Diagnosis

A correct diagnosis is essential to getting the right treatment - a complicated problem for a rare disease for which there is no test. Because doctors see so few MDS cases, they need to conduct a variety of tests to determine what the patient’s disease is and is not.

Doing a Medical History

To understand what is causing your symptoms and low blood counts, your doctor will start with a detailed medical history. Your doctor may ask:

  • What are your symptoms?
  • Have you been exposed to harmful chemicals, such as benzene?
  • Are you or were you ever a smoker?
  • Have you had chemotherapy or radiation treatments?

Providing your doctor with a detailed health history helps your doctor give you an accurate diagnosis.

Blood Tests

Doctors conduct several types of tests to help them create treatment plans for MDS patients. Blood test results and lab reports are something every patient should learn how to read.

Complete Blood Count (CBC)

One key test is a complete blood count (CBC). It uses a number of methods to measure how many of each blood cell type are in your blood sample. If the CBC shows a low number of red blood cells, white blood cells or platelets, your doctor may also do a blood smear test, which means examining your cells under a microscope.  

Getting a CBC on a regular basis is important for MDS patients. It allows doctors to monitor blood counts over time and compare them with previous results. Based on this record, doctors can determine a patient’s progress and refine treatment plans accordingly.   

Iron level

If you have anemia, your doctor may also check the level of iron in your blood. If a shortage of iron is causing anemia, it can be easily treated with iron supplements.

In some cases, blood tests may show that you have too much iron in your body. This is called iron overload. It can be caused by genetic conditions, or from getting lots of red blood cell transfusions. There are a number of treatments that can remove iron from your body.

EPO level

EPO, or erythropoietin, is a protein made by your kidneys. It is created in response to low oxygen levels in the body, typically caused by low red cell counts and anemia. EPO causes your bone marrow to make more red blood cells.

Your doctor will order an EPO level to see if a shortage could be causing your anemia. A low EPO level may indicate a problem other than MDS, or it may make anemia worse in people who have MDS. Your doctor may prescribe a man-made form of EPO if yours is low.

Vitamin B12 and folate levels

If you have red blood cells with an abnormal shape, size or look, your doctor will check the your blood levels of vitamin B12 and folate (folic acid). A shortage of these vitamins can cause dysplasia, or cells that are not normal. These abnormal looking cells don’t work right, and this can lead to anemia.

Bone Marrow Tests

A bone marrow sample is usually a simple 30-minute procedure. The doctor removes some bone marrow aspirate (liquid bone marrow), typically from the pelvic or breast bone, with a hollow needle. A solid piece of bone marrow is also removed for a bone marrow biopsy.

A bone marrow test is done for two main reasons:

  • To confirm an MDS diagnosis
  • To see if your MDS has stayed the same, improved or worsened since the last exam

The bone marrow test shows:

  • Exactly what types and amounts of cells your marrow is making
  • Levels of bone marrow blasts (immature white blood cells)
  • Damaged chromosomes (DNA) in bone marrow cells. These are called cytogenetic abnormalities, some of which are linked to specific MDS sub-types