Myelodysplastic Syndrome Diagnosis

Myelodysplastic syndrome (MDS) is somewhat difficult to diagnose because it has symptoms that closely resemble the signs of aplastic anemia, leukemia, HIV infection, malfunctioning immune system, and rheumatoid arthritis. Oftentimes, MDS is misdiagnosed as one of these diseases. It is important to get a correct diagnosis of MDS at the earliest possible time because effective treatment cannot be given when disease is not properly diagnosed.

What are the Tests Used to Diagnose MDS?

Uncontrolled bleeding can be a sign of myelodysplastic syndrome but the doctors must be sure so certain clinical examinations must be performed first to diagnose MDS definitely. Getting a correct diagnosis is very important on finding the effective treatment for the patient. MDS patients can only be properly diagnosed after they have been thoroughly examined by expert hematologists or hemato-pathologists.

Common clinical tests include: complete blood cell count (CBC) and examination, bone marrow biopsy and aspiration, and close examinations of chromosomes.

CBC and Examination

The CBC test measures the amount of different types of blood cells (red, white, and platelets). The examination uses a smear, which is a glass slide spread with small amount of blood, observed under the microscope to see how these cells look. Patients with MDS are often characterized by having very few red blood cells. When abnormalities are noted, the next to examine is a sample of bone marrow cells.

Bone Marrow Biopsy and Aspiration

The bone marrow aspiration is the process of inserting a thin and hollow needle into the bone to suck out a small amount of liquid marrow. The marrow biopsy, usually done right after, is the process of removing a small piece of bone and marrow by pushing a large and twisted needle into the bone.

The size and shape of the cells will determine whether red blood cells contain iron particles or white blood cells contain granules. The bone marrow stem cells produce blasts, which will eventually mature into any of the three types of blood cells (red, white, and platelets). In MDS, these blasts do not mature properly so there may be a number of blasts in the marrow sample.

Other Tests

These other tests are performed in biopsied marrow tissue to determine specific features of the cells such as genetic abnormalities (chromosomal rearrangements) that are common in MDS.

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