Health Library Logo

Health Library

Myelodysplastic Syndromes

Overview

Myelodysplastic syndromes (MDS) are a group of blood disorders. These disorders happen when the body doesn't make healthy blood cells. Normally, blood cells are created in the spongy tissue inside your bones, called bone marrow. In MDS, something goes wrong in the bone marrow, causing it to produce faulty or ineffective blood cells.

Treating MDS usually focuses on slowing the disease's progression, relieving symptoms, and preventing problems. Common treatments include blood transfusions to replace the missing healthy blood cells and medicines to help the bone marrow make more blood cells. Sometimes, a bone marrow transplant – also called a stem cell transplant – is needed. This involves replacing the diseased bone marrow with healthy bone marrow from a donor. This is a more involved procedure, and is only considered in specific situations.

Symptoms

Tiny reddish-purple spots, called petechiae, can appear on the skin, sometimes looking like a rash. This is seen on the leg (A) and the stomach (B) in the examples. These spots are caused by tiny bleeds under the skin.

Sometimes, people with myelodysplastic syndromes (MDS) don't have any noticeable symptoms at first. But as MDS develops, several problems can arise:

  • Feeling tired all the time (fatigue): This is a common symptom.
  • Shortness of breath: Your body might not be getting enough oxygen.
  • Looking pale (pallor): This happens because your body doesn't have enough red blood cells (a condition called anemia). Red blood cells carry oxygen throughout your body.
  • Easy bruising or bleeding: This is due to a low count of blood cells called platelets, which help stop bleeding.
  • Tiny red spots under the skin (petechiae): These are caused by tiny blood leaks.
  • Frequent infections: This is because your body doesn't have enough white blood cells (leukopenia), which are part of your immune system and fight off germs.

These are some of the signs that can develop in people with myelodysplastic syndromes. It's important to remember that not everyone will experience all of these symptoms, and the symptoms may appear at different times and in different ways. If you have concerns about these symptoms, it's always best to see a doctor.

When to see a doctor

If you're experiencing any health concerns or notice anything unusual, it's important to schedule a check-up with your doctor. Don't ignore any symptoms that bother you. Seeing a doctor is a good way to get personalized advice and care for your health.

Causes

Your bone marrow is like a blood cell factory, constantly making new blood cells. In myelodysplastic syndromes (MDS), something goes wrong in this process. Instead of healthy blood cells maturing properly, they die off in the bone marrow or shortly after entering the bloodstream.

This leaves a buildup of immature, flawed blood cells. This can lead to several problems:

  • Fatigue: Too few healthy red blood cells (anemia) make you tired.
  • Infection: Not enough white blood cells (leukopenia) makes you more vulnerable to infections.
  • Bleeding: Too few platelets (thrombocytopenia) can cause easy bruising and bleeding.

The exact cause of most MDS cases is unknown. However, some MDS cases can be linked to things like:

  • Cancer treatments: Chemotherapy and radiation can sometimes damage the bone marrow, leading to MDS.
  • Toxic exposures: Exposure to certain chemicals, like benzene, can also increase the risk.

Doctors classify MDS into different types based on which blood cells are affected. These types include:

  • Single-lineage dysplasia: One type of blood cell (red, white, or platelets) is low and appears unusual under a microscope.

  • Multilineage dysplasia: Two or three types of blood cells are abnormal.

  • Ring sideroblasts: The bone marrow has low numbers of one or more blood cell types. Crucially, the red blood cells contain extra iron in a ring-like pattern.

  • Isolated del(5q) chromosome abnormality: Red blood cells are low, and they have a specific genetic change (a missing part of chromosome 5).

  • Excess blasts: Any blood cell type (red, white, or platelets) might be low and abnormal. A higher-than-normal number of very immature blood cells called "blasts" are found in the blood and bone marrow.

  • Unclassifiable MDS: This category includes cases where there are low numbers of one or more types of mature blood cells and the cells might look abnormal under a microscope. Sometimes, the blood cells look normal, but tests reveal DNA changes associated with MDS.

Understanding these subtypes helps doctors choose the best treatment approach for each person.

Risk factors

Myelodysplastic syndromes (MDS) are a group of blood disorders. Several factors can make you more likely to develop MDS.

