Myelodysplastic Syndromes (MDS) are disorders affecting the bone marrow, where blood cells are produced. In MDS, the bone marrow fails to produce enough healthy, mature blood cells, leading to low blood counts. While the condition can remain stable, it may progress over time, making it important to understand the signs of progression for effective management.
Recognizing Worsening Symptoms
A decline in blood cell production can manifest as worsening or new symptoms. Increased fatigue, weakness, and unusual paleness are common due to worsening anemia. Individuals might experience shortness of breath, even with minimal exertion, as their body struggles to get sufficient oxygen.
A drop in platelet count, known as thrombocytopenia, can lead to easy bruising or more frequent and severe bleeding, such as nosebleeds or bleeding gums. Tiny red spots, called petechiae, may also appear. These symptoms arise because platelets are essential for blood clotting.
A reduction in healthy white blood cells, particularly neutrophils (neutropenia), can make individuals more susceptible to infections. This might present as more frequent illnesses, infections that are harder to clear, or unexplained fevers and chills.
Key Laboratory Changes
Objective evidence of MDS progression is often detected through changes in routine laboratory tests, especially the complete blood count (CBC). A significant and sustained drop in the counts of red blood cells, white blood cells, or platelets (known as cytopenias) can indicate that the disease is advancing.
A laboratory change is an increase in the percentage of blast cells, which are immature blood cells. Healthy individuals have no blast cells circulating in their peripheral blood, and less than 5% in the bone marrow. Their presence or increasing numbers in the blood can signal progression. These immature cells are dysfunctional and can crowd out the production of normal, mature blood cells in the bone marrow.
A blood smear, where blood cells are examined under a microscope, can also reveal dysplasia. This refers to abnormal shapes, sizes, or appearances of blood cells, which become more pronounced as MDS progresses. These changes in cell morphology, combined with declining cell counts and rising blast percentages, are reliable indicators that MDS is worsening. Regular monitoring of these laboratory parameters is important for managing MDS.
Bone Marrow Evolution and AML Risk
Changes within the bone marrow are important for understanding MDS progression, particularly the risk of transforming into Acute Myeloid Leukemia (AML). A defining characteristic of this progression is an increase in blast cells within the bone marrow. While MDS is characterized by having less than 20% blast cells, AML is diagnosed when this percentage reaches 20% or higher.
This transformation from MDS to AML occurs in approximately 30% to 40% of MDS patients. Bone marrow biopsies assess these important changes, providing a direct view of cellular composition and maturation. These evaluations help determine disease progression and guide treatment decisions.
Specific genetic mutations influence the risk and pattern of MDS progression. For instance, TP53 gene mutations are associated with a higher risk of rapid transformation to AML and a less favorable prognosis. Clonal evolution, involving the acquisition of additional mutations and expansion of new subclones of abnormal cells, contributes to disease progression.
Proactive Monitoring and When to Seek Medical Advice
Regular medical check-ups and adherence to monitoring schedules are important for individuals with MDS. For some, especially those with lower-risk forms, a “watchful waiting” approach might be recommended, where symptoms and lab results are tracked without immediate active treatment. This monitoring typically involves periodic blood tests and sometimes repeat bone marrow examinations.
Contact your healthcare provider immediately if you notice any worsening of symptoms. This includes increased fatigue, more frequent or severe infections with fever or shaking chills, or new or increased bruising and bleeding. Other concerning signs that require medical attention include severe pain, a new cough, sudden vision changes, or blood in stool or vomit.
Maintaining clear communication with your care team is important. Reporting any new or changing symptoms, or concerns about lab results, allows your medical team to assess the situation and adjust your management plan. This collaborative approach helps ensure timely intervention if MDS shows signs of progression.