Myelodysplastic Syndrome (Myelodysplasia)

Myelodysplastic syndrome (MDS) refers to a group of blood cancers that cause your body to make abnormal blood cells. These cells can crowd out normal ones, leaving you with low blood cell counts. This can lead to low red blood cells (anemia). It can also cause low white blood cells, which increase your risk of infections, and low platelets, which cause you to bleed easily.

MDS is rare. It affects about 4 in 100,000 people in the U.S. each year. Most are males over 60 years old.

When it comes to treatment options and outlook, everyone’s situation is different. High-risk forms of the disease can progress to an aggressive cancer called acute myeloid leukemia (AML). Low-risk forms may not cause symptoms. This is why healthcare providers tailor treatment for each person.

Other names for this condition are myelodysplasia and (most recently) myelodysplastic neoplasm.

Types of myelodysplastic syndrome

Healthcare providers classify myelodysplasia based on your blood cell counts and how abnormal the cells are. They also look for gene changes linked to MDS. Types include:

• MDS with an SF3B1 mutation 
• MDS with del(5q)
• MDS not otherwise specified
• MDS with excess blasts
• MDS/AML

Knowing what these letters mean can feel like trying to read alphabet soup. What’s most important to know is that these groupings help providers predict how serious your condition is. And it helps researchers develop new treatments for fighting MDS.

Symptoms of myelodysplastic syndromes

You can have MDS without having any symptoms. You may not know there’s an issue until a blood test shows you have low red or white blood cells or low platelets.

Usually, the first symptom of MDS is fatigue — a sign of anemia. Other signs and symptoms also relate to having low blood cell counts. They include:

• Shortness of breath
• Pale skin
• Frequent infections and fevers
• Bruising or bleeding more than usual

Having one or more of these symptoms doesn’t necessarily mean you have MDS. But you should see a healthcare provider if they last longer than a few weeks.

Myelodysplastic syndrome causes

MDS involves problems with cell development. With this condition, early forms of blood cells (stem cells) don’t mature into healthy blood cells. Experts don’t know why this happens. But they do know that the risk increases with age.

Other risk factors include:

• Past treatment with chemotherapy or radiation therapy
• Exposure to substances that can cause cancer, like tobacco smoke, pesticides and benzene
• Exposure to heavy metals, like mercury or lead
• Rare genetic conditions you’re born with that keep your body from making enough healthy blood cells

Complications of this condition

About 1 out of 3 people with myelodysplastic syndromes develop AML. This is one of the most aggressive cancers.

Problems can also arise that relate to having low blood cells. Severe anemia, infections and blood loss are complications of low red blood cells, white blood cells and platelets (in that order). All can be life-threatening.

Your healthcare team will check your blood cell counts regularly. They’ll give you treatments that boost your levels if you’re low.

How doctors diagnose this condition

Blood tests show if you have low blood cell counts. Other signs of MDS include having too many immature blood cells (blasts) in your blood.

Lots of conditions can cause temporary low blood cell counts. You may need several blood tests to show that your low levels are chronic (long-lasting).

A bone marrow biopsy and aspiration is the only way to confirm the diagnosis. Your healthcare provider will insert a hollow needle into your hipbone to remove bone marrow (where blood cells are made). They’ll look at the cells under a microscope to see if you have MDS. 

What are the stages of myelodysplastic syndrome?

Healthcare providers use different scoring systems to predict how serious the condition is. This includes how likely it is to become AML. They consider:

• Blood cell counts
• Levels of hemoglobin, an important protein in healthy red blood cells
• Percentage of blasts in your bone marrow
• Whether there are abnormal genes in the cancer cells
• Your age, general health and symptoms

This information helps them decide if MDS is high or low risk. This also helps your provider choose the best treatment and predict your outlook (prognosis).

How is myelodysplastic syndrome treated?

Your treatment depends on many factors, including whether MDS is high or low risk. Your overall health and preferences are also important.

You may need treatment to boost low blood cells. This can help manage or prevent symptoms:

• Red blood cells (anemia): Medicines like erythropoiesis-stimulating agents help your body make more red blood cells. Immunosuppressants can prevent immune system issues that cause healthy blood cells to die. If the medicines aren’t helping enough, you may need blood transfusions.
• Platelets (thrombocytopenia): Thrombopoietin is a medicine that helps your body make more platelets. If your platelets are very low, you may need platelet transfusions.
• White blood cells (neutropenia): Antibiotics can fight infections related to low white blood cells. You may need shots of growth factors to get your bone marrow to make more white blood cells.

Other treatments get rid of the cancer cells. They include:

• Chemotherapy: Healthcare providers may use the same types of chemotherapy used to treat AML. Depending on the type, you may take pills or need regular infusions.
• Targeted therapy: These treatments attack specific kinds or parts of cancer cells. They may be an option if the cancer cells have certain gene mutations.
• Stem cell transplant: This procedure replaces your blood-forming cells with healthy stem cells. It’s the best option for curing MDS. But it’s an intense treatment that comes with serious risks. So, not everyone is a candidate.

Often, the best treatment is a clinical trial to try the newest therapies.

When should I see my healthcare provider?

Each treatment comes with side effects and potential complications. Ask your provider what changes in your body you should look out for.

They can let you know when a side effect means to schedule an appointment or seek emergency care.

What can I expect if I have this condition?

MDS is a chronic condition. The only cure is a successful stem cell transplant. But this treatment isn’t safe for everyone. Ask your healthcare provider if it’s a choice you should consider.

Some people have MDS but no symptoms. If that’s your situation, your provider may recommend blood tests periodically to monitor any changes in your blood stem cells. If you’re receiving blood transfusions, you may need medicines to reduce how many of them you need.

Your prognosis — including your life expectancy — depends on things like whether your condition is low or high risk. You’ll learn this as part of your diagnosis. People with low-risk MDS may live as long as someone the same age without MDS. High-risk MDS is more likely to progress to AML. Both high-risk MDS and AML involve a shortened life expectancy.

Is there anything I can do to feel better?

MDS affects people in different ways. But no matter your prognosis, it’s a good idea to use every resource available for support. Not everyone will understand what it’s like living with a chronic illness. It may help to talk to others who share your experience. Your healthcare team may be able to help you find programs and resources.

You may also benefit from palliative care. This care helps people manage MDS symptoms and treatment side effects. It can also help with managing the emotional impact of living with a chronic disease.