Myelodysplastic Syndrome (Myelodysplasia)
What are myelodysplastic syndromes (MDS)?
Myelodysplastic syndromes (also called myelodysplasia) are a group of cancers that keep your blood stem cells from maturing into healthy blood cells. Myelodysplastic syndromes can cause serious conditions such as anemia, frequent infections and bleeding that won’t stop. Some people with MDS may develop acute myeloid leukemia. If you have MDS, your healthcare providers will focus treatment on slowing its progress, easing your symptoms and treating conditions that stem from MDS.
How does MDS develop?
MDS develops when something goes wrong with your blood cell production. Blood cells are made in your bone marrow, which is the soft spongy material in the center of your bones. Your bone marrow manages blood cell production, nurturing blood stem cells and moving mature blood cells out into your body.
Myelodysplastic syndromes happen when your blood stem cells don’t mature into healthy blood cells. Instead, these stem cells end up dying in your bone marrow or soon after they enter your bloodstream. In a sense, your bone marrow is like a shopkeeper who needs to keep perishable items moving so they can sell new items. When that doesn’t happen, the shopkeeper can’t add items.
Likewise, when your stem cells don’t mature and leave the marrow, there’s less room for healthy cells. Having fewer blood cells than normal increases the chance you’ll develop serious health problems.
What do my different blood cells do?
Blood stem cells are immature cells that can give rise to several different cell types. Blood stem cells are supposed to mature into myeloid stem cells or lymphoid stem cells. A lymphoid stem cell becomes a type of white blood cell. A myeloid stem cell becomes one of three kinds of blood cells:
- Red blood cells carry oxygen and other substances to all tissues of your body. You can develop anemia if you don’t have enough red blood cells.
- White blood cells fight infection and disease. Without adequate white blood cells, you may develop recurring infections.
- Platelets keep you from bleeding more than usual. The condition when platelets are lower than normal is called thrombocytopenia.
Who is affected by myelodysplastic syndromes?
Approximately 20,000 people are diagnosed with myelodysplastic syndromes each year. MDS affects approximately 27 in 100,000 people ages 70 to 79 and 55 per 100,000 people ages 80 and older. Children and young adults can develop myelodysplastic syndromes, but that doesn’t happen very often. Fewer than 4 children or young adults per 1 million develop MDS. Here’s more information about who may be more likely to develop myelodysplastic syndrome:
- People who are born male at birth are more likely than people who are born female at birth to develop myelodysplastic syndromes.
- People who are white are more likely than people of color to develop myelodysplastic syndromes.
Symptoms and Causes
What are the symptoms of myelodysplastic syndrome?
You can have MDS without having any symptoms. Sometimes people learn they have the syndrome after having routine blood tests. Anemia is the most common symptom of myelodysplastic syndrome. But anemia symptoms and other MDS symptoms can resemble other less serious conditions. Check with your healthcare provider if you notice the following changes, particularly if they don’t go away within a few weeks:
- You feel as if you can’t quite catch your breath.
- You feel weak or very tired, and resting doesn’t make you feel less tired.
- You notice your skin is more pale than usual. If you have dark skin, your healthcare provider may check your inner eyelids and your mucous membranes for loss of color.
- You bruise or bleed more frequently than usual.
- You notice you have pinpoint-sized spots on your skin. This may be a sign you have petechiae, which are tiny spots of bleeding under your skin.
- You have frequent infections and fevers.
Is myelodysplasia a form of leukemia?
Myelodysplastic syndromes are a group of cancers, but not everyone who has MDS develops overt myeloid leukemia. About one-third of people with MDS develop acute myeloid leukemia.
What causes myelodysplastic syndromes?
People appear to develop MDS in one of two ways: through activities that increase their risk of developing the syndrome and by inheriting certain conditions.
What activities are linked to MDS?
- Past treatment with chemotherapy or radiation therapy. Healthcare providers may call this therapy-related MDS or tMDS. Generally speaking, tMDS symptoms may appear five to seven years after you complete therapy.
- Being exposed to certain chemicals, including tobacco smoke, pesticides, and solvents such as benzene.
- Being exposed to heavy metals, such as mercury or lead.
What genetic conditions are linked to MDS?
