Myelodysplastic syndromes (MDS) are a rare group of diseases in which your body's bone marrow doesn’t make enough healthy blood cells. Instead, it makes too many early forms of blood cells that have defects. These defective cells either die in the marrow or soon after they enter your bloodstream.
There are three major types of blood cells, all of which are made in your bone marrow and can be affected by MDS:
Red blood cells. These carry oxygen from your lungs to the rest of your body and bring back carbon dioxide to your lungs. When you don’t make enough of them, you develop anemia.
White blood cells. These help your body fight infection.
Platelets. These are cells that form clots to help stop bleeding.
Most cases of MDS happen in people over the age of 60. Besides age, other things that raise your risk include:
- Past treatment with chemotherapy or radiation
- Genetic syndromes such as Fanconi anemia, Shwachman-Diamond syndrome, or a familial platelet disorder
- Long-term workplace exposure to chemicals like benzene
There are often no symptoms in the early stages of MDS. Sometimes, your doctor will find signs of the disease through routine blood tests. When symptoms develop, you may notice:
- Shortness of breath
- Pale skin
- Frequent infections
- Bruising and bleeding easily
Other symptoms that you may have, especially later in the disease, include:
- Weight loss
- Loss of appetite
- Petechiae (tiny red spots just under the skin)
- Bone pain
Diagnosis and Testing
To find out whether you have one of the myelodysplastic syndromes, your doctor will most likely do the following:
Physical exam. Your doctor will take your medical history and examine you to look for your symptoms.
Complete blood count. This is a blood test that measures all the cells and platelets in your blood. Your doctor may also do a blood smear, where they examine your blood on a slide under a microscope to see if any of your blood cells are an abnormal shape or size.
Other blood tests. Your doctor may also check your iron, folate, and vitamin B12 levels to rule out other causes of anemia.
Bone marrow tests. While blood tests can give your doctor clues that you might have MDS, bone marrow tests are the only way to definitively diagnose it. There are two main ways that this is done:
- Bone marrow aspiration: Your doctor inserts a thin, hollow needle into your hipbone and uses a syringe to suck out liquid bone marrow.
- Bone marrow biopsy: This is like an aspiration, but it uses a larger needle, and a small piece of bone is also removed.
Your doctor will use these tests to look at the size and shape of early blood cells. They’ll also see what percentage of the cells are a certain type of immature cell called blasts.
You’ll get a diagnosis of MDS if too many of your blood cells have defects and there are less than 20% of blasts in your bone marrow and blood. If you have more than that, you’re diagnosed with acute myeloid leukemia (AML), which is a form of blood cancer.
Your doctor may also run other tests to see what type of MDS you have and what stage it is. These include:
Flow cytometry and immunocytochemistry. These two tests treat cell samples with antibodies, a type of protein that sticks to certain other proteins on cells. They may help your doctor figure out which form of MDS you have.
Chromosome testing. Certain chromosome changes in MDS cells may give your doctor a better sense of your prognosis.
Your doctor may give you a prognostic score, which is based on some of the features of your disease. This can help determine if you have lower-risk MDS, which may mean that you can live for years before you need treatment, or higher-risk MDS, which may mean a shorter life expectancy and more aggressive treatment.
My MDS Diagnosis
In the summer of 2018, Jon Hendren felt pretty good at his annual physical exam. Maybe he was a little tired. But as an endurance athlete who runs 50- and 100-mile races, tired came with the territory.
His primary doctor ran routine blood tests. The results suggested anemia. This is when your body doesn’t have enough healthy red blood cells. Low iron is one possible cause. Because Hendren follows a plant-based diet, he doesn’t eat iron-rich meat.
To Hendren, that was an obvious explanation for the extra fatigue. His doctor wasn’t so sure. Anemia can be caused by many things, including MDS.
“My primary doctor said, ‘You’ve got something funny going on with your blood. It could be nothing, since you’re a vegetarian and you run 100-mile races. But I still need you to get more blood work done,’” Hendren recalls.
Hendren went to an appointment at a hematology practice. They ordered blood tests for him, but he never followed through. Everyday life got in the way.
At his 2019 physical, the results of routine blood tests had become worrisome. Hendren remembers his doctor saying, “There’s something definitely wrong. I’m going to walk you down to a hematologist now.”
Hendren was surprised to find they were walking through the oncology department. Only then did he realize he might have something serious. And the hematologist left little room for doubt when he ordered a bone marrow biopsy to confirm a diagnosis of MDS.
“At first, I thought he said MS, for multiple sclerosis. Or maybe he said I had MD, for muscular dystrophy,” Hendren recalls. “I had no idea what MDS was.”
In the blur of information he got from specialists and his own research, a few facts stood out: With his type of MDS, he could die within a year. His only hope of survival was a bone marrow transplant. The transplant and related treatments could also be fatal.
But for Hendren, MDS was also a physical challenge he was determined to overcome. With grit and an incredible support team, he’s now 61 and has been in remission for 3 years.
Questions for Your Doctor
If you have MDS, it is very important that you have regular conversations with your doctor about your health care. Questions to ask right after your diagnosis include:
- What is MDS? How is it different from leukemia?
- What MDS subtype do I have?
- Do I need any other tests before treatment?
- What risk group does my MDS type fall into?
- What is my prognosis?
- How do I find a doctor who specializes in MDS? Are there any other medical providers I might need to see?
- Are there other factors that could affect my treatment and prognosis?
You will also want to ask questions to help you decide on the right treatment plan, such as:
- What are my treatment options?
- Do I need to start treatment right away?
