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Myelodysplastic Syndrome (Myelodysplasia)

Myelodysplastic syndrome (also called myelodysplasia or MDS) affects blood stem cells. People with MDS don’t have enough healthy blood cells. MDS can cause anemia, frequent infections and bleeding that won’t stop. Some people with MDS develop acute myeloid leukemia. MDS treatment focuses on keeping it from getting worse.

Overview

What is myelodysplastic syndrome (MDS)?

Myelodysplastic syndrome (also called myelodysplasia or more recently, myelodysplastic neoplasm) refers to a group of cancers that keep your blood (hematopoietic) stem cells from maturing into healthy blood cells. Without enough healthy blood cells, you may develop serious conditions like anemia, frequent infections and bleeding that won’t stop. Some people with MDS may develop acute myeloid leukemia (AML).

MDS is rare. It affects about 4 in 100,000 people in the U.S. each year. If you have MDS, your healthcare providers will focus treatment on slowing its progress, easing your symptoms and treating the conditions it causes.

Types of myelodysplastic syndrome

There are six MDS types. Healthcare providers categorize the condition after reviewing results of tests that show:

  • The number of healthy red and white blood cells and platelets: People with lower-than-usual red blood cells have anemia, which may make them feel weak and short of breath.
  • The number of immature blood cells or blasts: Blasts take up space in your bone marrow, leaving less room for healthy blood cells. If you don’t have enough healthy white blood cells, you may have frequent infections. If you don’t have enough healthy platelets, you may have bleeding that won’t stop.
  • Sideroblasts: Sideroblasts are immature red blood cells that store iron instead of using it to make hemoglobin. Hemoglobin is a protein that helps your red blood cells carry oxygen throughout your body. It needs iron to do that. If pathologists spot sideroblasts, it means your hemoglobin isn’t working as it should.
  • Chromosomal changes: 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.

MDS types
MDS with multilineage dysplasia (MDS-MLD)
Characteristics
Some of the blood cells or platelets in your bone marrow are oddly shaped or look different from healthy cells. Your provider may refer to this as dysplasia. You have the normal number of blasts, but you have low levels of at least one blood cell type. If you have this subtype, you may eventually develop AML.
MDS with single lineage dysplasia (MDS-SLD)
Characteristics
At least one of the immature blood cell or platelet types in your bone marrow looks different from healthy cells or platelets. There are low levels of one or two of your blood cell types and you have the normal number of blasts in your bone marrow and few or no blasts in your blood. This type of MDS rarely becomes AML.
MDS with ring sideroblasts (MDS-RS)
Characteristics
In this type of MDS, about 15% of immature red blood cells are ring sideroblasts, and dysplasia affects one or two cell types in your bone marrow. Rarely, it turns into AML.
MDS with excess blasts (MDS-EB)
Characteristics
You may have anemia. Tests show low levels of two of your three blood cell types and that you have a significant number of blasts. About 40% of people diagnosed with MDS-EB eventually develop AML.
Myelodysplastic syndrome associated with an isolated del (5q) chromosome
Characteristics
Special tests to analyze cells show a certain chromosome part is missing.
Myelodysplastic syndrome, unclassifiable (MDS-U)
Characteristics
Tests show you have fewer blood cells than usual, or abnormal chromosome but no other MDS signs.

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Symptoms and Causes

What are the symptoms of myelodysplastic syndrome?

You can have MDS without having any symptoms. Sometimes, people learn they have a type of this syndrome after having routine blood tests. Low levels of red blood cells (anemia) are the most common symptom. 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 changes that don’t go away within a few weeks:

  • You feel as if you can’t quite catch your breath (dyspnea).
  • You feel weak or very tired, and resting doesn’t make you feel less tired.
  • You notice your skin is paler than usual. If you have dark skin, your healthcare provider may check your inner eyelids and the inside of your mouth and nose for loss of color.
  • You bruise or bleed more often 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.

What causes myelodysplastic syndrome?

People seem to develop MDS in one of two ways: They participate in activities that increase their risk of developing the syndrome or they inherit certain conditions.

