What is Myelodysplastic Syndrome (MDS)?

Myelodysplastic syndrome (MDS) occurs when young blood cells in the bone marrow do not develop properly into healthy white cells, red blood cells or platelets.

This leads to a shortage of healthy white cells (which fight infection), red blood cells (which carry oxygen) or platelets (which help your blood clot when needed).

MDS is a type of cancer. The treatment often depends on which cells are affected and how low the number of white cells, red cell or platelets are.

Over time, MDS can progress into acute myeloid leukemia (AML).

Myelodysplastic Syndrome Causes

Doctors do not know exactly what causes MDS, but certain circumstances may increase your risk of getting it. These include:

• Undergoing chemotherapy or radiation therapy for cancer
• Having a family history of MDS or AML
• Having certain inherited or acquired chromosome disorders, such as:
  • Down syndrome
  • Aplastic anemia
  • Fanconi anemia
  • Neurofibromatosis type 1
  • Noonan syndrome
  • Shwachman-Diamond syndrome
  • Severe congenital neutropenia
  • Li-Fraumeni syndrome
  • Dyskeratosis congenita
  • Amegakaryocytic thrombocytopenia or familial thrombocytopenia

Myelodysplastic Syndrome Symptoms

The early symptoms of MDS usually occur over a number of days or weeks. Many are similar to those of the flu, but if you experience several of these symptoms at once, it may be cause for concern. Symptoms include:

• Fatigue and weakness
• Pale appearance
• Easy bruising or bleeding, such as nosebleeds or heavy menstrual periods
• Fever and infections
• Aches and pains in the bones
• A swollen belly (from an enlarged spleen or liver)

Myelodysplastic Syndrome Diagnosis

If your doctor suspects MDS, the first step is to do a physical exam and a blood test. Additional tests help the medical team make a more detailed diagnosis and develop a personalized treatment plan. Diagnostic procedures for MDS include:

• Bone marrow aspiration and biopsy: While you are under general anesthesia, a special hollow needle is used to remove a bone marrow sample, which is then examined under the microscope for abnormalities.
• Complete blood count (CBC): A blood sample is drawn and tested to look at the size, number and stage of growth of different blood cells.
• Additional blood tests: These may include blood chemical levels, liver and kidney tests and genetic tests.

Myelodysplastic Syndrome Treatment

Treatment usually begins by taking care of the early symptoms you are experiencing, often anemia (too few red blood cells), bleeding (too few platelets) and/or infection (too few white blood cells). Treatment for MDS may also include:

• Chemotherapy: Medicines are given by mouth or through an IV (intravenously). These drugs target the abnormal cells. Side effects are common because these strong drugs can also harm some normal cells.
• Blood and bone marrow / stem cell transplantation: First, high-dose chemotherapy, and possibly radiation, are given to destroy the abnormal cells in the bone marrow. Fresh, healthy stem cells are then needed to replace the bone marrow cells that have been killed. To do this, donor stem cells are given by IV. From the blood stream, they make their way to the bone marrow. These fresh stem cells then start making normal white blood cells, red blood cells and platelets.
• Medicines: You may receive drugs to prevent or treat side effects of AML treatment. Medicines can also help with nausea or pain.