Myelodsplastic syndrome

What are the causes of Myelodysplastic syndromes (MDS)?

In an individual with robust health, the bone marrow produces new, immature blood cells that gradually mature over time. Myelodysplastic syndromes manifest when this intricate process is disrupted, failing blood cells to mature fully.

Rather than progressing through the normal developmental stages, blood cells in MDS either perish within the bone marrow or shortly after entering circulation. Over time, the prevalence of immature and defective cells surpasses that of healthy ones, leading to various complications. These include fatigue due to insufficient healthy red blood cells (anemia), susceptibility to infections from inadequate white blood cells (leukopenia), and a propensity for bleeding due to decreased blood-clotting platelets (thrombocytopenia).

The aetiology of most myelodysplastic syndromes remains unknown. However, some cases are attributable to exposure to cancer treatments like chemotherapy and radiation or harmful substances such as benzene.

What are the risk factors of Myelodysplastic syndromes?

Factors that may elevate the risk of myelodysplastic syndromes include:

• Advanced age. The majority of individuals diagnosed with myelodysplastic syndromes are aged 60 or older.

• History of chemotherapy or radiation therapy. Prior exposure to chemotherapy or radiation, commonly utilized in cancer treatment, can heighten the likelihood of developing myelodysplastic syndromes.

• Exposure to specific chemicals. Certain chemicals, such as benzene, have been associated with an increased risk of myelodysplastic syndromes.

What are the symptoms of Myelodysplastic syndromes?

The symptoms of MDS vary based on the stage of the disease and the types of blood cells affected.

MDS is typically progressive, with early stages often presenting no noticeable symptoms. In many cases, MDS is incidentally discovered during routine blood tests conducted for unrelated reasons.

As the disease advances, reduced levels of blood cells can lead to diverse symptoms depending on the specific cell type impacted. Individuals may experience a range of symptoms if multiple cell types are affected.

1. Red Blood Cells:

Red blood cells (RBCs) are responsible for oxygen transport in the body. Anemia, characterized by a low RBC count, is the predominant cause of MDS symptoms, which may manifest as:

• Fatigue
• Weakness
• Pallor (pale skin)
• Shortness of breath
• Chest pain
• Dizziness

2. White Blood Cells:

White blood cells (WBCs) play a crucial role in combating infections. Decreased WBC counts (neutropenia) are linked to symptoms of bacterial infections, the nature of which varies based on the infection site. Typically, individuals may experience fever along with:

• Pneumonia (lung infection): Characterized by cough and breathing difficulties.
• Urinary tract infection (UTI) Often presents with painful urination and blood in the urine.
• Sinus infection: Symptoms may include nasal congestion and sinus pressure.
• Skin infection: Known as cellulitis, it can result in warm, tender areas on the skin that may discharge pus.

3. Platelets:

Platelets are essential for blood clot formation and haemostasis. Symptoms of reduced platelet counts (thrombocytopenia) can include:

• Easy bruising
• Excessive bleeding that is difficult to control
• Petechiae (small, flat red or purple spots under the skin caused by bleeding)

What are the complications that can happen due to Myelodysplastic syndromes?

When blood cell counts decline significantly, various complications may arise, each distinct to the type of blood cell affected. Here are some examples:

1. Severe Anemia: This can cause profound fatigue, difficulty concentrating, confusion, and light-headedness when standing due to dizziness.

2. Severe Neutropenia: This increases the risk of recurrent infections and can lead to life-threatening sepsis.

3. Severe Thrombocytopenia: This can result in persistent nosebleeds, bleeding gums, and internal bleeding, such as from an ulcer, that is challenging to control.

Over time, MDS has the potential to progress into another form of blood cancer known as acute myeloid leukemia (AML).

What is the diagnosis of Myelodysplastic syndromes?

The distinctions between various blood disorders categorized under MDS are contingent upon the specific blood cell types affected and any alterations observed in the bone marrow. Physicians can conduct targeted assessments to pinpoint the particular subtype present.

During the diagnostic process for MDS, individuals can anticipate undergoing some or all of the following procedures:

• Review medical history, including inquiries about symptoms, medical conditions, prior injuries, and current medications.
• Physical examination to detect signs indicative of MDS, such as infection, bruising, or discomfort.
• Blood tests to evaluate the quantity and health status of blood cells.
• Bone marrow biopsy and aspiration, wherein a small bone and bone marrow sample is extracted under anaesthesia for further examination.
• Genetic testing to identify any aberrations or mutations in the genes associated with MDS.

How are Myelodysplastic syndromes treated?

There is no definitive cure for MDS, although ongoing research endeavours are exploring potential new therapeutic approaches.

Treatment strategies are tailored to each individual and typically involve supportive care to alleviate symptoms and manage recurrent infections commonly associated with MDS. Supportive measures may encompass interventions such as blood transfusions or antibiotic therapy.

Additionally, a healthcare provider may recommend one or more of the following treatment modalities:

1. Chemotherapy: Intravenous administration of medications aimed at eradicating malignant blood cells.

2. Immunotherapy: Medications that stimulate the immune system's response against myelodysplastic cells.

3. Bone marrow transplant: Replacement of damaged or mutated stem cells with healthy ones.

While these treatment options offer potential benefits, they may also entail side effects. For instance, chemotherapy can induce nausea and vomiting, while immunotherapy might lead to fatigue and fever. The nature and severity of side effects vary among individuals and depend on the specific treatment regimen.

To enhance their quality of life during treatment, individuals may consider adopting the following measures:

• Maintaining a well-balanced, nutritious diet.
• Engaging in regular physical activity whenever feasible.
• Seeking emotional support from friends and family members.
• Participating in activities promoting mindful relaxation techniques.

When to see the doctor

Schedule an appointment with your healthcare provider if you experience any concerning signs or symptoms.