The road to an MDS diagnosis is different for everyone. Even with all the advancements in treatments, an MDS diagnosis is upsetting and confusing. It’s important to understand the process of how MDS is diagnosed so you and your family can navigate the difficulties of the diagnosis and gain support and knowledge throughout your journey.
Managing Your MDS Diagnosis and Treatment
MDS
Testing
The path to a Myelodysplastic Syndromes (MDS) diagnosis begins when regular bloodwork comes back with abnormal results. These unusual results in a routine blood test may lead your doctor to refer you to a hematologist (blood specialist). If additional test results are concerning, you may be asked to undergo a bone marrow biopsy.
Blood Tests
A complete blood count (CBC) counts the number of cells of each type, and peripheral blood smears check the number, shape, and size of cells for leukemia.
Bone Marrow Tests
Usually taken from the hip, these tests check samples for genetic changes and any other abnormalities.
Peripheral Blood Smear
A doctor examines a drop of blood to identify changes in number, size, shape, appearance, and maturity of the blood cells. In MDS, the blood cells will have an abnormal shape or size.
Reticulocyte Count
A blood specialist examines blood for immature cells that develop into mature red blood cells. A low reticulocyte count can mean the bone marrow is not working well.
Serum Erythropoietin (EPO)
EPO is a substance made in the kidneys. Erythropoietin stimulates production of red blood cells in the bone marrow. Low EPO can cause anemia and may be a sign of MDS.
Lactate Dehydrogenase (LDH)
LDH is a protein found in cells. When a cell is damaged, LDH is released into the bloodstream. High levels of LDH may be caused by MDS.
What is a
Bone Marrow Test?
Watch a high-level explanation of how bone marrow testing works and what your results may mean.
Types
of MDS
Several types of MDS exist, each characterized by unique features such as the number and type of abnormal blood cells present. The subtype of MDS can affect treatment options and outcome.
The World Health Organization (WHO) recognizes 6 main types of MDS:
MDS-MLD MDS with multilineage dysplasia
MDS-SLD MDS with single lineage dysplasia
MDS-RS MDS with ring sideroblasts
MDS-EB MDS with excess blasts
MDS-5q MDS with isolated del(5q)
MDS-U MDS, unclassifiable
What Is IPSS
and Why Does It Matter?
Understanding your MDS risk level is important for doctors to make treatment decisions. To determine risk level, doctors look at things like blood tests and bone marrow tests which show how a person’s blood cells are changing. Based on these tests, doctors can tell if someone’s MDS is low- risk, intermediate- risk, or high- risk. Knowing this information helps them tailor treatment plans to each individual case. Doctors use a scoring system called the International Prognostic Scoring System (IPSS) to decide how to treat the disease.*
The IPSS is based on 5 factors:
Percentage of Blasts in the bone marrow
Type and Number of DNA abnormalities in the cells
Level of Red Blood Cells in the patient's blood
Level of Platelets in the patient's blood
Level of Neutrophils in the patient's blood
*There are several versions of the IPSS, including the original, the revised, and the molecular. While there are others, these three are the most important.
What is the
IPSS-M Calculator?
Watch a high-level explanation of what the IPSS-M calculator is and how doctors use it to diagnose MDS.
Understanding the
Limitations of IPSS
While the IPSS is an important tool for predicting the outcome of MDS and helping to determine the correct treatment path, it does have limitations. The IPSS system cannot be used in patients who were previously treated for MDS or AML. Additionally, despite putting patients in risk groups, the outcomes don’t always match the prediction.
What Does Low- to High-Risk MDS Look Like?
A patient with low-risk MDS may have:
- Some individuals may be asymptomatic, showing no noticeable symptoms
- Mild symptoms such as fatigue, shortness of breath, and occasional infections
- Blood counts that show mild abnormalities but not severely low levels
- Bone marrow biopsy that shows a low percentage of blast cells (less than 5%)
- Minimal or no genetic abnormalities
A patient with intermediate-risk MDS may have:
- Moderate symptoms such as fatigue, frequent infections, or bleeding issues
- Blood counts that show more significant irregularities, with lower levels of red blood cells, white blood cells, and/or platelets
- Bone marrow biopsy that reveals a higher percentage of blast cells (5-10%)
- May have higher incidence of gene mutations
A patient with high-risk MDS may have:
- Severe symptoms such as intense fatigue, frequent infections that lead to hospitalizations, or significant bleeding complications
- Blood counts that show severe abnormalities with low levels of red blood cells, white blood cells, and/or platelets
- Bone marrow biopsy that shows a high percentage of blast cells (>10%)
- May have higher incidence of gene mutations
- Increased risk of their disease transforming to AML
Progressing
to AML
While many MDS patients remain stable over a long period of time, about 1 in 3 patients will progress to a more aggressive form of blood cancer known as Acute Myeloid Leukemia (AML). This happens when the abnormal cells in the bone marrow start growing quickly and crowd out the healthy blood cells.
