Overview
Myelodysplastic syndromes are a group of disorders caused by blood cells that are poorly formed or don't work properly. They result from something amiss in the spongy material inside your bones where blood cells are made (bone marrow). These syndromes can lead to symptoms such as fatigue, shortness of breath, unusual paleness (pallor), and an increased risk of cancer, particularly a cancer of the bone marrow and blood cells called leukemia.
Understanding the disease
Symptoms
Symptoms of myelodysplastic syndromes can include fatigue, shortness of breath, unusual paleness (pallor) due to a low red blood cell count (anemia), easy or unusual bruising or bleeding due to a low blood platelet count (thrombocytopenia), and pinpoint-sized red spots just beneath the skin that are caused by bleeding (petechiae). Additionally, frequent infections can occur due to a low white blood cell count (leukopenia). People with myelodysplastic syndromes might not experience signs and symptoms at first. In time, these disorders can cause a range of problems related to poorly formed or dysfunctional blood cells. If you have signs or symptoms that worry you, it's important to make an appointment with your doctor.
Risk Factors
The risk factors for developing myelodysplastic syndrome include:
- Older age: Most people with myelodysplastic syndromes are older than 60.
- Previous treatment with chemotherapy or radiation: Chemotherapy or radiation therapy, which are commonly used to treat cancer, can increase the risk of myelodysplastic syndromes.
- Exposure to certain chemicals: Chemicals, including benzene, have been linked to myelodysplastic syndromes. Please note that these risk factors might not apply to every individual with myelodysplastic syndromes, and some people might have the condition without any identified risk factors.
Development
Myelodysplastic syndromes develop when there is a disruption in the normal process of bone marrow production, causing the blood cells to not mature properly. This results in an overabundance of immature, defective cells and a decrease in healthy blood cells, leading to symptoms such as fatigue, infections, and bleeding. The subtypes of myelodysplastic syndromes are based on the specific blood cells involved, and they are classified by the World Health Organization. There are several subtypes, including those with isolated del(5q) chromosome abnormality, excess blasts, and unclassifiable subtypes. Risk factors for myelodysplastic syndromes include older age and a history of cancer or cancer treatment.
Assessment and Diagnosis
Triage
You should see a doctor if you have any persistent signs and symptoms that worry you, particularly if you are experiencing fatigue, shortness of breath, unusual paleness, or other symptoms . Since myelodysplastic syndromes can increase the risk of developing leukemia, it's essential to consult with a healthcare professional for proper evaluation and management.
Diagnosis
To diagnose myelodysplastic syndrome, a doctor may use a combination of physical exams, medical history, and various tests. These tests may include blood tests to determine the number of red cells, white cells, and platelets, as well as checking for unusual changes in the size, shape, and appearance of different blood cells. A bone marrow biopsy and aspiration might also be performed to withdraw a small amount of liquid bone marrow for laboratory analysis, which can help determine the specific characteristics of the cells and help determine the type of myelodysplastic syndrome, prognosis, and treatment options.
Management and Treatment
Complications
The potential complications of myelodysplastic syndromes include anemia, recurrent infections, bleeding that won't stop, and an increased risk of cancer (leukemia).
Treatment
Treatments for myelodysplastic syndromes aim to slow the disease, alleviate symptoms, and prevent complications. Common treatments 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 the affected person's bone marrow with healthy bone marrow from a donor. Medications that may be used to treat myelodysplastic syndromes include:
- Erythropoietin (EPO): This medication stimulates the production of red blood cells and can help alleviate anemia-related symptoms like fatigue.
- Granulocyte-colony stimulating factor (G-CSF): This medication stimulates the production of white blood cells, helping to combat infections.
- Platelet growth factors: These medications help increase platelet production, reducing the risk of bleeding.
- Chemotherapy: In some cases, chemotherapy may be used to slow the progression of myelodysplastic syndromes or to control symptoms. It is important to consult a healthcare professional for personalized treatment recommendations based on the individual's specific condition and severity of symptoms.
Preparing for medical consultation
To prepare for an appointment for myelodysplastic syndrome, you should:
- Make a list of your symptoms, including any that seem unrelated to the reason for the appointment, and when they began.
- Gather information about your personal health history, such as previous cancer treatment or exposure to toxic chemicals.
- Create a list of all medications, vitamins, and supplements you are taking, including doses.
- Consider bringing a family member or friend along to help you remember information from the appointment.
- Prepare a list of questions to ask your doctor, such as the type of myelodysplastic syndrome you have, the need for additional tests, your prognosis, your risk of leukemia, and treatment options. Remember to ask if there are any pre-appointment restrictions, such as dietary changes or activities to avoid. Be ready to discuss your symptoms, medical history, and any concerns you have.