- What Is MDS?
- How It Develops
- Types of MDS
- Causes & Risk Factors
- Treatment Options
People with low-risk myelodysplastic syndromes (MDS) can live for five years or more with current treatments. People with high-risk MDS, who develop acute myeloid leukemia (AML), have a reduced life expectancy.
MDS has various subtypes, which are detected by blood and bone marrow tests. Your therapy and prognosis depend on the MDS subtype.
The International Prognostic Scoring System-R is the most often used by doctors to determine prognosis. It categorizes MDS into five risk groups.
This prognostic score system will help determine the severity of the disease and the probability of the progression of MDS to AML. The doctor can estimate your life expectancy based on this score.
This system considers three factors to determine the subtype of MDS:
- The type of blood cells that have become abnormal
- Red blood cells
- White blood cells
- Percentage of immature blood cells (blasts) in the body
- The presence of a chromosomal abnormality called deletion 5q in the blood cells
|Risk groups||Median survival rates|
|1. Very low risk||8.8 years|
|2. Low risk||5.3 years|
|3. Intermediate risk||3 years|
|4. High risk||1.6 years|
|5. Very high risk||0.8 years|
What is myelodysplastic syndrome?
Myelodysplastic syndromes (MDS), also called myelodysplasia, are malignancies. They develop when the bone marrow fails to create enough normal blood cells to sustain the body.
They are one of the most common blood cell disorders in older adults. One in every three persons with MDS will develop acute myeloid leukemia. However, for some, MDS is a chronic illness that can be managed with medication.
How does myelodysplastic syndrome develop?
Bone marrow, a soft tissue in the bones, contains stem cells that produce healthy blood cells, including red blood cells, white blood cells, and platelets. With certain genetic abnormalities, the bone marrow loses the ability to produce healthy blood cells and instead, produces immature cells called blasts. This condition leads to the development of myelodysplastic syndromes (MDS).
These blasts are short-lived or are too deformed (dysplastic) to function. They die in the bone marrow or shortly after entering circulation.
The affected person gets fatigued when the blood cell count is low, and vital functions of the blood, such as oxygen delivery, fighting infections, and clotting, are adversely affected. MDS can manifest as anemia, low platelets, or a low white blood count in its mildest form, but 10 to 20 percent of identified MDS cases proceed to acute myeloid leukemia (AML). It is regarded as a pre-leukemic disease.
What are the types of myelodysplastic syndrome?
The World Health Organization classifies myelodysplastic syndrome (MDS) into subgroups depending on the blood cells involved.
Subtypes of MDS
- Myelodysplastic syndromes with single-lineage dysplasia
- Only one type of blood cell is low in number and shows abnormality under the microscope.
- Myelodysplastic syndromes with multilineage dysplasia
- Two or three types of blood cells are identified to be abnormal.
- Myelodysplastic syndromes with ring sideroblasts
- The count of one or more types of blood cells is low.
- Red blood cells in the bone marrow are significantly high in iron, which forms into rings.
- Myelodysplastic syndromes with isolated deletion 5q chromosome abnormality
- People with this subtype have a low amount of red blood cells, and the cell’s DNA has a unique mutation.
- Myelodysplastic syndromes with excess blasts
- Any one type of the three types of blood cells exhibits low count and abnormality.
- Blasts (immature blood cells) are found in bone marrow and blood.
- Myelodysplastic syndromes, unclassifiable
- The count of one or more types of mature blood cells is low and is identified as abnormal under a microscope.
- Some blood cells may appear normal but chromosomal analysis may reveal DNA mutations associated with MDS.
Types of pediatric MDS
- Refractory cytopenia of childhood: Fewer than five percent of blasts are present in the bone marrow.
- Refractory anemia with excess blasts (RAEB): 5 to 20 percent of blasts are present in the bone marrow.
- RAEB in transformation (RAEB-t): 21 to 30 percent of blasts are present in the bone marrow.
What are the causes and risk factors of myelodysplastic syndrome?
Myelodysplastic syndrome (MDS) is classified as primary and secondary MDS. There is no known cause of primary MDS. Secondary MDS develops following aggressive treatment to cure other malignancies in the body. This includes exposure to:
- Alkylating agents
- Topoisomerase II inhibitors
- Autologous bone marrow transplants
Risk factors that increase your odds of developing MDS
- Advancing age: Usually develops in adults older than 60 years.
- Gender: Men are more prone to developing MDS than women.
- Genetic predisposition:
- MDS can run in the family.
- Other diseases caused by inherited genetic mutations can increase the risk of MDS.
- Genetic counseling can detect the risk of acquiring the condition.
- Inherited diseases associated with MDS:
- Environmental factors:
- Exposure to certain environmental factors can cause permanent injury to the hematopoietic stem cells in the bone marrow and lead to MDS. They include:
- Smoking tobacco
- Long-term chemical exposure, such as benzene and several chemicals used in the petroleum and rubber industries
- High-level radiation exposure, such as a nuclear reactor accident or an atomic explosion
- Exposure to certain environmental factors can cause permanent injury to the hematopoietic stem cells in the bone marrow and lead to MDS. They include:
- Previous cancer therapy:
- People who have undergone both chemotherapy and radiation to treat another cancer are at a significantly high risk of developing MDS.
- This does not mean everyone who undergoes these treatments develop MDS.
- Viral infections
MDS does not affect everyone who has risk factors. However, it is recommended to discuss your risk factors with your doctor to take further action.
What are the symptoms of myelodysplastic syndrome?
