Myelodysplastic syndromes are a group of disorders caused by poorly formed blood cells or ones that don't work properly. Myelodysplastic syndromes result from something amiss in the spongy material inside your bones where blood cells are made (bone marrow).

Treatment for myelodysplastic syndromes usually focuses on reducing or preventing complications of the disease and its treatments. In some cases, treatment might involve chemotherapy or a bone marrow transplant.

Symptoms

Myelodysplastic syndromes rarely cause signs or symptoms in the early stages.

In time, myelodysplastic syndromes might cause:

• Fatigue
• Shortness of breath
• Unusual paleness (pallor) which occurs due to a low red blood cell count (anemia)
• Easy or unusual bruising or bleeding which occurs due to a low blood platelet count (thrombocytopenia)
• Pinpoint-sized red spots just beneath your skin caused by bleeding (petechiae)
• Frequent infections which occurs due to a low white blood cell count (leukopenia)

Causes

In a healthy person, bone marrow makes new, immature blood cells that mature over time. Myelodysplastic syndromes occur when something disrupts this process so that the blood cells don't mature.

Instead of developing normally, the blood cells die in the bone marrow or just after entering the bloodstream. Over time, there are more immature, defective cells than healthy ones, leading to problems such as fatigue caused by anemia, infections caused by leukopenia, and bleeding caused by thrombocytopenia.

Some myelodysplastic syndromes have no known cause. Others are caused by exposure to cancer treatments, such as chemotherapy and radiation, or to toxic chemicals, such as tobacco, benzene and pesticides, or to heavy metals, such as lead.

Types of myelodysplastic syndromes

The World Health Organization divides myelodysplastic syndromes into subtypes based on the type of blood cells — red cells, white cells and platelets — involved.

Myelodysplastic syndrome subtypes include:

• Myelodysplastic syndrome with unilineage dysplasia
• Myelodysplastic syndrome with multilineage dysplasia
• Myelodysplastic syndrome with ring sideroblasts
• Myelodysplastic syndrome associated with isolated del chromosome abnormality
•  Myelodysplastic syndrome with excess blasts — types 1 and 2
• Myelodysplastic syndrome, unclassifiable

Diagnosis

A physical exam, medical history and tests might be used if your doctor suspects you have a myelodysplastic syndrome.Tests might include:

• Blood tests. Your doctor might order a number of blood tests to determine the number of red cells, white cells and platelets and look for unusual changes in the size, shape and appearance of various blood cells.
• Removing bone marrow for testing. During a bone marrow biopsy and aspiration, a thin needle is used to withdraw (aspirate) a small amount of liquid bone marrow, usually from a spot on the back of your hipbone. Then a small piece of bone with its marrow is removed (biopsy). The samples are examined in a laboratory to look for abnormalities.

Treatment

• Blood transfusions
• Medications
• Bone marrow transplant

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