Myelodysplastic Syndrome (MDS)

What is Myelodysplastic Syndrome and its causes? 

Myelodysplastic syndrome encompasses multiple conditions that result from blood cells that do not function properly. Normally, the bone marrow produces blood cells that are immature that then mature with time. However, in myelodysplastic syndrome, the bone marrow produces abnormal, otherwise known as dysplastic, immature blood cells that do not mature. In turn, defective cells result. The lifetime of these flawed cells is significantly lower, which causes a deficiency in blood cells. Additionally, MDS can be caused by mutations in the DNA of the cells within the bone marrow. The myelodysplastic syndrome can lead to acute myeloid leukemia (AML). 

What are the risk factors for Myelodysplastic Syndrome? 

The potential risk factors for the myelodysplastic syndrome are age (common amongst 70-80-year-old individuals), male sex, prior chemotherapy or radiation therapy, smoking, family history, previous exposure to chemicals such as benzene, and metals such as lead or mercury. 

What are the signs and symptoms of Myelodysplastic Syndrome? 

It is imperative to note that in the early stages of myelodysplastic syndrome, many of the potential future manifestations are not present. However, the probable symptoms one may experience include shortness of breath, pallor, weight loss, fever, bone pains, fatigue, decreased appetite, petechiae, anemia, low platelet counts known as thrombocytopenia, and low white blood cell count, leukopenia, which could result in other infections. 

How is Myelodysplastic Syndrome diagnosed? 

Myelodysplastic syndrome is diagnosed based on a patient’s signs and symptoms, which leads to further examination and testing. A CBC, complete blood count, will be ordered to quantitatively measure the blood cells in one’s blood. A blood smear can also be conducted. A bone marrow biopsy results in a definitive diagnosis. Patients with MDS have anemia (decreased red blood cell count), thrombocytopenia (low platelet count) and leukopenia (low white blood cell count). In addition, myeloblasts may be noted in one’s blood, which are immature cells usually located in the bone marrow. MDS has less than 20% myeloblasts. If a greater percentage is noted, then further studies will be conducted for Acute Myeloid Leukemia (AML). 

However, early detection can be noted through a routine complete blood count blood test prior to the manifestation of signs and symptoms. 

What are the treatment options for Myelodysplastic Syndrome? 

Treatment has a goal in decreasing and diminishing potential complications of myelodysplastic syndrome and potential side effects of treatment. The treatment of MDS is through chemotherapy. Potential chemotherapy medications that are utilized include Cytarabine, Azacitidine or Decitabine. Treatments include correcting underlying anemia with erythropoietin injections to increase red blood cell production, or possibly a blood cell transfusion. In the event that these two approaches are unsuccessful, then luspatercept may be utilized. This medication helps to mature red blood cells. For thrombocytopenia, platelet transfusions may be initiated or an antifibrinolytic medication known as Amicar. For leukopenia, treatment and management of possible infections should be conducted as well as the medication pegfilgrastim can be initiated.

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