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Myelodysplastic Syndromes


Disease: Myelodysplastic Syndromes Myelodysplastic Syndromes
Category: Blood diseases & tumors
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Disease Definition:

The group of disorders that are caused by poorly formed or dysfunctional blood cells is called myelodysplastic syndromes. When something goes wrong in the bone marrow, the spongy material inside the bones where blood cells are made, myelodysplastic syndromes occurs.

Myelodysplastic syndromes have no cure. Preventing or reducing complications of the disease and of treatments is the thing that treatment for myelodysplastic syndromes usually focuses on. Myelodysplastic syndromes are treated with a bone marrow transplant, which may help prolong life in certain cases.

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Prepared by: Scientific Section

Symptoms, Causes


In the early stages of the disease, myelodysplastic syndromes rarely cause signs and symptoms. In time, the following may be caused by myelodysplastic syndromes:  


  • Pinpoint-sized red spots just beneath the skin caused by bleeding (petechiae)
  • Frequent infections
  • Unusual paleness (pallor) due to anemia
  • Fatigue
  • Easy or unusual bruising or bleeding
  • Shortness of breath

When having any signs or symptoms that worry a person, he/she should make an appointment with the doctor.


When something happens to disrupt the orderly and controlled production of blood cells, myelodysplastic syndromes occurs. Blood cells are immature and defective in people with myelodysplastic syndromes, and instead of developing normally, they die in the bone marrow or just after entering the bloodstream. Leading to problems such as excess bleeding, infections and anemia, the number of immature, defective cells begins to surpass that of healthy blood cells over time.

Based on their cause, doctors divide myelodysplastic syndromes into two categories:

Myelodysplastic syndromes with no known cause:
The cause of these conditions is not known, they're called de novo myelodysplastic syndromes. De novo myelodysplastic syndromes are often more easily treated than are myelodysplastic syndromes with a known cause.

Myelodysplastic syndromes caused by chemicals and radiation:
"Secondary myelodysplastic syndromes" is the name of myelodysplastic syndromes that occur in response to chemical exposure, or in response to cancer treatments such as chemotherapy and radiation. It's often more difficult to treat secondary myelodysplastic syndromes.

Based on the type of cells involved, the World Health Organization divides myelodysplastic syndromes into subtypes. The following are included in myelodysplastic syndromes subtypes:

Myelodysplastic syndrome, unclassified:
There are reduced numbers of one of the three types of mature blood cells, and under a microscope, either the white blood cells or platelets look abnormal in this uncommon syndrome.

Refractory cytopenia with multilineage dysplasia:
Less than 1% of the cells in the bloodstream are immature cells (blasts) and two of the three types of blood cells are abnormal in this myelodysplastic syndrome.

Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality:
People with this syndrome have low numbers of red blood cells, and the cells have a specific defect in their DNA.

Refractory cytopenia with unilineage dysplasia:
One or two blood cell types are low in number in this type, and the red blood cells are the ones that are most commonly affected. Under the microscope, one type of blood cell appears abnormal.

Refractory anemia with excess blasts – types 1 and 2:
Any of the three types of cells, red blood cells, white blood cells or platelets may be low in number and appear abnormal under a microscope in both these syndromes.

Refractory anemia with ringed sideroblasts:
Existing red blood cells contain excess amounts of iron (ringed sideroblasts) in this type, which makes it different from refractory anemia.

The risk of myelodysplastic syndromes may increase due to several factors:

Exposure to certain chemicals:
Pesticides, tobacco smoke and industrial chemicals, such as benzene, are included in chemicals linked to myelodysplastic syndromes.

Older age:
Although anyone can develop myelodysplastic syndromes, these syndromes are rare in younger people. Additionally, most people with myelodysplastic syndromes are adults older than 60.

Exposure to heavy metals:
Mercury and lead are included in heavy metals linked to myelodysplastic syndrome.

Treatment with chemotherapy or radiation:
If a person has received chemotherapy or radiation (usually used to treat cancer), his/her risk of myelodysplastic syndromes is increased.

Being male:
Myelodysplastic syndromes are more likely to occur in men than in women.



The following are included in the complications of myelodysplastic syndromes:

Bleeding that won't stop:
Excessive bleeding that won't stop can be due to a lack of platelets in the blood that usually stop the bleeding.

Anemia, which can make one feel tired, can be caused by reduced numbers of red blood cells.

Increased risk of cancer:
Leukemia, which is cancer of the blood cells, may eventually develop in some people with myelodysplastic syndromes.

Recurrent infections:
The risk of serious infections increases if someone has too few white blood cells.


myelodysplastic syndromes have no definitive cure or treatment. To prevent bleeding and infection and to help manage symptoms such as fatigue, most people receive supportive care.

To replace red blood cells, white blood cells or platelets in people with myelodysplastic syndromes, blood transfusions can be used.

To increase the number of healthy blood cells the body produces, the following medications can be used:

In certain myelodysplastic syndromes, medications that suppress the immune system may be used.

Medications for people with a certain genetic abnormality:
Lenalidomide may be recommended if the myelodysplastic syndrome in the patient is associated with a genetic abnormality called isolated del(5q). In people with this abnormality, lenalidomide may reduce the need for blood transfusions.

Medications that increase the number of blood cells the body makes:
These medications are artificial versions of substances found naturally in the bone marrow, and they are called growth factors. By increasing white blood cells in people with certain myelodysplastic syndromes, some growth factors may help prevent infections. By increasing red blood cells, the need for blood transfusions is reduced by some growth factors, such as darbepoietin or erythropoietin.

Medications that stimulate blood cells to mature, rather than remain immature:
The quality of life of people with certain myelodysplastic syndromes may be improved and the progression to acute myelogenous leukemia may be delayed by medications such as decitabine and azacitidine. However, some of these drugs can cause further blood cell problems, and these drugs aren't effective in all people.

Using powerful chemotherapy drugs, the defective blood cells of the patient are destroyed during a bone marrow stem cell transplant. After that, healthy, donated cells (allogeneic transplant) are put instead of the abnormal bone marrow stem cells. The sad thing is that because of the high risks involved in transplanting in older adults, those most likely to have myelodysplastic syndromes, few people are candidates for this procedure. Additionally, the number of transplant-related complications is high even among young relatively healthy people.


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