10 Common Myelodysplastic Syndrome Symptoms You Should Know

Myelodysplastic syndromes (MDS) are a group of disorders caused by poorly formed or dysfunctional blood cells. These conditions occur when the bone marrow fails to produce healthy blood cells, leading to various complications. MDS primarily affects older adults, with most cases diagnosed in people over 65 years of age. Understanding the symptoms of myelodysplastic syndrome is crucial for early detection and management of this condition.

The symptoms of MDS can vary significantly from person to person, and some individuals may not experience any symptoms in the early stages. However, as the condition progresses, various signs begin to emerge due to the lack of healthy blood cells. In this comprehensive guide, we’ll explore the most common symptoms associated with myelodysplastic syndromes to help you recognize potential warning signs.

1. Persistent Fatigue and Weakness

One of the most prevalent symptoms of myelodysplastic syndrome is persistent fatigue that doesn’t improve with rest. This overwhelming tiredness occurs because the bone marrow fails to produce enough healthy red blood cells, resulting in anemia. Red blood cells are responsible for carrying oxygen throughout your body, and when their numbers are low, your organs and tissues don’t receive adequate oxygen.

Patients with MDS often describe this fatigue as debilitating, affecting their ability to perform daily activities. Unlike normal tiredness that improves after a good night’s sleep, MDS-related fatigue is constant and can be accompanied by general weakness. You may find it difficult to climb stairs, carry groceries, or complete tasks that were once easy. This symptom typically worsens gradually as the condition progresses.

2. Shortness of Breath

Shortness of breath, medically known as dyspnea, is another common symptom resulting from anemia in myelodysplastic syndrome. When your body lacks sufficient red blood cells, your respiratory system tries to compensate by increasing breathing rate to deliver more oxygen to vital organs.

Initially, you might notice breathlessness only during physical exertion, such as walking up stairs or exercising. However, as MDS progresses, shortness of breath can occur even during rest or minimal activity. Some patients report feeling winded after simple tasks like getting dressed or having a conversation. This symptom can significantly impact quality of life and may be accompanied by rapid heartbeat as your cardiovascular system attempts to compensate for low oxygen levels.

3. Pale Skin and Mucous Membranes

Pallor, or unusually pale skin, is a visible sign of anemia associated with myelodysplastic syndrome. The reduced number of red blood cells means less hemoglobin is available to give skin its normal color. This paleness is often most noticeable in areas where blood vessels are close to the skin surface.

Check for pallor in your face, particularly around the eyes and cheeks, as well as in your palms, nail beds, and inside your lower eyelids. The mucous membranes, including the inside of your mouth and gums, may also appear lighter than normal. Family members or friends might notice these changes before you do, as they develop gradually. In people with darker skin tones, pallor may be more evident in the mucous membranes and nail beds rather than on the skin surface.

4. Easy Bruising and Bleeding

Myelodysplastic syndrome often affects the production of platelets, the blood cells responsible for clotting. When platelet counts are low—a condition called thrombocytopenia—patients experience easy bruising and prolonged bleeding from minor cuts or injuries.

You might notice bruises appearing without any remembered injury, or bruises may develop from minimal trauma that wouldn’t normally cause bruising. These bruises, called ecchymoses when large or purpura when smaller, may appear purple, blue, or yellowish-brown. Additionally, you may experience:

• Bleeding gums, especially when brushing teeth
• Frequent nosebleeds that are difficult to stop
• Prolonged bleeding from small cuts or scrapes
• Blood in urine or stool
• Heavy or prolonged menstrual periods in women

5. Petechiae (Small Red Spots on Skin)

Petechiae are tiny red, purple, or brown spots that appear on the skin, typically on the lower legs, ankles, and feet. These pinpoint-sized spots are actually small areas of bleeding under the skin caused by low platelet counts. Unlike a regular rash, petechiae don’t blanch or turn white when you press on them.

In myelodysplastic syndrome, petechiae occur because there aren’t enough platelets to prevent small blood vessels from leaking. While individual spots are tiny—usually only 1-2 millimeters in diameter—they often appear in clusters, creating a speckled appearance on the skin. Petechiae can also appear on the inside of the mouth, on the eyelids, or on other mucous membranes. If you notice these spots appearing suddenly or in increasing numbers, it’s important to seek medical attention promptly.

6. Frequent Infections

People with myelodysplastic syndrome often experience recurrent infections due to low white blood cell counts, particularly neutrophils—a condition called neutropenia. White blood cells are your body’s primary defense against infections, and when their numbers are insufficient or they don’t function properly, you become more susceptible to bacterial, viral, and fungal infections.

