Myelodysplastic Syndrome (MDS) | Symptoms & Causes

What are the symptoms of myelodysplastic syndrome?

Because myelodysplastic syndrome (MDS) is a disease of the bone marrow, initial symptoms are often related to abnormal bone marrow function. The bone marrow is responsible for producing the body's red blood cells, white blood cells and platelets. The most common presenting symptom is bleeding related to low platelet counts. However, in many children, MDS is discovered accidentally when a child is having a routine blood test for other reasons.

While your child may experience symptoms differently, the most common symptoms of MDS include:

  • Anemia: Anemia occurs when red blood cells are not produced properly or are produced in inadequate numbers, and the amount of oxygen-carrying protein hemoglobin is decreased. With anemia, the child may appear tired or pale and may breathe faster to compensate for the decreased ability to deliver oxygen to her body.
  • Bleeding: In MDS, platelets, which help stop bleeding, often are reduced. Therefore, patients with MDS may experience bruising or abnormal bleeding (prolonged nose bleeds, bleeding from the gums).
  • Infections: In many cases of MDS, the type of white blood cells that fight off bacterial infections (neutrophils) can be very low—a condition called neutropenia. Neutropenia may be the result of a failure of immature precursors in the bone marrow to mature, or an increase in blasts that crowds out normal cells in the bone marrow. In other cases of MDS, the white cell count can be unusually high. In either case, there are not enough normal healthy white blood cells present in the blood to fight infection. The child may have had repetitive infections or even serious infections with high fevers.

The symptoms of MDS may resemble other blood disorders or medical problems, some of which are very common and easy to treat, others of which could be more serious. The symptoms listed above are common presentations of the disease, but do not include all possible symptoms.

What causes MDS?

There are two different major categories of myelodysplastic syndrome (MDS), divided up by cause:

  • Primary MDS: The disease occurs with no known cause in previously healthy children.
  • Secondary MDS: The disease is caused by another condition. This group includes MDS resulting from previous chemotherapy or radiation therapy for another cancer. MDS also can be caused by inherited bone marrow failure disorders, such as Fanconi anemia. In rare cases, MDS and leukemia can run in families, called familial MDS. We have recently identified genetic changes that lead to familial MDS.

Some children with MDS have a chromosomal abnormality associated with the disease, most often involving chromosomes 7 and 8. However, these changes are not inherited from a parent. Instead, these abnormalities, which are thought to play a role in the development of MDS, arise on their own only within bone marrow cells and the blood cells they produce.

Sometimes, pediatric MDS can be associated with other rare conditions, such as inherited bone marrow failure disorders and other rare congenital disorders.