One key risk factor is age. Most people diagnosed with MDS are over 60 years old. As we get older, our bodies' cells can sometimes develop problems. This can be a factor in MDS.

Another risk factor is previous cancer treatment. Treatments like chemotherapy and radiation therapy, which are used to fight cancer, can sometimes damage the bone marrow, which makes blood cells. This damage may increase the chance of developing MDS.

Finally, exposure to certain chemicals can also increase your risk. Benzene, for example, is a chemical frequently linked to MDS. Exposure to harmful chemicals can cause damage to the cells that make blood. This damage could lead to MDS.

Complications

Myelodysplastic syndromes (MDS) can cause various health problems. These problems stem from a malfunction in the bone marrow, the part of your body that makes blood cells. Here are some common complications:

  • Tiredness (Anemia): MDS can lead to a lower-than-normal number of red blood cells. This condition, called anemia, can make you feel weak and tired. You might need more rest or feel out of breath easily.

  • Frequent Infections: MDS can also lower the number of white blood cells, which are crucial for fighting infections. This means you're more likely to get sick with things like colds, the flu, or other infections that might not go away easily. Serious infections could require hospitalization.

  • Bleeding Problems: Platelets are tiny blood cells that help stop bleeding. If you have MDS, you might not have enough platelets. This can lead to easy bruising, nosebleeds, or bleeding that won't stop, even from minor cuts.

  • Risk of Leukemia: In some cases, MDS can transform into a type of blood cancer called leukemia. This happens when the malfunctioning bone marrow starts to produce abnormal blood cells at an uncontrolled rate. While this is a possibility, it doesn't mean everyone with MDS will develop leukemia. Regular medical checkups and monitoring are important.

Diagnosis

To diagnose conditions like myelodysplastic syndrome (MDS), doctors sometimes use a bone marrow aspiration and biopsy. This involves taking a small sample of bone marrow.

How is a bone marrow aspiration and biopsy done?

A healthcare professional uses a thin needle to collect a small amount of liquid bone marrow. This is usually taken from the back of the hip bone (pelvis). Often, a small piece of bone tissue containing the marrow is also removed at the same time. This is called a bone marrow biopsy.

Why might I need a bone marrow aspiration and biopsy?

If a doctor suspects you have MDS, they might order a physical exam, review your medical history, and conduct other tests. These tests help them determine if MDS is present and, if so, what type.

What are some of the tests involved?

  • Blood tests: These are common. Doctors use them to check the number of red blood cells, white blood cells, and platelets in your blood. They also look for any unusual changes in the size, shape, or appearance of these cells.

  • Bone marrow tests (aspiration and biopsy): A thin needle is used to remove a small amount of liquid bone marrow (aspiration). At the same time, a small piece of bone tissue containing marrow is taken (biopsy). These samples are sent to a lab for detailed analysis.

What do the lab results tell us?

The lab looks at the specific features of your blood and bone marrow cells. This helps doctors identify the type of MDS, predict how the condition might progress (prognosis), and choose the best treatment options for you.

Treatment

Myelodysplastic syndromes (MDS) are a group of blood disorders that make it hard for the body to make healthy blood cells. There's no cure, but treatments focus on slowing the disease's progress, easing symptoms, and preventing complications.

Managing MDS:

If you don't have symptoms, your doctor might suggest regular check-ups and blood tests to monitor the disease and see if it's getting worse. Treatment often isn't needed right away in these cases.

Medications for MDS:

Many medications can help with MDS:

  • Growth factors: These are artificial versions of substances naturally found in the bone marrow. They encourage the body to produce more blood cells. For example, growth factors that boost red blood cell production can reduce the need for blood transfusions. Similarly, growth factors that stimulate white blood cell production can help prevent infections.

  • Maturation stimulants: These medications help blood cells develop properly. This can reduce the need for blood transfusions, and in some cases, might slow the progression of MDS to leukemia.

  • Targeted therapies: Some MDS cases are linked to specific gene mutations. If you have a mutation called isolated del(5q), your doctor might recommend a medication called lenalidomide.

  • Anti-infection medications: If MDS causes infections, your doctor will treat those infections directly.

