Myelodysplastic Syndrome – Symptoms and Causes

ByJanis Updated

Overview

Myelodysplastic syndromes are disorders where blood cells form poorly or function incorrectly. The problem begins in the bone marrow. This spongy tissue is inside bones and responsible for blood cell production.

Treatment typically focuses on slowing disease progression, reducing symptoms, and preventing complications. Common treatments include:

  • Blood transfusions to replace missing blood cells
  • Medications that help increase blood cell production
  • Bone marrow transplantation in certain cases

A bone marrow transplant (also called stem cell transplant) replaces damaged bone marrow with healthy donor cells. This option may be recommended for specific patients based on their condition and overall health status.

Signs and Symptoms

Myelodysplastic syndromes often develop without early warning signs. Many people don’t notice any symptoms when the condition first begins.

As the condition progresses, several symptoms may appear:

  • Fatigue and weakness
  • Breathing difficulties, especially during physical activity
  • Unusual paleness of the skin due to anemia (low red blood cell count)
  • Easy bruising or bleeding caused by thrombocytopenia (low blood platelet count)
  • Small red spots under the skin (petechiae) from minor bleeding
  • Frequent infections resulting from leukopenia (low white blood cell count)

When to Contact a Healthcare Provider

If you experience any of these symptoms, especially unusual bruising, frequent infections, or ongoing fatigue, schedule an appointment with your doctor. Early evaluation of these symptoms can lead to faster diagnosis and treatment.

Causes

When a person is healthy, the bone marrow creates new blood cells that grow and mature properly. In myelodysplastic syndromes (MDS), this process is disrupted.

The blood cells cannot mature correctly, causing them to die in the bone marrow or shortly after entering the bloodstream.

As time passes, immature and defective cells outnumber healthy ones. This leads to several problems including:

  • Anemia (fatigue due to low red blood cell count)
  • Infections (from insufficient white blood cells)
  • Bleeding issues (from low platelet counts)

Most cases of MDS have no clear cause. However, some cases develop after exposure to:

  • Cancer treatments like chemotherapy or radiation
  • Toxic chemicals such as benzene

Types of Myelodysplastic Syndromes

Doctors classify MDS into several subtypes based on which blood cells are affected. These classifications help determine treatment and outlook.

MDS with Single-Lineage Dysplasia

In this type, only one kind of blood cell (red cells, white cells, or platelets) is low in number and appears abnormal under microscopic examination.

MDS with Multiple-Lineage Dysplasia

This subtype involves two or three blood cell types showing abnormalities.

MDS with Ring Sideroblasts

This form includes low numbers of one or more blood cell types. A key feature is the presence of red blood cells in the bone marrow containing rings of excess iron.

MDS with del(5q) Chromosome Abnormality

People with this subtype have:

  • Low red blood cell counts
  • A specific DNA mutation in their cells

MDS with Excess Blasts

In this form:

  • Any blood cell type might be low and appear abnormal
  • Very immature blood cells (blasts) appear in both blood and bone marrow

Unclassifiable MDS

This subtype shows:

  • Reduced numbers of mature blood cells
  • Cells may look abnormal or sometimes normal
  • DNA analysis may reveal changes typical of MDS even when cells appear normal

Risk Factors

Several factors may raise your chance of developing myelodysplastic syndromes:

  • Age over 60: Most people diagnosed with this condition are seniors.
  • Cancer treatment history: Previous chemotherapy or radiation therapy can damage bone marrow cells.
  • Chemical exposure: Contact with certain substances, particularly benzene, has been connected to the development of these syndromes.

These risk factors don’t guarantee someone will develop the condition, but they may increase the likelihood compared to people without these factors.

Complications

Myelodysplastic syndromes can lead to several serious health problems. These complications can affect daily life and may require medical attention.

Anemia is a common complication. When red blood cell counts drop, your body gets less oxygen. This often causes fatigue and weakness that can interfere with normal activities.

Frequent infections pose another risk. With fewer white blood cells to fight germs, the body becomes more vulnerable to illnesses. These infections may be more severe and harder to treat than in healthy people.

Bleeding problems occur due to low platelet counts. Platelets help blood clot, and without enough of them, even minor cuts or bruises can cause excessive bleeding. Some people may notice:

  • Easy bruising
  • Nosebleeds that won’t stop
  • Bleeding gums
  • Blood in urine or stool

The risk of leukemia increases in some patients. Myelodysplastic syndromes can sometimes progress to acute myeloid leukemia, a type of blood and bone marrow cancer. This happens when the abnormal blood cells grow rapidly and crowd out healthy cells.

The severity of these complications varies from person to person.


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Health Writer

Janis's areas of expertise include nutrition, exercise, stress management, and mental health. She is passionate about educating and empowering people to take control of their health and make positive changes that can last a lifetime. Janis believes that small, sustainable changes are the key to long-term success, and she works with her clients to develop personalized plans that fit their individual needs and lifestyles.