Myelodysplastic syndromes - Symptoms and causes (2024)

Overview

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

Management of myelodysplastic syndromes is most often intended to slow the disease, ease symptoms and prevent complications. Common measures include blood transfusions and medications to boost blood cell production. In certain situations, a bone marrow transplant, also known as a stem cell transplant, may be recommended to replace your bone marrow with healthy bone marrow from a donor.

Symptoms

People with myelodysplastic syndromes might not experience signs and symptoms at first.

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 the skin that are caused by bleeding (petechiae)
• Frequent infections, which occur due to a low white blood cell count (leukopenia)

When to see a doctor

Make an appointment with your doctor if you have signs or symptoms that worry you.

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 too few healthy red blood cells (anemia), infections caused by too few healthy white blood cells (leukopenia) and bleeding caused by too few blood-clotting platelets (thrombocytopenia).

Most 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 benzene.

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 syndromes with single-lineage dysplasia. One blood cell type — white blood cells, red blood cells or platelets — is low in number and appears abnormal under the microscope.
• Myelodysplastic syndromes with multilineage dysplasia. In this subtype, two or three blood cell types are abnormal.
• Myelodysplastic syndromes with ring sideroblasts. This subtype involves a low number of one or more blood cell types. A characteristic feature is that existing red blood cells in the bone marrow contain rings of excess iron.
• Myelodysplastic syndromes with isolated del(5q) chromosome abnormality. People with this subtype have low numbers of red blood cells, and the cells have a specific mutation in their DNA.
• Myelodysplastic syndromes with excess blasts. In this subtype, any of the three types of blood cells — red blood cells, white blood cells or platelets — might be low and appear abnormal under a microscope. Very immature blood cells (blasts) are found in the blood and bone marrow.
• Myelodysplastic syndromes, unclassifiable. In this subtype, there are reduced numbers of one or more types of mature blood cells and the cells might look abnormal under the microscope. Sometimes the blood cells appear normal, but analysis might find that the cells have DNA changes that are associated with myelodysplastic syndromes.

Risk factors

Factors that can increase your risk of myelodysplastic syndromes include:

• Older age. Most people with myelodysplastic syndromes are older than 60.
• Previous treatment with chemotherapy or radiation. Chemotherapy or radiation therapy, both of which are commonly used to treat cancer, can increase your risk of myelodysplastic syndromes.
• Exposure to certain chemicals. Chemicals, including benzene, have been linked to myelodysplastic syndromes.

Complications

Complications of myelodysplastic syndromes include:

• Anemia. Reduced numbers of red blood cells can cause anemia, which can make you feel tired.
• Recurrent infections. Having too few white blood cells increases your risk of serious infections.
• Bleeding that won't stop. Lacking platelets in your blood to stop bleeding can lead to excessive bleeding.
• Increased risk of cancer. Some people with myelodysplastic syndromes might eventually develop a cancer of the bone marrow and blood cells (leukemia).