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Myelodysplastic Syndrome (MDS): Information on Causes, Diagnosis & Treatments

Dysfunctional Blood Cells Cancer Myelodysplastic Syndrome (MDS) is a group of cancerous disorders often referred to as bone marrow failure disorder that develop from dysfunctional, or poorly formed, blood cells. The disorder generally occurs from the abnormal function of bone marrow where red blood cells, white blood cells, and platelets are made.

Scientists have yet to determine the primary cause of myelodysplastic syndrome, but it could be associated with some forms of treatment. Oncologists and hematologist are typically the medical professionals who treat individuals who are suffering from the syndrome or other forms of blood cancer.

Who Is at Risk for Myelodysplastic Syndrome?

While anyone of any age can acquire myelodysplastic syndrome, individual 65 years and older are more likely to develop the disorder. In addition, men are more likely to develop the bone marrow failure disorder compared to women.

Other known risk factors associated with the disease include:

  • Chemotherapy and Radiation Treatment – The risk of developing myelodysplastic syndrome increases significantly in individuals who have undergone chemotherapy or radiation therapy to treat some form of cancer.

  • Exposure to Specific Chemicals – Exposure to pesticides, tobacco smoke and some industrial chemicals including benzene have been linked to the development of myelodysplastic syndrome.

  • Exposure to Heavy Metals – Exposure to mercury and lead has been connected to increase the potential of developing the disorder.

Myelodysplastic syndrome is not a contagious disease that can be acquired through exposure to varying risk factors, especially being exposed to heavy metals, radiation, and some dangerous and harmful chemicals.

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What Causes Myelodysplastic Syndrome?

The disorder develops when an abnormality disrupts the normal production of white and red blood cells and platelets. The syndrome produces defective and immature blood cells instead of normal healthy cells that will mature, reproduce and die off. The abnormal cells caused by myelodysplastic syndrome instead died while in bone marrow or after entering the body's bloodstream.

At some point, the number of healthy blood cells will be outnumbered by unhealthy immature defective blood cells that will eventually cause some problems including excessive bleeding, uncontrollable infections, and/or anemia.

Researchers, scientists, and doctors classifying myelodysplastic syndrome in two distinct categories including:

  • Exposure-Related Myelodysplastic Syndrome – This category of the disease develops in response to exposure to radiation and chemicals used in cancer treatments or other chemical exposures as a secondary syndrome.

  • De Novo Myelodysplastic Syndrome – This category of the disease has no known cause but is often easier to treat than exposure-related myelodysplastic syndrome.

In addition to the two formal classifications, myelodysplastic syndrome is also categorized into subtypes based on the affected blood cells. These subtypes include:

  • Refractory Anemia with Ringed Sideroblasts

  • Refractory Anemia with Excess Blasts (Type 1 & Type 2)

  • Refractory Cytopenia with Unilineage Dysplasia

  • Refractory Cytopenia with Multi-Lineage Dysplasia

  • Myelodysplastic Syndrome Associated with Isolated Chromosome Abnormality

  • Unclassified Myelodysplastic Syndrome

There are numerous complications associated with myelodysplastic syndrome that include:

  • Increased Potential Risk of Cancer – Individuals with myelodysplastic syndrome will eventually develop some form of blood-associated cancer including leukemia.

  • Anemia – Individuals who suffer from myelodysplastic syndrome usually have reduced red blood cell counts which can develop into anemia causing overall fatigue and tiredness.

  • Uncontrollable Bleeding – Because the number of platelets is significantly reduced by the disorder, many individuals lack the platelets that are required clot blood during excessive bleeding.

  • Recurring Infections – The limited number of white blood cells in the body of patients with myelodysplastic syndrome increases the potential risk of them developing a serious infection.

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Common Symptoms

In its initial stages, myelodysplastic syndrome rarely presents symptoms of the disease. However, individuals with the most common symptoms associated with the syndrome will experience:

  • Fatigue

  • Constant tiredness caused by anemia

  • Frequent infections

  • Unusual or easy bleeding/bruising

  • Anemia-associated pallor (unusual paleness)

  • Shortness of breath

  • Petechiae – Tiny red spots appearing just under the skin due to bleeding

Some individuals have a minimal risk of developing the disease, meaning that the syndrome was progressing slowly or that is causing only mild to moderate anemia. Being at minimal risk also means that the abnormal blasts (defective cells) entering the bloodstream tend to the function more like normal cells.

Others are at higher risk because they have a significantly low number of red cells, white cells, or platelets. Higher risk individuals also have blasts cells that have not yet developed into functioning red cells, platelets and white cells. This includes individuals with defective glass cells that account for more than twenty percent of all the cells being produced and bone marrow. These include individuals who have been diagnosed with having acute myeloid leukemia.

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Diagnosing Myelodysplastic Syndrome

Myelodysplastic syndrome is often detected by the doctor through typical blood test that reveals a significantly reduced amount of red blood cells, white blood cells, and platelets. Verifying the disorder usually requires ruling out other conditions and diseases that have similar symptoms and causal effects. Usually, the doctor recommends numerous tests to accurately diagnose the condition. These could include:

  • Blood Tests – These tests will count the numbers of red and white blood cells along with platelets and identify the shape, size and appearance of the cells and a peripheral blood smear.

  • Biopsies and Aspiration Procedures – The doctor may remove a tiny portion of bone marrow to use a testing environment that was acquired through a long needle aspiration procedure or bone marrow biopsy. The medical professional will use a thin needle to aspirate (withdraw) tiny amounts of bone marrow liquid, usually from the hip bone. This is followed by removing a small section of bone and enclosed marrow to be examined in a laboratory setting to detect and identify any abnormalities.

The doctor will also perform a comprehensive physical examination and gather a complete medical history to rule out any other potential conditions or diseases.

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Myelodysplastic Syndrome Treatments

If myelodysplastic syndrome progresses, the disorder can develop into other serious conditions including acute myeloid leukemia. Other factors that directly affect the condition include the number of blasts found in bone marrow and whether the myelodysplastic syndrome developed after the patient has undergone cancer treatments.

The appropriate treatment is often decided by the type of disorder associated with myelodysplastic syndrome. In some cases, the doctor will just watchfully wait and monitor the disease during routine checkups if the patient is suffering only mild symptoms and the blood counts have stabilized. In cases that require more aggressive approaches, the doctor will likely recommend low intensity and high-intensity treatments that include:

  • Chemotherapy Medications commonly used to treat leukemia and other blood-forming cancers.

  • Immunosuppressive Therapy that treats the body's immune system to prevent it from attacking bone marrow and eventually rebuilt the body's blood count.

  • Iron Chelation Treatment that removes excessive iron from the bloodstream that is typically acquired through numerous transfusions.

  • Growth Factors that involve synthetic hormones that encourage the production of more healthy blood cells in bone marrow.

  • Combo Chemotherapy that involves a combination of chemotherapy treatments.

  • Stem Cell Transplant that has proven to cure myelodysplastic syndrome. This typically involves donor stem cells gathered from blood and bone marrow.

Because the condition involves low platelet and white blood cell counts, it is important to change lifestyle habits by routinely washing hands, thoroughly cooking food, especially fish and meat, and avoiding individuals who are ill.

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