Myelodysplastic Syndromes

Myelodysplastic syndromes are group of diseases of blood and bone marrow (stem cells), a collection of hematological conditions characterized by hampered production of myeloid blood cells, it also involves problems related to blood production (hematopoiesis) characterized by defects in blood-forming cells (hematopoietic cells). During the course of this disorder, bone marrow failure causes worsened cytopenias. Almost 35% patients suffering from Myelodysplastic syndrome develop Acute Myelogenous Leukemia in due course of time (varying from couple of months to few years).

As already mentioned above Myelodysplastic syndrome is a collection of diseases, which includes:
Refractory anemia (RA)
Refractory anemia with ringed sideroblasts (RARS)
Refractory anemia with excess blasts (RAEB)
Refractory anemia with excess blasts in transformation (RAEB-T)
Refractory cytopenia with multilineage dysplasia (RCMD)
Chronic myelomonocytic leukemia (CMML)

What causes Myelodysplastic Syndrome?

Although the exact causes of Myelodysplastic syndrome are still unknown, there are some probable causes identified which may lead to MDS, they are:
Over exposure of toxic chemicals (pesticides, insecticides, fungicides, chemical compounds like benzene etc.) or radiation to our body is the main cause of development of Myelodysplastic syndrome. People undergoing cancer treatment such as radiation and chemotherapy and use of radiomimetic alkylating agents develop secondary Myelodysplastic syndrome as an effect of late toxicity caused by the treatment.

Along with the above mentioned causes; smoking, congenital diseases (such as Fanconi Anemia), inheritance at some extent and age are some more possible causes of Myelodysplastic syndrome in people.

Due to the above mentioned causes and some unknown reasons mutation in multi-potent bone marrow stem cells may occur leading to Myelodysplastic syndrome.

What are the symptoms of Myelodysplastic syndrome?

Signs and symptoms of Myelodysplastic syndrome are not very conclusive as they are non-specific and may vary from patient to patient:
Shorter breathes, chronic tiredness/weakness, chilled sensations and periodic chest pain
Enlargement of liver (also known as hepatomegaly), enlargement of spleen (known as splenomegaly) in some cases
Paler skin and development of spots under the skin due to bleeding (known as petechiae or ecchymoses)
In some cases fever, dyspnea, cough and frequent infections are also part of symptoms
Formation of abnormal granules in blood
Abnormality with chromosomes such as number of chromosomes (may increase or decrease abnormally) and chromosomal translocation etc.
Decrease in neutrophil count (also known as neutropenia), low blood cell count of white blood cells, red blood (anemia) cells and platelets (thrombocytopenia characterized by gum bleeding).
Blood in stool in some cases

How Myelodysplastic syndrome is diagnosed?

As mentioned above, symptoms related to Myelodysplastic syndrome are not very conclusive, which leads to a condition in which it becomes hard to confirm the syndrome just by observing the symptoms. Blood cell counts test (Complete Blood Count (CBC) to count number of white blood cells, red blood cells, platelets etc., Peripheral blood smear test etc.), patient’s medical history such as treatment involving chemotherapy and radiation therapy and family history to confirm inheritance and patient’s social/work history to check if he/she is anywhere exposed to chemicals thought to cause MDS, physical examination of patient, Cytogenetic Analysis (blood cells are examined for changes in chromosomes), Bone Marrow Aspiration and Biopsy to check existence of abnormal cells, Cytochemistry test, Cytogenetics test for chromosomes count, Flow Cytometry, Immunocytochemistry and Molecular Genetic Studies etc. tests/procedures are used to diagnose Myelodysplastic syndrome.