Myelodysplastic syndromes are a group of disorders caused by poorly formed blood cells or ones that don't work properly. Myelodysplastic syndromes result from something amiss in the spongy material inside your bones where blood cells are made (bone marrow).
Treatment for myelodysplastic syndromes usually focuses on reducing or preventing complications of the disease and its treatments. In some cases, treatment might involve chemotherapy or a bone marrow transplant.
Myelodysplastic syndromes rarely cause signs or symptoms in the early stages.
In time, myelodysplastic syndromes might cause:
- Shortness of breath
- Unusual paleness (pallor) which occurs due to a low red blood cell count (anemia)
- Easy or unusual bruising or bleeding which occurs due to a low blood platelet count (thrombocytopenia)
- Pinpoint-sized red spots just beneath your skin caused by bleeding (petechiae)
- Frequent infections which occurs due to a low white blood cell count (leukopenia)
When to see a doctor
Make an appointment with your doctor if you have signs or symptoms that worry you.
In a healthy person, bone marrow makes new, immature blood cells that mature over time. Myelodysplastic syndromes occur when something disrupts this process so that the blood cells don't mature.
Instead of developing normally, the blood cells die in the bone marrow or just after entering the bloodstream. Over time, there are more immature, defective cells than healthy ones, leading to problems such as fatigue caused by anemia, infections caused by leukopenia, and bleeding caused by thrombocytopenia.
Some myelodysplastic syndromes have no known cause. Others are caused by exposure to cancer treatments, such as chemotherapy and radiation, or to toxic chemicals, such as tobacco, benzene and pesticides, or to heavy metals, such as lead.
Types of myelodysplastic syndromes
The World Health Organization divides myelodysplastic syndromes into subtypes based on the type of blood cells — red cells, white cells and platelets — involved.
Myelodysplastic syndrome subtypes include:
- Myelodysplastic syndrome with unilineage dysplasia. One blood cell type —white blood cells, red blood cells or platelets — is low in number and appears abnormal under the microscope.
- Myelodysplastic syndrome with multilineage dysplasia. In this syndrome, two or three blood cell types are abnormal.
- Myelodysplastic syndrome with ring sideroblasts. This type, which has two subtypes, involves a low number of one or more blood cell types. A characteristic feature is that existing red blood cells in the bone marrow contain a ring of excess iron called ring sideroblasts.
- Myelodysplastic syndrome associated with isolated del chromosome abnormality. People with this syndrome have low numbers of red blood cells, and the cells have a specific mutation in their DNA.
- Myelodysplastic syndrome with excess blasts — types 1 and 2. In both these syndromes, any of the three types of blood cells — red blood cells, white blood cells or platelets — might be low and appear abnormal under a microscope. Very immature blood cells (blasts) are found in the blood and bone marrow.
- Myelodysplastic syndrome, unclassifiable. In this uncommon syndrome, there are reduced numbers of one of the three types of mature blood cells, and either the white blood cells or platelets look abnormal under a microscope.
Factors that can increase your risk of myelodysplastic syndromes include:
- Older age. Most people with myelodysplastic syndromes are older than 60.
- Treatment with chemotherapy or radiation. Chemotherapy or radiation therapy, both of which are commonly used to treat cancer, can increase your risk of myelodysplastic syndromes.
- Exposure to certain chemicals. Chemicals linked to myelodysplastic syndromes include tobacco smoke, pesticides and industrial chemicals, such as benzene.
- Exposure to heavy metals. Heavy metals linked to myelodysplastic syndromes include lead and mercury.
Complications of myelodysplastic syndromes include:
- Anemia. Reduced numbers of red blood cells can cause anemia, which can make you feel tired.
- Recurrent infections. Having too few white blood cells increases your risk of serious infections.
- Bleeding that won't stop. Lacking platelets in your blood to stop bleeding can lead to excessive bleeding.
- Increased risk of cancer. Some people with myelodysplastic syndromes might eventually develop a cancer of the blood cells (leukemia).
A physical exam, medical history and tests might be used if your doctor suspects you have a myelodysplastic syndrome.
Tests might include:
- Blood tests. Your doctor might order a number of blood tests to determine the number of red cells, white cells and platelets and look for unusual changes in the size, shape and appearance of various blood cells.
