Myelodysplastic Syndrome – Diagnosis and Treatment
Diagnosis
Doctors usually diagnose myelodysplastic syndromes (MDS) by combining medical history, physical exams, and laboratory tests. They often start with a complete blood count (CBC) to check levels of red blood cells, white blood cells, and platelets.
Unusual blood counts—such as anemia, neutropenia, or thrombocytopenia—may point toward MDS. The peripheral blood smear allows close examination of blood cells for abnormal shapes or sizes.
Doctors typically perform a bone marrow aspiration and biopsy next. In this test, a needle removes a sample of soft tissue and bone, most often from the hip.
The marrow is checked for signs like refractory anemia, ringed sideroblasts, or abnormal cell development.
Doctors may also order additional laboratory tests, such as cytogenetic or genetic analysis, to identify chromosomal abnormalities like deletions or duplications linked to MDS.
They often use tools such as the IPSS-R (Revised International Prognostic Scoring System) to stratify risk for prognosis and treatment planning.
Treatment
Receiving Donor Blood
Some people with myelodysplastic syndromes receive blood products from healthy donors. These transfusions add more healthy red blood cells or platelets to the body.
This approach can quickly ease symptoms such as tiredness, weakness, or bleeding.
A doctor may offer red blood cell transfusions if a patient is anemic. Platelet transfusions may lower the risk of bleeding. Transfusions help manage daily life but do not cure the disease.
Key details:
- Quickly raises blood counts.
- Used to treat symptoms like anemia and bleeding.
- Does not stop the disease, but helps with quality of life.
| Type of Transfusion | Main Purpose |
|---|---|
| Red blood cell transfusion | Reduces fatigue |
| Platelet transfusion | Lowers risk of bleeding |
Medicines to Manage the Disease
Doctors may use several types of drugs to support people with myelodysplastic syndromes. Each medication aims to help the body make healthy blood cells or control certain symptoms.
Types of medication:
- Growth Factors: Drugs that act like natural proteins in the bone marrow. These can help the bone marrow grow more red or white blood cells. By stimulating blood production, growth factors may decrease the need for frequent transfusions and lower infection risk.
- Maturation Drugs: Some medicines help blood cells mature properly, making them more useful to the body. Doctors may suggest these if growth factors do not help enough.
- Immune System Suppressors: If the immune system attacks the bone marrow, medicines to calm the immune system may help reduce the need for transfusions.
- Targeted Therapies for Certain Gene Changes: For people with the “isolated del(5q)” genetic change, doctors may offer a medication called lenalidomide to improve blood cell counts.
- Infection Treatment: Some patients are prone to infections due to low white blood cell counts. Doctors may prescribe antibiotics or other drugs to treat or prevent infection.
Doctors will choose a treatment plan based on the person’s health, symptoms, and risk for complications.
Medication table:
| Medication Type | Main Role |
|---|---|
| Growth factors | Make more red or white cells. |
| Maturation drugs | Help blood cells develop. |
| Immune suppressors | Control bone marrow attack. |
| Targeted therapy | Treat gene changes (del5q). |
| Antibiotics/antivirals | Prevent or treat infection. |
Replacing Bone Marrow with Healthy Cells
Some people may undergo a stem cell or bone marrow transplant. This cancer treatment tries to replace unhealthy bone marrow with healthy donor cells.
Doctors first use strong chemotherapy medicines to destroy the patient’s problem cells in the bone marrow. Then, they give donated healthy stem cells, which can build a new, healthy blood system.
A bone marrow transplant carries significant risks. Doctors recommend it only for people healthy enough to handle strong chemotherapy and possible side effects.
In some older people or those with health problems, doctors may use a less intense form of chemotherapy before transplant.
Quick facts:
- Only treatment that may cure myelodysplastic syndromes.
- Serious complications can happen.
- Not everyone is eligible for a transplant.
Summary Table:
| Factor | Regular Bone Marrow Transplant | Reduced-Intensity Transplant |
|---|---|---|
| Chemotherapy dose | High | Lower |
| Potential risks | Higher | Lower |
| Who may qualify | Younger/healthy | Older/fragile |
Doctors and patients should talk carefully about stem cell transplant as a possible treatment option, considering the benefits and risks.
Healthy Habits and At-Home Tips
People with myelodysplastic syndromes are more likely to get infections because of low white blood cell counts.
Washing hands often with soap and warm water is important, especially before meals or food preparation. Carrying hand sanitizer can help when soap and water are not nearby.
It is wise to fully cook all meats and fish and to avoid raw foods when possible. Only eat fruits and vegetables that can be peeled and make sure to wash them well before peeling. Try to keep away from people who are sick.
Tips for daily living:
- Rest often to help manage weakness and tiredness.
- Eat a balanced diet with enough vitamins and nutrition.
- Report side effects like shortness of breath or new symptoms to a healthcare provider.
| Tip | Why it’s important |
|---|---|
| Handwashing | Prevents many infections |
| Well-cooked food | Reduces risk from bacteria |
| Avoid ill people | Lowers chance of illness |
| Balanced meals | Supports overall strength |
Getting Ready for Your Visit
Steps You Can Take Beforehand
Patients may start with their primary care doctor and then see a hematologist or medical oncologist for further care. Preparing in advance can help make the visit more productive.
- Ask about pre-visit instructions. Call the office to check if you need to follow any special steps before your appointment, such as fasting or bringing specific documents.
- Prepare a symptom list. Write down all current symptoms, even if they do not seem related, and note when they started.
- Gather personal health details. Bring information about past treatments, especially cancer treatments or exposure to chemicals.
- List medications. Include all prescriptions, over-the-counter medicines, vitamins, and supplements, along with dosages.
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Prepare questions. Questions for your hematologist or medical oncologist could include:
- What type of blood condition do I have?
- Will more tests be needed?
- What are the possible treatment options?
- What are the risks and outlook?
- How do I manage other health issues with this diagnosis?
Bringing a family member or friend may help remember important details and support you during the visit.
What the Doctor May Ask or Discuss
During the appointment, the hematologist or medical oncologist will often review your symptom list and health history in detail. Be ready to answer questions such as:
- How long have you had these symptoms?
- Do the symptoms come and go, or are they always present?
- What makes the symptoms better or worse?
- Have you noticed any new changes?