Common infections in MDS patients include:

• Respiratory infections such as bronchitis or pneumonia
• Urinary tract infections
• Skin infections or slow-healing wounds
• Oral infections including thrush or mouth sores
• Sinus infections

These infections may be more severe than usual, last longer, or recur frequently. You might also notice that infections don’t respond as quickly to standard treatments. Fever is often a sign of infection and should be taken seriously in individuals with MDS.

7. Fever Without Obvious Infection

Some people with myelodysplastic syndrome experience unexplained fevers—elevated body temperature without an identifiable infection or other clear cause. These fevers may come and go and are thought to result from the release of inflammatory substances by abnormal cells in the bone marrow.

While fever can indicate infection in MDS patients (which requires immediate medical attention), some individuals experience recurrent low-grade fevers even when no infection is present. These fevers might be accompanied by night sweats or chills. If you have MDS and develop a fever above 100.4°F (38°C), it’s important to contact your healthcare provider promptly, as your compromised immune system makes you more vulnerable to serious infections.

8. Bone Pain and Joint Discomfort

Although less common than other symptoms, some individuals with myelodysplastic syndrome experience bone pain, particularly in the long bones of the arms and legs, ribs, or sternum (breastbone). This discomfort occurs because the bone marrow, where blood cells are produced, becomes overcrowded with abnormal cells.

The pain may be described as a deep ache or sharp pain and can be constant or intermittent. Some patients report that the pain worsens at night or with physical activity. Joint discomfort may also occur, sometimes making it difficult to distinguish MDS-related pain from other conditions like arthritis. The sternum may feel tender to touch in some cases. This symptom varies considerably among patients, with some experiencing significant discomfort while others have none at all.

9. Unintentional Weight Loss

Unexplained weight loss is another potential symptom of myelodysplastic syndrome. This occurs for several reasons: decreased appetite due to feeling unwell, increased metabolic demands as your body tries to compensate for dysfunctional blood cell production, and the general systemic effects of the disease.

Weight loss in MDS is typically gradual and may go unnoticed initially. You might find that clothes fit more loosely or that you’ve dropped pounds without changing your diet or exercise habits. Loss of appetite often accompanies weight loss, with patients reporting that food doesn’t taste as good as it used to or that they feel full quickly after eating small amounts. If you’ve lost more than 5% of your normal body weight over 6-12 months without trying, it warrants medical evaluation.

10. Dizziness and Lightheadedness

Dizziness, lightheadedness, and occasional fainting spells can occur in myelodysplastic syndrome, primarily due to anemia. When your brain doesn’t receive enough oxygen-rich blood, you may experience these unsettling sensations, particularly when standing up quickly or exerting yourself.

This symptom, called orthostatic hypotension when related to position changes, can increase the risk of falls and injuries. You might feel:

• A spinning sensation (vertigo)
• Lightheadedness or feeling faint
• Unsteadiness or loss of balance
• A “floating” sensation

These episodes are often worse in the morning, after standing quickly, or in warm environments. Some patients also experience ringing in the ears (tinnitus) or temporary vision changes during dizzy spells. If you experience severe dizziness or actually faint, seek medical attention immediately.

Main Causes of Myelodysplastic Syndromes

Understanding what causes myelodysplastic syndromes can help identify risk factors, though in many cases, the exact cause remains unknown. MDS develops when DNA damage occurs in the bone marrow stem cells, leading to the production of abnormal blood cells. Here are the primary causes and risk factors:

Primary (De Novo) MDS

In most cases, myelodysplastic syndrome occurs without any identifiable cause. This is called primary or de novo MDS. The genetic mutations that lead to abnormal blood cell production develop spontaneously, though advancing age is a significant risk factor. The majority of MDS cases fall into this category.

Previous Cancer Treatment

Secondary MDS can develop as a complication of previous cancer treatments. Chemotherapy drugs, particularly alkylating agents and topoisomerase inhibitors, and radiation therapy can damage the DNA in bone marrow cells, leading to MDS years after treatment. This type is called therapy-related or secondary MDS and tends to be more aggressive than primary MDS.

Exposure to Toxic Chemicals

Long-term exposure to certain industrial chemicals and toxins increases the risk of developing myelodysplastic syndrome. Benzene, a chemical found in gasoline, cigarette smoke, and some industrial processes, is strongly linked to MDS. Other substances include pesticides, heavy metals, and organic solvents. Occupational exposure in industries such as petroleum, rubber manufacturing, and agriculture may elevate risk.

