Myelodysplastic Syndromes (MDS)

The early stages of myelodysplastic syndrome (MDS) are typically symptom-less, and the condition is often detected when a routine blood test reveals a low blood cell count. When MDS symptoms eventually develop, their nature often depends on which type of blood cells are involved.

Symptoms of MDS with a low red blood cell count: A low red blood cell count causes anemia, which is characterized by the following symptoms:

• Fatigue or weakness
• Shortness of breath
• Pale skin
• Heart palpitations
• Chest pain

Symptoms of MDS with a low white blood cell count: A reduced white blood cell count (neutropenia) compromises the body’s ability to fight infections and may lead to

• Skin infections such as boils and abscesses.
• Sinus infections (characterized by nasal congestion).
• Lung infections (characterized by coughing and shortness of breath).
• Urinary tract infections (characterized by painful and frequent urination).
• Fever.

Symptoms of MDS with a low platelet count: A low platelet count (thrombocytopenia) causes increased susceptibility to bruise and bleeding. MDS patients with thrombocytopenia may experience:

• Nosebleeds.
• Bleeding of the gums.
• Excessive bruising and bleeding from minor injuries.

Other common symptoms may include:

• Abdominal discomfort or a feeling of fullness if the spleen or liver is enlarged
• Decreased appetite
• Vomiting

The cause of myelodysplastic syndrome (MDS) is usually unknown. However, in some people, exposure of the bone marrow to radiation therapy or certain types of chemotherapy drugs may play a role.

• When MDS develops without any known cause, it is called de novo MDS.
• MDS is the commonest disease that develops as a side effect of chemotherapy or radiotherapy. It is called therapy-related MDS or t-MDS.
• Some people with MDS have a change, or mutation, in the JAK2 (Janus kinase 2) gene. People with MDS often have changes in certain chromosomes.
• MDS can sometimes be inherited (passed from parent to child).

Risk factors may include:

• Exposure to high-dose radiation from an atomic bomb blast or a nuclear reactor accident
• Pre-existing genetic conditions or disorders
• Long-term workplace exposure to mercury, lead, benzene, petroleum products, fertilizers, pesticides, or chemicals used in the rubber industry
• Smoking cigarettes

Myelodysplastic syndrome (MDS) is usually not curable. The only way to cure the condition is with bone marrow stem-cell transplantation. The treatment for MDS typically focuses on symptom management, slowing down disease progression, and heading off potential complications. Several medications that can help to manage the symptoms some of which include:

• Lenalidomide: This is prescribed for a patient with chromosomal abnormality.
• Immunosuppressive therapy: This suppresses the immune system and may also reduce the need for red blood cell transfusions.
• Azacytidine and Decitabine: These medications are used to stimulate the red blood cells to mature. This can reduce a patient’s further anemic symptoms.
• Epogen, Procrit, and Aranesp: These medications can increase the red blood cell count, reducing the need for transfusions and lessening symptoms.
• Neupogen and Zarxio: These medications can increase the white blood cell count, helping to protect the body from infections.
• Chemotherapy: Chemotherapy is the use of anticancer, or cytotoxic, drugs to destroy cancer cells. It may also be used to treat people with MDS. The most common chemotherapy drugs used to treat MDS are Cytosar and Ara-C (cytarabine). Cytarabine may be combined with Idamycin (idarubicin).

Procedural treatment:

• Blood transfusion: A blood transfusion may be used to increase the cell count, reduce symptoms, slow disease progression, and prevent complications (such as bleeding and infections).
• Bone marrow transplant: During a bone marrow transplant, the patient will first undergo a course of intensive chemotherapy to remove all abnormal or defective blood cells from the bone marrow. Next, the abnormal bone marrow stem cells (which are failing to produce healthy blood cells) are replaced with functional bone marrow stem cells (supplied by a healthy donor). Bone marrow transplants are the only way to cure MDS. However, the procedure may have significant side effects, which makes it unsuitable for the majority of patients with MDS.