Understanding Myelodysplastic Syndromes: Symptoms, Diagnosis, and Treatment Options

Myelodysplastic syndromes (MDS) are a rare group of blood disorders that occur when the bone marrow fails to produce enough healthy blood cells. The bone marrow is the spongy material inside the bones responsible for creating red blood cells, white blood cells, and platelets. In MDS, the bone marrow produces low numbers of blood cells, leading to low counts of red blood cells, white blood cells, and/or platelets or defective ones, leading to various health issues. Patients with MDS are at risk for developing acute myeloid leukemia (AML).

Who Is at Risk for Myelodysplastic Syndromes?

MDS primarily affects people aged 65 and older, with men being more susceptible than women. However, younger individuals can also develop the condition. Some factors that increase the risk of developing MDS include:

• Previous cancer therapy (chemotherapy or radiation)

• Smoking

• Exposure to benzene, a chemical used in plastics and dyes, heavy metals, tobacco smoke, and aggricultural chemicals/pesticides

• Inherited conditions like Down syndrome, Fanconi anemia, and others

• Certain blood diseases, such as paroxysmal nocturnal hemoglobinuria and congenital neutropenia

Symptoms of Myelodysplastic Syndromes

In the early stages of MDS, individuals may not experience any symptoms. As the condition progresses, the following symptoms may appear:

• Constant fatigue and weakness due to anemia (low red blood cell count)

• Unusual bleeding or bruising

• Tiny red marks under the skin (petechiae)

• Paleness

• Shortness of breath during physical activity

• Frequent infections

• Bone pain

• Mouth ulcers

• Weight loss

Diagnosing Myelodysplastic Syndromes

To diagnose MDS, your doctor will start by reviewing your medical history and conducting a physical examination. They may also perform the following tests:

• Blood tests to count the different types of blood cells

• Bone marrow biopsy to analyze the cells and check for genetic abnormalities

• Genetic analysis of the bone marrow cells

Based on the results, your doctor will determine the specific type of MDS you have, which can help predict the progression of the disease and guide treatment decisions.

Treatment Options for Myelodysplastic Syndromes

The treatment for MDS depends on the type and severity of the condition. Some common treatment options include:

• Watchful waiting for mild cases with regular check-ups

• Low-intensity treatments:

  • Chemotherapy drugs

  • Immunosuppressive therapy

  • Blood transfusions

  • Iron chelation therapy

  • Growth factors

  • Hypomethylating agents (azacitidine, decitabine)

  • Targeted therapy (luspatercept)

• High-intensity treatments:

  • Stem cell transplant (the only potential cure for MDS)

  • Combination chemotherapy

Your healthcare team will work with you to determine the most appropriate treatment plan based on your specific case and overall health.

If you suspect you or a loved one may have myelodysplastic syndrome, it's essential to consult a healthcare professional for an accurate diagnosis and personalized treatment plan. With proper care and management, many individuals with MDS can maintain a good quality of life.

For more information on myelodysplastic syndromes, visit:

• American Cancer Society - Myelodysplastic Syndromes

• The Leukemia & Lymphoma Society - Myelodysplastic Syndromes

• National Heart, Lung, and Blood Institute - Myelodysplastic Syndromes