Myelodysplastic syndromes

What is myelodysplastic syndrome?

Myelodysplastic syndromes, also known as myelodysplasia, are a group of cancers that prevent your blood stem cells from maturing into healthy blood cells. Myelodysplasia is another name for myelodysplastic syndromes. Myelodysplastic syndromes are a group of disorders that can result in serious conditions like anaemia, frequent infections, and bleeding that won’t stop. MDS patients have an increased risk of developing acute myeloid leukaemia. If you have MDS, your healthcare providers will focus treatment on reducing the severity of your symptoms, treating conditions that are caused by MDS, and slowing the progression of the disease.

Signs and symptoms

In many cases, myelodysplastic syndromes do not produce any early warning signs or symptoms. A simple blood test might turn up evidence of their presence. Myelodysplastic syndromes and other conditions could both be the root cause of the signs and symptoms. Consult your primary care physician if you have any of the following conditions:

  • Fatigue
  • Shortness of breath
  • Unusual paleness (pallor), which occurs due to a low red blood cell count (anemia)
  • Easy or unusual bruising or bleeding, which occurs due to a low blood platelet count (thrombocytopenia)
  • Pinpoint-sized red spots just beneath the skin that are caused by bleeding (petechiae)
  • Frequent infections, which occur due to a low white blood cell count (leukopenia)

Causes of myelodysplastic syndromes

When a person is healthy, their bone marrow will produce new, immature blood cells, which will eventually develop into mature blood cells. Myelodysplastic syndromes are brought on by anything that interferes with this process and prevents the maturation of the blood cells.

The blood cells, rather than developing normally, perish in the bone marrow or shortly after entering the bloodstream. Over time, there are more immature and defective cells than healthy ones, leading to issues such as fatigue caused by too few healthy red blood cells (anaemia), infections caused by too few healthy white blood cells (leukopenia), and bleeding caused by too few blood-clotting platelets. These issues are brought on because there are more immature and defective cells than there are healthy ones (thrombocytopenia).

The majority of myelodysplastic syndromes do not have a clearly defined cause. Some are brought on by the administration of cancer treatments like chemotherapy and radiation, while others are brought on by contact with toxic chemicals like benzene.


The World Health Organization divides myelodysplastic syndromes into subtypes based on the type of blood cells — red cells, white cells and platelets — involved.

Myelodysplastic syndrome subtypes include:

  • Myelodysplastic syndromes with single-lineage dysplasia. One blood cell type — white blood cells, red blood cells or platelets — is low in number and appears abnormal under the microscope.
  • Myelodysplastic syndromes with multilineage dysplasia. In this subtype, two or three blood cell types are abnormal.
  • Myelodysplastic syndromes with ring sideroblasts. This subtype involves a low number of one or more blood cell types. A characteristic feature is that existing red blood cells in the bone marrow contain rings of excess iron.
  • Myelodysplastic syndromes with isolated del(5q) chromosome abnormality. People with this subtype have low numbers of red blood cells, and the cells have a specific mutation in their DNA.
  • Myelodysplastic syndromes with excess blasts. In this subtype, any of the three types of blood cells — red blood cells, white blood cells or platelets — might be low and appear abnormal under a microscope. Very immature blood cells (blasts) are found in the blood and bone marrow.
  • Myelodysplastic syndromes, unclassifiable. In this subtype, there are reduced numbers of one or more types of mature blood cells and the cells might look abnormal under the microscope. Sometimes the blood cells appear normal, but analysis might find that the cells have DNA changes that are associated with myelodysplastic syndromes.

Risk factors

Factors that can increase your risk of myelodysplastic syndromes include:

  • Older age. Most people with myelodysplastic syndromes are older than 60.
  • Previous treatment with chemotherapy or radiation. Chemotherapy or radiation therapy, both of which are commonly used to treat cancer, can increase your risk of myelodysplastic syndromes.
  • Exposure to certain chemicals. Chemicals, including benzene, have been linked to myelodysplastic syndromes.


Providers take several steps to diagnose myelodysplastic syndromes, starting with blood and bone marrow tests. Here are some tests they may do:

  • Complete blood count (CBC) with differential. Your provider will draw blood samples to analyze your red and white blood cells, including counting the number of each white blood cell type.
  • Peripheral blood smear. They’ll check your blood sample for changes in the number, type, shape, and size of blood cells and if you have too much iron in your red blood cells.
  • Cytogenetic analysis. Your provider may view your blood sample under a microscope, looking for changes in your blood cell chromosomes. Chromosomes are the parts of our cells that contain genes. Genes are made of DNA. Unusual chromosomes may mean something has affected your DNA, causing changes in your blood cell chromosomes.
  • Bone marrow aspiration and biopsy. To do this procedure, your provider inserts a hollow needle into your hipbone to remove bone marrow, blood, and a small piece of bone for examination under a microscope.

Treatment of myelodysplastic syndromes

The goal of treatment for myelodysplastic syndromes is typically to slow the progression of the disease, improve symptoms, and protect against complications. There is currently no treatment that can reverse the effects of myelodysplastic syndromes, but certain medications can help slow the disease’s progression.

It is possible that treatment is not required right away if there are no symptoms present. Instead, your doctor may suggest scheduling routine checkups and lab tests in order to keep track of your condition and determine whether or not the disease is progressing.

Ongoing investigation into myelodysplastic syndromes is being carried out. Talk to your primary care physician about participating in any clinical trials that might be appropriate for you.

Healthcare providers may use chemotherapy, immunosuppressive therapy or stem cell transplants to kill unhealthy blood cells. Here is information on those treatments:

  • Chemotherapy: Healthcare providers may use the same chemotherapy that’s used to treat AML.
  • Immunosuppressive therapy: Providers may use this treatment for certain MDS subtypes. Immunosuppressive therapy suppresses overactive immune systems and may help reduce the need for transfusions.
  • Stem cell transplant: Myelodysplastic syndromes are only treatable through a procedure called a bone marrow transplant, which is also referred to as a stem cell transplant. This is the only treatment option that carries the possibility of curing the condition. However, because of the high likelihood of developing serious side effects, this treatment is typically reserved for patients who are in good enough health to withstand its effects.High doses of chemotherapy drugs are typically administered to patients undergoing a bone marrow transplant in order to eradicate any abnormal blood cells that may be present in their bone marrow. The damaged stem cells in the bone marrow are then exchanged for healthy cells that have been donated (allogeneic transplant).It is possible, in certain circumstances, to use chemotherapy drugs of a lower intensity in order to lessen the risks associated with bone marrow transplantation for elderly patients and other patients who would not normally be considered for this treatment.

These treatments have different side effects and complications. As you’re thinking about treatment options, ask your healthcare provider about each option’s side effects and complications.

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  • July 14th, 2022


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