- What treatment plan do you recommend, and why?
- Who will be leading my treatment plan?
- Are there any clinical trials I should look into?
- What is the goal of each treatment?
- What are the possible side effects of treatment?
- Will treatment affect my ability to do daily activities?
- Is there a doctor or cancer center you would suggest I go to for a second opinion before I begin treatment?
You may also want to ask the following questions, during and after treatment:
- How will we know that the treatment is working?
- What can I do to help manage side effects?
- Do I need to change my diet or exercise patterns during treatment?
- Who do I call to discuss side effects?
- What are my options if the treatment does not work?
- What type of follow-up will I need after treatment?
- What support services are available to me and to my family?
Your medical team’s approach to your MDS depends on the following:
- The type of MDS you have
- Your risk group
- Your age and overall health
Sometimes, if you don’t have a very low blood cell count and your symptoms are mild, you and your doctor can take a “watch and wait” approach. Otherwise, your doctor may recommend one or more of these options:
Growth therapy injections. These hormone-like substances, such as epoetin (Epogen, Procrit), granulocyte colony stimulating factor (G-CSF, filgrastim or Neupogen), granulocyte macrophage-colony stimulating factor (GM-CSF, sargramostim or Leukine), and luspatercept (Reblozyl), all help your bone marrow to make new blood cells.
Thrombopoietin-receptor agonists. Drugs like romiplostim (Nplate) and eltrombopag (Promacta) raise platelet levels.
Red blood cell transfusions. They treat the anemia that often goes with MDS. If you get a lot of transfusions, you may need iron chelation therapy to remove excess iron.
Chemotherapy. Hypomethylating drugs, which include azacitidine (Vidaza) and decitabine (Dacogen), activate genes that help blood cells mature. A drug called cytarabine (ara-C) can be used at a low dosage to help manage symptoms of the disease, or at a higher dose to attempt to put the disease into remission.
Lenalidomide (Revlimid). This is a type of drug known as an immunomodulating drug. It seems to work best in people whose MDS cells are missing a part of certain chromosomes.
Immunosuppressants. Drugs such as anti-thymocyte globulin (ATG) and cyclosporine may be used to treat patients who have low numbers of cells in their bone marrow.
Stem cell transplant. This is the only treatment that can cure myelodysplastic syndrome. In this treatment, you’ll get new stem cells from a donor that begin to make new blood cells in your body.
Taking Care of Yourself
If you have MDS, it is very important to take care of yourself, especially as you go through treatment. Here are four things you can do that can help:
Exercise. It’s important to stay active as possible to benefit both your body and mind. You’ll need approval from your oncology team before you start to exercise.
Manage fatigue. More than 90% of people with MDS report fatigue. Take steps to conserve your energy: Pace yourself, delegate tasks, and schedule activities for times when you have the most energy.
Eat a healthy diet. If you have a low white blood cell count, ask your doctor if you need to follow a neutropenic diet, which limits your exposure to bacteria and fungi that you can come into contact with through food.
Practice mind-body therapies. Things like meditation, yoga, and deep breathing help you relieve stress and may help you manage fatigue.
What to Expect
If you have MDS, it can be challenging to know what to expect. Some people live with the condition for years and require little or no treatment. Others have more aggressive disease, and about a third of all patients develop AML, which requires more intense treatment.
Someone with a very low-risk prognostic score at diagnosis will go on to live, on average, for about 8.8 years, while someone with a very high score on average lives for less than a year. But these prognostic scores aren’t a crystal ball; they only provide averages. There’s no way to know for sure how aggressive your MDS is and how for long you’ll live.
If you have MDS, it is very important to get the support you need. Groups like the MDS Foundation offer global patient support groups. Other options include:
- The Aplastic Anemia and MDS International Foundation support line.
- Marrowforums, an online discussion forum for people affected by bone marrow failure diseases.
- The American Cancer Society has a cancer helpline and also can help provide transportation and even lodging during treatment.
Caring for Your Emotional and Mental Health
It can be devastating and frightening to learn that you have MDS. You may run the gamut of emotions, from shock to worry to anger to resolve. Here are some ways to help you manage your feelings:
Focus on the positive. Take things one day at a time and remind yourself of all the things that you’re able to do: work, spend time with family, pursue hobbies.
Recognize the signs of depression. These include feeling sad most of the time for at least 2 weeks, loss of interest in things that you once enjoyed, and trouble with concentration. If you notice any of them, reach out to a mental health professional.
Find support from others. This can be through traditional support groups, your place of worship, or from reaching out to friends and family.
Tips for Living With MDS
If you have MDS, it’s very important that you feel in control of your care and your life. To do this, you can:
Build a strong health care team. You can find a list of specialists at the AA-MDS International Foundation’s specialist map.
Know your options. Stay well-informed about your MDS and your treatment options.
Set agendas for doctor visits. This will ensure that you get questions answered and your needs met.
Keep track of your information. This includes your medical records and health history.
Build a strong support team. Surround yourself with people who can listen to your concerns.
Meet the Care Team
Many different professionals may make up your MDS health care team, including:
- Primary care doctor
- Hematologist (specialist in blood disorders)
- Oncologist (cancer specialist)
Information for Caregivers
If you are a caregiver, you have a very important role in the life of your loved one who has MDS. Among the many things you can do:
- Provide support and encouragement.
- Talk to their medical team to clarify questions.
- Give medications.
- Help manage symptoms and side effects.
- Coordinate doctor appointments.
- Transport your loved one to and from appointments.
- Assist with meals.
- Help around the house.
- Handle insurance and billing issues.