Between 4% and 15% of people diagnosed with MDS have genetic conditions that increase the risk of developing the syndrome. Researchers link MDS to the following genetic conditions:
- Fanconi anemia. This is a rare genetic condition where your bone marrow doesn’t produce enough blood cells.
- Dsykeratosis congenita. This is another rare genetic condition where your bone marrow doesn’t produce enough blood cells.
- Diamond-Blackfan anemia. This is a rare blood disorder that happens when your bone marrow doesn’t produce enough red blood cells.
- Shwachman-Diamond syndrome. This is a congenital syndrome, which means its present at birth. The syndrome affects children’s pancreatic glands and bone marrow.
Diagnosis and Tests
How do healthcare providers diagnose a 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.
How do healthcare providers use these results?
The World Health Organization developed an MDS classification system to help providers determine peoples’ risk for developing acute myeloid leukemia. Providers use what they learn to determine which of the six types of MDS you may have. Here is information on those MDS types:
|Blood and bone marrow test results||MDS type|
|You have anemia. Your white blood cells and platelet numbers are normal, but you have fewer red blood cells than normal. Less than 5% of the blood cells in your bone marrow are blasts or immature blood cells.||Refractory anemia (RA). People who have RA have a low risk of developing acute myeloid leukemia.|
|You have anemia. You have fewer red blood cells than normal and more than 15% of your red blood cells are sideroblasts. A sideroblast is a red blood cell ring in which the iron in your cell looks like a ring around the center of your cell. Your white blood cells and platelet numbers are normal.||Refractory anemia with ring sideroblasts (RARS). People who have RARS have a low risk of developing AML.|
|You have anemia and you have fewer normal blood cells for at least two of your three blood cell types. Less than 5% of the blood cells in your bone marrow are immature blood cells or blasts, and less than 15% of the red blood cells in your bone marrow are ringed sideroblasts. Viewed under a microscope, your other bone marrow cells look different from healthy bone marrow cells.||Refractory anemia with multilineage dysplasia. (RCMD). People who have this sub-type may eventually develop AML.|
|You have anemia and you have fewer normal blood cells for at least two of your three blood cell types. More than 15% of your red blood cells are sideroblasts. Your other bone marrow cells look different from healthy bone marrow cells.||Refractory cytopenia with multilineage dysplasia and ringed sideroblasts (RCMD-RS). RCMD-RS may eventually turn into AML.|
|You have anemia and all or some of your blood cell counts are lower than normal. Between 5 % and 20% of the blood cells in your bone marrow are immature blood cells (blasts).||Refractory anemia with excess blasts (RAEB). About 40% of people diagnosed with RAEB eventually develop AML. People with more than 20% blasts in the bone marrow are diagnosed with AML.|
|You have anemia. Less than 5% of the cells in your bone marrow and blood are immature blood cells and providers examining your cells under a microscope see changes in your del (5q) chromosome.||Myelodysplastic syndrome associated with an isolated del (5q) chromosome.|
|You have fewer than normal white blood cells, red blood cells or platelets, but your test results don’t show any of the specific signs shared by the other MDS subtypes.||Myelodysplastic syndrome, unclassified (MDS-U).|
Providers evaluate or stage MDS based on the risk the syndrome will become AML. They use a risk rating system called the International Prognostic Scoring System. Here are factors that providers consider:
- Whether you show signs or symptoms of anemia, bleeding, or infection.
- Your risk of developing leukemia.
- Certain changes in your chromosomes.
- Whether you developed MDS after receiving chemotherapy or radiation therapy for cancer.
- Your age and general health.
Management and Treatment
How are myelodysplastic syndromes treated?
Healthcare providers focus on treatments to bring your blood counts back to healthy levels. This is called supportive treatment. They may also decide to use treatment to destroy unhealthy blood cells. Your individual treatment plan depends on the following factors:
- The type of MDS that you have.
- If you have MDS conditions such as anemia, bleeding or infections.
- Whether you developed MDS after receiving chemotherapy or radiation therapy for cancer.
- Your age.
- Your general health.
What is supportive treatment for MDS conditions?