Early stages of myelodysplastic syndrome (MDS) may not display any signs or symptoms. Some people may experience mild symptoms that gradually worsen over time.
The symptoms that arise are determined by the type of blood cell most impacted. Most people with MDS commonly have anemia (reduced red blood cell count). A low white blood cell count (neutropenia), a low platelet count (thrombocytopenia), or both can indicate MDS.
Many symptoms of MDS are often similar to other medical conditions. Consult a doctor and determine the cause.
Most common symptoms of MDS
- Neutropenia (fever and recurrent infections due to a reduced number of white blood cells)
- Thrombocytopenia (low number of platelets)
- Anemia causes
- Malaise (a general feeling of discomfort or illness)
- Abdominal discomfort or a feeling of fullness
- Loss of appetite
- Unexplained weight loss
- Mood changes
Some are identified with MDS during a routine blood workup for other causes and usually before experiencing any symptoms.
How is myelodysplastic syndrome diagnosed?
Myelodysplastic syndrome (MDS) can be accurately diagnosed with a thorough blood and bone marrow assessment, along with complete medical history and physical examination.
Your doctor may prescribe one or more of the following tests:
- Complete blood count
- Measures the size, quantity, and maturity of various blood cells that reveal how well the bone marrow is functioning.
- A bone marrow test could be recommended if the findings are abnormal.
- Additional blood tests could include blood chemistry, liver, and kidney function evaluations, and genetic investigations.
- Aspiration and biopsy of bone marrow
- A bone marrow sample is aspirated (removing a small amount of the liquid component of the marrow) using a needle inserted into the rear of the hipbone.
- A small portion of the spongy bone with intact marrow could be retrieved.
- To minimize pain or discomfort, local anesthetic and sedation are used.
- Hematopathologists will evaluate the samples under a microscope and may include a chromosomal analysis of the bone marrow.
- Chromosomal analysis (cytogenetic testing)
- Examines all chromosomes, which contain genetic information, to detect abnormalities.
- The test usually takes about a week.
- Cytogenetic investigations are often used to confirm the diagnosis of MDS and distinguish it from specific types of leukemia.
- Helps decide on appropriate treatment.
What are the treatment options for myelodysplastic syndrome?
The primary objective of treatment for myelodysplastic syndrome (MDS) is to achieve remission of the condition. Long-term objectives include curing the condition, which may not always be possible.
- Blood transfusions
- Targeted therapy
- Lenalidomide (a medication) affects cells with a specific genetic defect and reduces the need for blood transfusions.
- Growth factors
- People with low neutrophil counts (white blood cells that fight infection) may benefit from regular injections of granulocyte colony-stimulating factor, a type of protein.
- People may benefit from erythropoietin, which promotes the synthesis of red blood cells, and thrombopoietin, which promotes platelet growth.
- Alters, strengthens, or suppresses the immune system.
- Thalidomide and lenalidomide are orally administered medications and treat a specific type of MDS. These medications boost red blood cell counts and improve bone marrow function.
- Young people with MDS have responded well to antithymocyte globulin and cyclosporine treatment. These medications reduce the body's reaction to certain white blood cells.
- Bone marrow or stem cell transplant
- The only therapy option that may cure MDS.
- Because of the high risk of serious complications, this treatment is normally reserved for people in good enough condition to tolerate it.
- High-dose chemotherapy could be administered intravenously before a stem cell transplant to clear the body of cancer cells.
- Allogeneic transplant
- The defective bone marrow stem cells are replaced by healthy, donor cells.
- Lower-strength chemotherapy medicines can be administered to reduce the hazards of bone marrow transplant in certain cases.
- MDS is not treated or cured by chemotherapy.
- Could be used to treat MDS that has progressed to acute myeloid leukemia or alleviate symptoms.
- The most commonly used chemo drug for the treatment of MDS is cytarabine, and it is usually administered in combination with any one of the following drugs:
- There are high chances of relapse of MDS following chemotherapy; the combinations of drugs are changed periodically.
- Hypomethylating agents
- Capecitabine and azacytidine are intravenously administered drugs that can inhibit cell proliferation and destroy cancer cells by directly acting on genes.
- They are used to treat some types of MDS and acute myeloid leukemia.
Can you prevent the development of myelodysplastic syndrome?
There is no sure way to prevent myelodysplastic syndrome (MDS). However, there are steps you may take to reduce your risk.
- Quit smoking
- Avoid exposure to chemicals and radiation
- Recognized carcinogens in the workplace, such as benzene.
- Radiation and some chemotherapy medicines used to treat cancer can raise the risk of MDS.
Doctors are looking for ways to reduce the risk of MDS in individuals who get certain chemo medications. Doctors may attempt to avoid using these medications for those malignancies that increase the risk of developing MDS.
Some may require these medications even though there is a risk of developing MDS. The benefits must be evaluated against the probability of developing MDS some years later.
Survival Statistics for Myelodysplastic Syndromes. https://www.cancer.org/cancer/myelodysplastic-syndrome/detection-diagnosis-staging/survival.html
MDS - Myelodysplastic Syndromes. https://www.aamds.org/diseases/mds
Myelodysplastic Syndrome in Children. https://www.childrenshospital.org/conditions/myelodysplastic-syndrome
Myelodysplastic Syndromes. https://www.sparrow.org/departments-conditions/conditions/myelodysplastic-syndromes
The Myelodysplastic Syndromes: Diagnosis and Treatment. https://www.sciencedirect.com/science/article/abs/pii/S0025619611616431
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