- Removing bone marrow for testing. During a bone marrow biopsy and aspiration, a thin needle is used to withdraw (aspirate) a small amount of liquid bone marrow, usually from a spot on the back of your hipbone. Then a small piece of bone with its marrow is removed (biopsy). The samples are examined in a laboratory to look for abnormalities.
Treatment for myelodysplastic syndromes most often targets slowing disease progression, managing symptoms, such as fatigue, and preventing bleeding and infections.
If you have no symptoms, your doctor might recommend watchful waiting with regular exams and lab tests to see if the disease progresses.
Research on myelodysplastic syndromes is ongoing. Ask your doctor about clinical trials for which you might be eligible.
Blood transfusions can be used to replace red blood cells, white blood cells or platelets in people with myelodysplastic syndromes.
Treatment for myelodysplastic syndromes might include medications that:
Increase the number of blood cells your body makes. Called growth factors, these medications are artificial versions of substances found naturally in your bone marrow.
Some growth factors, such as epoetin alfa (Epogen, Procrit) or darbepoetin alfa (Aranesp), reduce the need for blood transfusions by increasing red blood cells. Others, such as filgrastim (Neupogen, Zarxio) might help prevent infections by increasing white blood cells in people with certain myelodysplastic syndromes.
- Stimulate blood cells to mature. Medications such as azacitidine (Vidaza) and decitabine (Dacogen) might improve the quality of life of people with certain myelodysplastic syndromes and reduce the risk of acute myelogenous leukemia.
- Suppress your immune system. These types of medications are used in certain myelodysplastic syndromes, and might lessen the need for red blood cell transfusions.
- Help people with a certain genetic abnormality. If your myelodysplastic syndrome is associated with a gene mutation called isolated del(5q), your doctor might recommend lenalidomide (Revlimid).
- Treat infections. If your condition causes you to have infections, you'll be treated with antibiotics.
Bone marrow transplant
During a bone marrow transplant, also known as a stem cell transplant, high doses of chemotherapy drugs are used to clear out the defective blood cells from your bone marrow. Then the abnormal bone marrow stem cells are replaced with healthy, donated cells (allogeneic transplant).
Newer techniques use less-toxic chemotherapy before the transplant than did older ones. However, bone marrow transplants carry a significant risk of side effects. For this reason, few people with myelodysplastic syndromes are candidates for bone marrow stem cell transplant.
Because people with certain myelodysplastic syndromes have low white blood cell counts, they're subject to recurrent, and often serious, infections.
To reduce your risk of infections:
- Wash your hands. Wash hands frequently and thoroughly with warm, soapy water, especially before eating or preparing food. Carry an alcohol-based hand sanitizer for times when water isn't available.
- Take care with food. Thoroughly cook all meat and fish. Avoid fruits and vegetables you can't peel, especially lettuce, and wash all produce you do use before peeling. To increase safety, you might want to avoid all raw foods.
- Avoid people who are ill. Try to avoid close contact with anyone who is sick, including family members and co-workers.
You'll likely start by seeing your family doctor or primary care doctor. If your doctor suspects you have a myelodysplastic syndrome, you might be referred to a doctor who specializes in blood disorders (hematologist).
Here's some information to help you get ready for your appointment.
What you can do
When you make the appointment, ask if there's anything you need to do in advance, such as restrict your diet.
Make a list of:
- Your symptoms, including those that seem unrelated to the reason for the appointment, and when they began
- Key personal information, including previous treatment for cancer or exposure to toxic chemicals
- All medications, vitamins and supplements you take, including doses
- Questions to ask your doctor
Consider taking a family member or friend along to help you remember the information you're given.
For myelodysplastic syndromes, questions to ask your doctor might include:
- What type of myelodysplastic syndrome do I have?
- Will I need more tests?
- What is my prognosis?
- What is my risk of leukemia?
- If I need treatment, what are my options and what do you recommend?
- I have these other health conditions. How can I best manage them together?
- Are there restrictions I need to follow?
- Are there brochures or other printed material that I can have? What websites do you recommend?
Don't hesitate to ask other questions.
What to expect from your doctor
Your doctor is likely to ask questions, such as:
- Have your symptoms been continuous or occasional?
- How severe are your symptoms?
- What, if anything, seems to improve your symptoms?
- What, if anything, appears to worsen your symptoms?