Blood Transfusions:

Blood transfusions, using healthy blood from donors, can replace the missing healthy red blood cells and platelets, helping to manage symptoms.

Bone Marrow Transplant (Stem Cell Transplant):

A bone marrow transplant is the only potential cure for MDS. This procedure involves using high doses of chemotherapy to eliminate the diseased bone marrow cells, and then replacing them with healthy stem cells from a donor (an allogeneic transplant). It's a very serious procedure with significant risks, and is usually only considered for patients who are healthy enough to withstand the treatment.

Less Intense Options for Bone Marrow Transplants:

For older patients or those who might not be strong enough for a typical bone marrow transplant, doctors can use lower doses of chemotherapy drugs. This reduces the risks while still aiming to improve the chances of success.

Ongoing Research:

Researchers are constantly working to find better treatments for MDS. It's a good idea to ask your doctor about any clinical trials you might be eligible for.

Self-care

People with myelodysplastic syndromes (MDS) sometimes have low levels of white blood cells. This makes them more likely to get infections, which can be serious. To help prevent infections:

1. Handwashing is Key: Wash your hands often with warm, soapy water, especially before eating or handling food. Germs can spread easily. If you don't have access to soap and water, use an alcohol-based hand sanitizer.

2. Safe Food Handling: Make sure all meat and fish are cooked thoroughly. This helps kill any bacteria or viruses that might be present. To be extra cautious, avoid raw fruits and vegetables that you can't peel, like lettuce. Even if you can peel them, wash all fruits and vegetables thoroughly before peeling or eating them. To minimize risk, it's a good idea to limit or avoid eating raw foods altogether.

3. Avoiding Sick People: Try to avoid close contact with people who are sick. This includes family members and coworkers. If someone around you is unwell, try to keep your distance to reduce the risk of catching their illness. If possible, limit exposure to sick people to help prevent infections.

Preparing for your appointment

Preparing for a Myelodysplastic Syndrome Appointment

If you're concerned about possible myelodysplastic syndrome (MDS), you'll probably first see your family doctor or primary care physician. If they suspect MDS, they might refer you to a doctor specializing in blood disorders, called a hematologist.

Getting ready for your appointment can help things go smoothly.

Before Your Appointment:

  • Talk to your doctor: When you schedule your appointment, ask if there's anything you need to do beforehand, like changing your diet. This way, you can be prepared.
  • Gather Important Information: Make a list of everything related to your situation:
    • Symptoms: Write down all your symptoms, even if they seem unrelated to MDS. Note when each symptom started.
    • Personal History: List any past cancer treatments or exposure to toxic chemicals.
    • Medications, Vitamins, and Supplements: Include the names, doses, and how often you take each.
    • Questions: Write down every question you have for the doctor.
  • Bring a Support Person: Consider bringing a friend or family member to help you remember what the doctor says.

Important Questions to Ask Your Doctor:

  • Diagnosis: What type of MDS do I have?
  • Further Tests: Will more tests be necessary?
  • Outlook: What is my prognosis (expected outcome)?
  • Leukemia Risk: What is my chance of developing leukemia?
  • Treatment Options: If treatment is needed, what are my options, and which do you recommend?
  • Managing Other Conditions: I have other health conditions. How can I best manage them along with the MDS?
  • Restrictions: Are there any specific restrictions I need to follow?
  • Information Resources: Are there any brochures or other written materials I can get? What websites do you recommend?

Don't hesitate to ask anything else that comes to mind.

During Your Appointment:

  • Be Prepared to Answer Questions: Your doctor will likely ask questions about your symptoms, including:
    • Pattern of Symptoms: Have your symptoms been constant or occasional?
    • Severity of Symptoms: How bad are your symptoms?
    • Possible Relief: Is there anything that seems to improve your symptoms?
    • Possible Worsening Factors: Is there anything that seems to worsen your symptoms?

By being prepared with information and questions, you can have a more productive appointment and better understand your situation.

Address: 506/507, 1st Main Rd, Murugeshpalya, K R Garden, Bengaluru, Karnataka 560075

Disclaimer: August is a health information platform and its responses don't constitute medical advise. Always consult with a licenced medical professional near you before making any changes.

Made in India, for the world