Myelodysplastic syndrome
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Myelodysplastic Syndrome (MDS) is formerly known as preleukemia. It is a collection of heterogeneous hematopoietic disorder. The disorders that belong to this group are characterized by either a hypo cellular or hyper cellular marrow with its maturation and morphology impaired. Simply put, they are conditions that have resulted due to ineffective production of blood cells.


There are 5 types of MDS according to the French American British Classification. These are Refractory Anemia with excess blasts, Refractory Anemia, Refractory Anemia with excess blasts in transformation, Refractory Anemia with ringed sideroblasts, and Chronic myelomonocytic leukemia.

Myelodysplastic syndrome is a clonal disorder. The exact defect accountable for the diseases is not fully understood. It is suggested however that it is caused by mutations in the multi-potent bone marrow stem cell. Cell differentiation of blood precursor cells is damaged and an increase in the levels of apoptosis of bone marrow cells is observed. This is a precursor of leukemia as a result of the clonal expansion of abnormal cells that are not able to differentiate – normal cells transform and mutate into cancer cells.

Cytopenia occurs in the early stages of MDS because of the increase of automatic cell death (apoptosis). Before the newly created cells can go to the blood stream, they self destruct and this causes anemia. As the MDS progresses, a gene mutation can occur which causes the proliferation of leukemic cells. The increase of leukemic cells will then overwhelm the marrow – the transition from MDS to leukemia.


One of the main causes of MDS is aggressive treatment of different cancers especially those that needed exposure to alkylating agents and radiation. This is also why Myelodysplastic syndrome is considered as a very rare disease. Due to its rarity, the frequency of the incidence of myelodysplastic syndrome is not known.

Among the known cases of MDS, it has been noted that the disease was predominant in males and that it mostly affects the elderly. People who have myelodysplastic syndrome are those who are usually with ages 65 and above. But it can, in very, very rare cases, occur in pediatric patients.


The prognosis for the disease differs on a case to case basis. It all depends on the severity and the staging of the disease. Staging is based on points that depend on the 3 prognostic variables: percentage of bone marrow blasts, karyotype and cytopenias.


The manifestations of MDS are observable through the different abnormalities it causes to the blood. Some of these manifestations include thrombocytopenia, anemia, and neutropenia. The most common among the three is anemia. And because of anemia, a person suffering from myelodysplastic syndrome may feel fatigue accompanied by lightheadedness. Anemia may also cause skin as well as mucosal membrane pallor, tachycardia and even congestive heart failure.
myelodysplastic syndrome
Image: Myelodysplastic syndrome

Bleeding under the skin can occur which will result to petechiae and ecchymoses. Gum bleeding and nose bleeding is also possible due to thrombocytopenia. Neutropenia could result to the presence of infections such as urinary tract infections and pneumonia as evidenced by fever.

Since the signs and symptoms of MDS can also be indications for other hematologic diseases, there are different laboratory examinations and workup that are done to establish whether a person indeed has the disease. This process is also very important to differentiate MDS from other diseases such as leucopenia, thrombocytopenia and anemia.

A person suspected of MDS will undergo lab workups such as blood tests, bone marrow examination which include bone marrow aspiration and biopsy, cytogenetics, and flow cytometry.


The initial treatment for myelodysplastic syndrome is the replacement of lost blood component (platelets and RBC). This is done through blood transfusion. If complications such as infections arise, these too will be treated immediately. A treatment to increase the production of bone marrow cells and decrease apoptosis are also given. These, however, are treatments that take care of the symptoms to at least improve the quality of life of the patient.

Splenectomy is another treatment given to patients who are experiencing the complication of spleen enlargement (splenomegaly).

Medication for treatment would also differ from patient to patient. A mix of retinoids, hematopoietic growth factors, demethylation agents, and immodulators are used to treat patients with MDS. For those patients who have a really poor prognosis, they may opt for bone marrow transplantation provided that they have a compatible donor. As of today, there is still an ongoing experimentation of which treatments are best suited for myelodysplastic syndrome.

As have been stated, MDS is a very rare disease. It is caused by a mutation in the cells of the bone marrow which is usually triggered by treatments from other disease that require exposure to radiation. Although occurrence of myelodysplastic syndrome is possible without any predisposing factors, it is actually really very rare.


So to prevent MDS from happening, it is best to stay away from radiation or treatment that has the possibility to mutate cells. If a person has undergone any treatment of this kind, he or she should undergo screening just to check whether any complication such as myelodysplastic syndrome has occurred. The most important thing when it comes to MDS is that the disease is detected and treated early.

Of course it is also a given that a person should live a healthy lifestyle free of any health hazardous vices such as smoking and excessive drinking of alcohol. Proper diet and nutrition is a plus. Intake of different vitamins and supplements can also strengthen the body's immune system. The truth of the matter is, myelodysplastic syndrome is quite difficult to prevent. But it would really help if a person would follow a path of healthy living.
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