Myelodysplastic syndromes (MDS)

Myelodysplastic syndrome (MDS) is a group of diseases that affect the blood and bone marrow, the soft, spongy tissue inside bones where blood cells are formed. In MDS, the blood-forming cells (stem cells) in the marrow slow down or stop producing enough healthy blood cells. This leads to issues with the three main types of blood cells:

1. Red blood cells – Carry oxygen throughout the body
2. White blood cells – Help fight infections
3. Platelets – Help the blood clot and stop bleeding

Symptoms of MDS can vary depending on the type and severity of the condition. Common symptoms include:

• Fatigue or weakness caused by anemia (low red blood cell count)
• Infections or fevers due to a low white blood cell count
• Easy bruising or prolonged bleeding from cuts or injuries due to low platelet levels

Some people may not experience symptoms in the early stages, and the condition is often discovered during routine blood tests.

Risk factors for MDS include:

• Age: MDS is more common in people over 60 years old
• Previous cancer treatments, such as chemotherapy or radiation therapy, which can damage bone marrow cells
• Exposure to chemicals, such as industrial substances, pesticides, or heavy metals
• Genetic predisposition to blood disorders or certain syndromes

The prognosis for MDS depends on the type and progression of the disease. Some forms are mild and manageable, while others may become severe or progress into acute myeloid leukemia (AML), a fast-growing blood cancer.

Treatment options include:

• Cell therapy (previously known as bone marrow transplant), which replaces unhealthy blood-forming cells with healthy ones
• Medications to improve blood cell production or manage symptoms
• Supportive care, such as blood transfusions, to improve quality of life

Early diagnosis, regular monitoring, and a personalized treatment plan are essential to managing MDS effectively. At every step, our resources and education materials are free to help patients navigate their treatment journey.

A blood or marrow transplant (BMT), also known as a bone marrow or blood stem cell transplant, can treat patients who have MDS, including older individuals. This procedure replaces the unhealthy blood-forming cells (stem cells) with healthy ones. For some people, transplant can cure myelodysplastic syndrome. For others, it may delay relapse (the return of MDS symptoms).

An allogeneic transplant is the most common type of transplant for MDS, which uses healthy blood-forming cells donated by another person. These healthy cells can come from a:

• Family member
• Unrelated donor
• Umbilical cord blood

A bone marrow or blood stem cell transplant for MDS involves three main stages: preparation, transplant and recovery. Each step is essential for replacing unhealthy bone marrow cells with healthy ones.

1. Preparation: The process begins with high-dose chemotherapy (and sometimes radiation) to destroy abnormal cells in the bone marrow. This step clears space for the donor stem cells to take root and begin producing new, healthy blood cells.
2. Transplant: Donor blood stem cells are infused into the patient’s bloodstream through an intravenous (IV) catheter. Once inside the body, these cells travel to the bones, where they settle and start generating healthy blood cells.
3. Recovery: Recovery can take several months and will require staying in the hospital or close to the transplant center for a portion of that time. During this time, the transplant team will monitor the patient closely for complications, including:
   • Low blood cell counts, increasing the risk of infections and bleeding.
   • Graft-versus-host disease (GVHD), where donor immune cells attack the patient’s tissues, potentially causing serious complications.

With careful monitoring, many patients move successfully through this process toward remission.

You should see a transplant doctor early after diagnosis of MDS if:

• Your MDS has a high risk of relapse (coming back)
• The MDS was caused by another treatment, such as chemotherapy for another cancer
• You have very low blood cell counts despite ongoing treatment
• You need frequent blood transfusions to manage your condition

At your first appointment, your transplant doctor will:

• Review your medical history and current health
• Discuss the available treatment options for your specific type of MDS
• Explain the risks and benefits of transplant
• Recommend the best time to begin transplant preparation
• Start a donor search even if you don’t need a transplant right away. This can help you get a transplant faster if it’s needed later.

Your doctor may perform cytogenetic and molecular testing to evaluate your risk of MDS relapse. These tests analyze the chromosomes and genes in your blood or bone marrow to predict whether the disease is likely to return.

• Certain genetic changes indicate a lower risk of relapse.
• Other changes may suggest a higher risk of relapse.

Make sure to ask for a copy of your test results and have your doctor explain what they mean for your treatment. If your risk of relapse is high and you’re healthy enough for a transplant, seeing a transplant doctor as soon as possible is critical.

Ask questions so you understand your treatment options and can make decisions that are best for you. Questions you may want to ask your doctor include:

• What are my chances of a cure or long-term remission with a bone marrow transplant?
• How does the type of MDS I have affect the success rate of transplant?
• Will my current health or age impact the outcome of a transplant?
• What do my cytogenetic and molecular markers mean for my treatment plan?
• What are the possible side effects of transplant? How can they be reduced?
• How might my quality-of-life change over time, with or without transplant?

By asking these questions, you can better understand your options and plan the next steps in your treatment journey.