doctor may recommend lenalidomide (Revlimid). Lenalidomide may reduce the need for blood transfusions in people with this gene mutation.
Bone marrow stem cell transplant
During a bone marrow stem cell transplant, your defective blood cells are damaged using chemotherapy drugs. Then the abnormal bone marrow stem cells are replaced with healthy, donated cells (allogeneic transplant).
Most bone marrow stem cell transplants used to treat myelodysplastic syndromes are reduced-intensity or “mini” transplants. This means the chemotherapy drugs used before the transplant are less powerful than those used in standard transplants and are likely to cause fewer side effects.
Still, even reduced-intensity transplants carry a significant risk of side effects. For this reason, few people with myelodysplastic syndromes are candidates for bone marrow stem cell transplant.