Most people who have MDS have anemia. Some people have bleeding problems (due to thrombocytopenia) or recurring infections. In supportive treatment, healthcare providers focus on treating those condition symptoms. Here is information on treatment for common MDS conditions:
|Anemia||Low red blood cells||Blood transfusions, growth factor medication to help blood cells mature. Some people may receive medication to reduce the need for blood transfusions.|
|Thrombocytopenia causing bleeding problems||Low platelets||Platelet transfusions, growth factor medication to help blood cells mature.|
|Infections||Low white blood cells||Antibiotics, growth factor medication to help blood cells mature.|
Sometimes people who have several blood cell transfusions receive iron chelation therapy to remove extra iron in their blood so they don’t develop tissue or organ damage.
What are treatment options for killing unhealthy blood cells?
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. Stem cell transplants replace your blood-forming cells with stem cells obtained from your blood or bone marrow or a donor’s blood or bone marrow. The stem cells are frozen and stored while you receive chemotherapy. Then the stem cells are thawed and returned to you via intravenous infusion. Your re-infused cells then grow into and restore your blood cells.
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.
MDS treatment is evolving, so you should also ask your provider about participating in clinical trials.
How can I reduce my risk of developing MDS?
Understanding MDS risk factors may be your best opportunity to identify the syndrome early so you can receive treatment. Myelodysplasia has been linked to chemotherapy and radiation therapy as well as exposure to certain chemicals and heavy metals. Talk to your healthcare provider about your medical history and any activities that placed you in close and prolonged contact with chemicals and heavy metals. They will help you to assess your personal risk.
Outlook / Prognosis
Can myelodysplasia be cured?
The only cure for myelodysplasia (MDS) is a successful blood stem cell transplant. Unfortunately, not everyone who has MDS can participate in a blood stem cell transplant. Ask your healthcare provider if a transplant is an option you should consider.
How long can you live with myelodysplasia?
Myelodysplastic syndrome is a serious health issue that can cause life-threatening conditions. It’s also a complicated health issue that affects people in different ways. Your healthcare provider is your best source of information about your individual prognosis or expected outcome.
How do I take care of myself if I have MDS?
MDS affects people in different ways. Some people have MDS but no symptoms. If that’s your situation, your provider may recommend blood tests every three months to monitor any changes in your blood stem cells. If you have MDS and are receiving supportive treatment such as blood transfusions, you may need additional treatment to reduce how many blood transfusions you need. Here are some steps you can take that may support your treatment:
- If you smoke, try to stop. Ask your healthcare provider about smoking cessation programs.
- Maintain a healthy weight.
- Find physical activities that you enjoy, and participate as often as you can.
- MDS is a chronic illness. It’s not easy to cope with an illness that can’t be cured. Talking to others may help.
When should I see my healthcare provider?
You should contact your provider any time you notice changes in your body that may be signs you’re developing an MDS-related condition, if your symptoms get worse or you develop new symptoms.
When should I go to the emergency room?
Myelodysplastic syndromes can cause conditions such as anemia, bleeding problems and infections. You should go to the emergency room any time you:
- Develop a fever that’s 100.4 ֯ Fahrenheit (38.3 ֯ Celsius) or higher. A fever may be a sign you have an infection.
- You begin to bleed uncontrollably.
What questions should I ask my doctor?
Myelodysplastic syndromes can cause several conditions that can become life threatening. If you’ve been diagnosed with MDS, you’ll likely have questions about the syndrome. Here are some questions you may want to ask your healthcare provider:
- Is MDS cancer?
- How am I affected by MDS?
- Will my MDS cause serious health problems, and if so, what kind of problems?
- I don’t have symptoms. What can I do to delay conditions related to MDS?
A note from Cleveland Clinic
If you have myelodysplastic syndrome, you have a form of cancer that is a chronic illness. No illness is easy, but chronic illness comes with an additional challenge: Managing the emotional impact of living with an illness that won’t go away. But there are treatments to slow the syndrome’s progress, possibly delaying the onset of MDS-related conditions. Providers can also treat those conditions and symptoms. And there are things you can do to help yourself. Ask your healthcare provider about lifestyle changes, like eating well and getting exercise, that can help you to be as healthy as possible. If you have MDS, you may feel angry and anxious. Tell your provider what you’re feeling. They will help you find programs and other support.
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