Activities 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 therapy.
  • Being exposed to certain carcinogens, including tobacco smoke, pesticides and solvents like benzene.
  • Being exposed to heavy metals, like mercury or lead.

Genetic conditions linked to MDS

Between 4% and 15% of people with this condition have inherited conditions that increase the chance they’ll have the disease. Those conditions include:

  • Fanconi anemia: This is a rare genetic condition where your bone marrow doesn’t produce enough healthy blood cells.
  • Dyskeratosis congenita: This is another rare genetic condition where your bone marrow doesn’t produce enough healthy blood cells.
  • Diamond-Blackfan anemia: This is a rare blood disorder that happens when your bone marrow doesn’t produce enough red blood cells.

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Diagnosis and Tests

How is myelodysplastic syndrome diagnosed?

Providers take several steps to diagnose myelodysplastic syndrome:

  • 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: A medical pathologist looks for changes in your blood cell chromosomes by viewing a blood sample under a microscope.
  • Bone marrow 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.

What are the stages of myelodysplastic syndrome?

Providers evaluate or stage the condition based on the risk that the syndrome will become acute myeloid leukemia (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 is myelodysplastic syndrome treated?

Healthcare providers consider several factors when developing MDS treatment plans:

  • The type of MDS 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.

Treatment for myelodysplastic syndrome may include supportive care and treatment to get rid of unhealthy blood cells. Supportive care may include:

  • Blood transfusion: If you have anemia, you may receive red blood cell transfusions. If you have bleeding issues, you may receive platelet transfusions.
  • Erythropoiesis-stimulating agents (ESA): This treatment boosts your mature red blood cell levels.
  • Antibiotics: MDS may affect your white blood cells and increase your risk of infections.

Treatments to get rid of unhealthy blood cells may include:

  • 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.

People with myelodysplasia may benefit from palliative care. This care helps people manage MDS symptoms and treatment side effects. Just as important, it may help people manage the emotional impact of living with a chronic disease.

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Prevention

Can myelodysplastic syndrome be prevented?

No, but understanding MDS risk factors may help healthcare providers diagnose and treat MDS early on. Myelodysplasia syndrome is 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’ll help you assess your personal risk.

Outlook / Prognosis

Can myelodysplastic syndrome be cured?

The only cure for MDS is a successful stem cell transplant. Unfortunately, not everyone can have this treatment. Ask your healthcare provider if a transplant is a choice you should consider.

What is the life expectancy for someone with myelodysplastic syndrome?

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.

Living With

How do I take care of myself?

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 more treatment to reduce how many blood transfusions you need. Here are some steps you can take that may support your treatment:

  • If you use tobacco products (including vaping), try to stop. Ask your healthcare provider about tobacco cessation programs.
  • Reach and maintain a weight that’s healthy for you.
  • Find physical activities that you enjoy and participate in them as often as you can.
  • Remember that MDS is a chronic illness that healthcare providers can treat but they can’t cure. Not everyone will understand what you’re going through. It may help to talk to others who share your experience. Your healthcare team may be able to help you find programs and resources.

When should I go to the emergency room?

Myelodysplastic syndrome can cause conditions like anemia, bleeding issues and infections. You should go to the emergency room any time you:

  • Develop a fever that’s 100.4 degrees Fahrenheit (38.3 degrees Celsius) or higher. A fever may be a sign you have an infection.
  • You have bleeding that you can’t control.

What questions should I ask my healthcare provider?

Myelodysplastic syndrome is rare, so you’ll likely have many questions about what you can expect. 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?
  • 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 (MDS), you have a form of cancer that’s a chronic illness. No illness is easy, but having a chronic illness means also managing the emotional impact of an illness that won’t go away. But living with MDS doesn’t mean living without hope. Some treatments may slow down MDS. You may be a candidate for a clinical trial evaluating new ways to treat myelodysplastic syndrome. And there are things you can do to help yourself. Ask your healthcare provider about lifestyle changes, like eating well and getting exercise, which can help you be as healthy as possible.

Medically Reviewed

Last reviewed on 07/10/2023.

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