Symptoms, Risk and Diagnosis of Myelodysplastic Syndromes

What are the symptoms of myelodysplastic syndromes?

The symptoms of myelodysplastic syndromes vary according to the type (or types) of blood cells affected. When MDS causes a shortage of healthy red blood cells in the blood stream, the blood can’t carry oxygen around the body effectively. This condition, known as anemia, produces a number of symptoms:

• Difficulty breathing
•  Feeling tired or fatigued
• Unusually pale skin
• Heart palpitations
• Chest pain

When MDS creates a shortage of normal platelets (or “thrombocytopenia”), the blood doesn’t clot as quickly as it should. You may notice:

• Excessive bruising
•  More frequent bleeding, sometimes in the form of nosebleeds and bleeding gums
• Petechiae (little red dots under the skin caused by bleeding)

When MDS prevents the bone marrow from producing enough normal white blood cells (a condition called “neutropenia”), patients are more likely to become ill with frequent infections and fevers. You may find that you are struggling to fight off repeated sinus infections, skin infections, lung infections, or urinary tract infections.

Patients with MDS may also experience:

• Weight loss
• Pain in the bones, caused by an accumulation of dying and defective cells in the marrow
• Lack of appetite

What are the risk factors for MDS?

Most persons diagnosed with MDS are over 60 years old. Other potential catalysts for MDS include:

•  Radiation and chemotherapy
•  Industrial or environmental chemicals, such as pesticides, benzene, and tobacco smoke

Patients who have undergone radiation or chemotherapy to treat a different cancer sometimes develop MDS. When MDS is connected to therapies for a previous cancer, it is called “therapy-related MDS.” Cases of therapy-related MDS are more likely to turn into acute myeloid leukemia.

How is MDS diagnosed?

MDS is diagnosed through tests of the blood and bone marrow. Most of these tests are simple and can be performed in an ordinary doctor’s office. Blood tests will likely include a complete blood count, which will detect shortages (or “cytopenias”) of any or all types of blood cells, and a peripheral blood smear, which will allow your doctor to examine your cells for signs of abnormality.

Bone marrow tests will include a bone marrow aspiration and biopsy. In this test, your doctor will numb an area of skin over your hipbone. He or she will then collect small samples of blood, bone marrow, and bone through a hollow needle placed in the numb area. The samples are evaluated under a microscope for evidence of dysplasia.

A pathologist will diagnose MDS based on the appearance of your cells and your blood counts. In general, more than 10% of your cells must be dysplastic, or abnormally-shaped, and you must have at least one “peripheral cytopenia,” or blood cell shortage.

Scoring MDS

Cases of MDS are evaluated, or scored, in order to determine how likely they are to progress to acute myeloid leukemia and what the patient’s overall outcome might be. Physicians score MDS according to five factors:

• How many blasts there are in the bone marrow
• Whether chromosome abnormalities are present in the cells, and, if so, what kind and how many
• Red blood cell count
• White blood cell count
• Platelet count

The scores are added up, and the final score is used to rank the patient as:

• Very low risk
• Low risk
• Intermediate risk
• High risk
• Very high risk

Scoring a patient’s MDS is an important first step in treatment. It helps doctors decide on a course of action that will be safest and most effective for the patient as a whole.