AML typically occurs when the stem cells that help produce these types of myeloid cells cannot fully develop. These immature myeloid cells are called myeloblasts and are unable to grow into healthy cells. The myeloblasts can crowd out healthy cells in blood and bone marrow, causing the symptoms of AML to occur.
Types of MDS
Treatments
Treatment for MDS is decided based on your subtype of MDS and your IPSS score. There are several common MDS treatments your doctor may mention:.
If you do not have low blood cell counts or
other symptoms, your doctor may not start you
on treatments immediately, and may opt for
observation.
- Red blood cell transfusions - improve red blood cell counts and help relieve symptoms of anemia
- Platelet transfusions – help improve platelet counts and help reduce the risk of bleeding
- White blood cell growth factors – injections under the skin to reduce the risk of infection
- Iron chelation medications – help reduce side effects of iron overload due to red blood transfusions
- Immunosuppressive therapy – drugs that can lower the body’s immune response to allow bone marrow stem cells to grow and make new blood cells
- Immunomodulators – drugs that modify parts of the immune system and may help fight cancer
- Hypomethylating agents – a type of chemotherapy that works by turning on genes that help kill the cancer cells
- Targeted therapy – drugs that target and attack specific types of cancer cells
- Intensive chemotherapy – used mainly in higher-risk MDS patients
A hospital-based treatment where doctors
inject normal, healthy stem cells into the
body to replace the sick bone marrow stem
cells. Prior to the bone marrow
transplantation, the sick bone marrow cells
are destroyed using chemotherapy and/or
radiation.
New treatments are always being discovered.
Some hospitals may offer clinical trials for
MDS.
After MDS diagnosis, your medical provider will review the stage and subtype of your disease and a treatment plan will be created.
Choosing a
Healthcare Center
Finding the healthcare facility that feels right for
you is an important step in your health journey.
Across the United States, there are several types of
healthcare facilities that offer cancer treatments,
each offering unique benefits and care tailored to
your needs.
Community hospitals
Community hospitals are widely accessible and offer a strong standard of care, often consulting with larger, specialized hospitals.
Academic medical centers
Academic medical centers are at the forefront of medical research and often provide access to innovative therapies and clinical trials.
Comprehensive cancer centers
For those requiring specialized attention, comprehensive cancer centers focus exclusively on cancer care and research.
Three Types of Cancer Healthcare Centers
Watch a high-level explanation of the three different types of healthcare centers and how to choose the right one for you.
Learn More About Targeted Therapies
References
- Journal of Hematopathology. https://link.springer.com/article/10.1007/s12308-011-0088-6. Accessed September 9, 2024.
- American Cancer Society. Tests for Myelodysplastic Syndromes. https://www.cancer.org/cancer/types/myelodysplastic-syndrome/detection-diagnosis-staging/how-diagnosed.html. Accessed March 19, 2024.
- Types of MDS. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9712101/. Accessed September 9, 2024.
- National Library of Medicine. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9712101/. Accessed September 15, 2024.
- IPSS. https://www.lls.org/myelodysplastic-syndromes/diagnosis/international-prognostic-scoring-system. Accessed March 1, 2024
- Memorial Sloan Kettering Cancer Center. Diagnosis of Myelodysplastic Syndrome (MDS). https://www.mskcc.org/cancer-care/types/myelodysplastic-syndrome/diagnosis#:~:text=Blood%20Tests%20to%20Diagnose%20MDS&text=Abnormalities%20in%20this%20test%20provide,levels%20may%20lead%20to%20infections. Accessed August 1, 2024.
- Leukemia & Lymphoma Society. Watch and Wait. https://www.lls.org/myelodysplastic-syndromes/treatment/watch-and-wait. Accessed March 1, 2024.
- Memorial Sloan Kettering Cancer Center. Diagnosis of Myelodysplastic Syndrome (MDS). https://www.mskcc.org/cancer-care/types/myelodysplastic-syndrome/diagnosis. Accessed August 1, 2024.
- Cleveland Clinic. Acute Myeloid Leukemia (AML). https://my.clevelandclinic.org/health/diseases/6212-acute-myeloid-leukemia-aml. Accessed August 2, 2024.
- American Cancer Society. https://www.cancer.org/cancer/managing-cancer/treatment-types/stem-cell-transplant/why-stem-cell-transplants-are-used.html. Accessed August 6, 2024.
- NCCN. https://www.nccn.org/patients/guidelines/content/PDF/mds-patient.pdf. Accessed September 9, 2024.
- Leukemia & Lymphoma Society. Supportive Care. https://www.lls.org/myelodysplastic-syndromes/treatment/supportive-care. Accessed March 1, 2024.
- National Library of Medicine. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5411681/. Accessed September 9, 2024.