Myelodysplasia or MDS is a condition where the stem cells within the bone marrow have become damaged and although they grow and divide actively the bone marrow fails to produce enough cells in the circulation which results in in low blood counts.
There are a number of factors which will increase the risk of Myelodysplasia these include previous chemotherapy or radiation exposure. Exposure to some chemicals, solvents or heavy metals may also be important however for most people the cause is not known.
Patients often present with symptoms of anaemia such as feeling tired or a reduction in exercise tolerance. If anaemia gets more marked then people may experience shortness of breath and palpitations. People may also present with symptoms of bruising or bleeding or infections if the platelet count or white count are affected. Quite often it is identified before any symptoms develop after a routine blood count.
Making the diagnosis is based on blood tests and a bone marrow biopsy. This is were we take a small sample of bone marrow from the top of the pelvis or hip bone. In addition to looking at the marrow we also will look for genetic damage that gives us important information about prognosis and guides treatment.
Myelodysplasia is divided into several categories as shown here. If the red cells are the only cells to be affected the disease is described as a refractory anaemia if however the white cells or platelets are affected then it is described as a refractory cytopenia. Refractory anaemia or cytopenia with excess blasts reflects more advanced disease and the earlier forms of the disease may progress to this with time. Some forms such as refractory anemia with 5q minus are relatively uncommon but need to be identified as the treatment is different.
Other than the type of myelodysplasia the factors which will influence the prognosis are the level of immature cells (blasts) seen in the bone marrow and the results of the genetic studies.
The treatment of myelodyspasia will depend on the type and stage of the disease. Often people will simply need to be monitored. Supportive care is important keeping an eye on the risk of infections and with blood or platelet transfusions if required. All of this can be done in conjunction with the Oncology day Unit at the Nuffield Hospital Cambridge. We may also recommend erythropoietin which is a synthetic version of a natural hormone to stimulate red blood cell production in the marrow and reduce the need for transfusions. If the disease is more advanced then there may be a role for the drugs such as Azacitidine which can improve blood counts and slow the rate of progression of the disease. For some people stem cell or bone marrow transplantation is appropriate. The pre and post transplant care is frequently done at the Nuffield Hospital in Cambridge but transplants themselves are undertaken under our supervision in the JACIE accredited transplant unit at Addenbrookes.