What is Myelodysplasia?
Myelodysplastic (my-low-dis-PLAS-tic) Syndrome
Your bone marrow, the spongy tissue located in the center of your bones, contains the stem cells from which all other specialized cells in your body are formed. The stem cells in your bone marrow are what create the new blood cells your body needs. But in people who suffer from myelodysplastic syndromes or myelodysplasia, the stem cells don't function properly. The lack of healthy, new blood cells and platelets can be minimal or so serious that it causes potentially life-threatening complications. Some paients are treated with medications only while others also need blood and platelet transfusions. Tami had a very severe type of MDS that upon diagnosis required a marrow or stem cell transplant.
Patients with MDS have to worry that general infections (like the common cold) can become life threatening due to their immune systems being compromised by their lowered white blood cell counts. A simple cut can cause hemmoraghing or patients can suffer from internal bleeding due to their reduced blood platelet counts. For 1 of 3 patients one of the most worrisome aspects of MDS is that within months or years of diagnosis MDS progresses to become acute myeloid leukemia. So there is a definite sense of urgency in finding a match for her before any of these things happen.
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In the early stages, many patients with MDS have no symptoms. But a blood test may show reduced levels of red blood cells and maybe reduced white blood cells or platelets. Some patients have symptoms related to their low blood cell counts, such as:
Shortness of breath
Infections that won’t resolve
Symptoms can range from mild to severe. One person with MDS may have different or more or less severe symptoms than another person with the same disease.
To find out whether you have MDS, your doctor will first do a thorough physical exam and ask about your health history. Next the doctor will perform a series of blood tests to tell whether any blood cells are unhealthy and, if so, which type. Common blood tests include the following:
• Complete blood cell count, or CBC: determines how many cells of each type are circulating in the blood stream
• Peripheral blood smear: looks at the appearance of the blood cells
• Blood chemistry: looks for abnormalities in the blood, including certain enzymes, iron level, and others
For a definitive diagnosis, doctors will need to perform a bone marrow aspiration and sometimes also a bone marrow biopsy. For this purpose a small area of skin over the lower back (pelvis) is cleaned and numbed. Then a marrow needle is used to withdraw bone marrow. If a biopsy is performed, the doctor uses a different needle to punch out a small piece of the bone marrow (a marrow core). In either case, the sample will be examined under a microscope, to determine the presence and number of abnormal cells in the marrow.
In addition, marrow cells will be examined for the presence of abnormal chromosomes (cytogenetics). Doctors use the number and type of chromosome abnormalities to help predict how the disease will progress and which types of treatment might be most effective. Chromosomes provide the instructions for how our cells function.