Genetic Factors

Certain inherited genetic disorders predispose individuals to developing MDS. These include Fanconi anemia, Diamond-Blackfan anemia, Shwachman-Diamond syndrome, and familial platelet disorder. People with these rare conditions have a higher lifetime risk of developing myelodysplastic syndromes, often at younger ages than typical MDS patients.

Age-Related Factors

Age is one of the most significant risk factors for MDS. The condition predominantly affects people over 65, with the median age at diagnosis being approximately 70-75 years. As we age, our cells accumulate DNA mutations, and the bone marrow’s ability to repair damage decreases, making older individuals more susceptible to developing myelodysplastic syndromes.

Frequently Asked Questions About Myelodysplastic Syndrome

What is the difference between MDS and leukemia?

Myelodysplastic syndrome and leukemia are both blood disorders affecting the bone marrow, but they differ in severity and cell characteristics. MDS is characterized by ineffective blood cell production and maturation, while leukemia involves rapid proliferation of abnormal white blood cells. However, MDS can progress to acute myeloid leukemia (AML) in approximately 30% of cases, which is why MDS is sometimes referred to as a “pre-leukemia” condition.

Can MDS symptoms appear suddenly or do they develop gradually?

MDS symptoms typically develop gradually over months or even years. Many patients don’t notice any symptoms in the early stages, and the condition is often discovered incidentally through routine blood tests. As the disease progresses, symptoms become more noticeable and may include fatigue, increased infections, and bleeding problems. Sudden symptom onset is less common but can occur if the condition progresses rapidly or transforms into acute leukemia.

Is myelodysplastic syndrome hereditary?

Most cases of MDS are not hereditary and occur spontaneously without a family history. However, rare inherited genetic syndromes can increase the risk of developing MDS. If you have a family history of MDS or related blood disorders, or if MDS is diagnosed at a younger age, genetic counseling may be recommended to assess whether an inherited condition might be involved.

How is MDS diagnosed?

Diagnosis of myelodysplastic syndrome requires several tests, including complete blood count (CBC) to check for low blood cell counts, peripheral blood smear to examine cell appearance, and bone marrow biopsy and aspiration to analyze the bone marrow cells directly. Cytogenetic testing identifies chromosomal abnormalities, and molecular testing looks for specific genetic mutations. Your healthcare provider will use these results along with your symptoms and medical history to confirm a diagnosis.

Can MDS go into remission?

While MDS is generally considered a chronic condition, some patients can achieve remission, meaning symptoms improve and blood counts normalize. The likelihood of remission depends on the MDS subtype, risk category, patient age, and overall health. Treatment approaches vary based on these factors, and your healthcare team can provide information about realistic expectations for your specific situation. It’s important to consult with a specialist experienced in treating MDS.

What should I do if I notice these symptoms?

If you experience persistent fatigue, unusual bruising or bleeding, frequent infections, or other symptoms described in this article, schedule an appointment with your healthcare provider. While these symptoms can be caused by many conditions other than MDS, it’s important to get proper evaluation. Early detection allows for better monitoring and management of the condition. Don’t wait for symptoms to worsen before seeking medical attention.

Does everyone with MDS experience all these symptoms?

No, symptom presentation varies considerably among individuals with myelodysplastic syndrome. Some people may have only one or two symptoms, while others experience multiple symptoms. The specific symptoms you experience depend on which type of blood cells are most affected—red blood cells, white blood cells, or platelets. Some patients, especially in early stages, may have no symptoms at all and are diagnosed only through abnormal routine blood test results.

Can lifestyle changes help manage MDS symptoms?

While lifestyle changes cannot cure MDS, they can help manage symptoms and improve quality of life. Eating a balanced, nutritious diet supports overall health; getting adequate rest helps combat fatigue; practicing good hygiene reduces infection risk; and avoiding activities that could cause injury or bleeding is important when platelet counts are low. However, any lifestyle modifications should be discussed with your healthcare provider to ensure they’re appropriate for your specific situation.

References:

• Mayo Clinic – Myelodysplastic Syndromes
• National Cancer Institute – Myelodysplastic Syndromes Treatment
• Johns Hopkins Medicine – Myelodysplastic Syndromes
• American Cancer Society – Signs and Symptoms of Myelodysplastic Syndromes
• NHS – Myelodysplastic Syndrome (MDS)