Myelodysplastic Syndromes (MDS) are a group of disorders in which the bone marrow fails to produce healthy blood cells. The poorly-formed blood cells may not work properly and can cause a wide range of symptoms (depending on which specific type of bloods cells are affected).
MDS is classed as a form of blood cancer, and several different types of the disease have been identified depending on the type of blood cells involved. Most cases of MDS can cause a shortage of blood cells, leading to anemia. However, it may also affect the white cells, the platelets, or some combination of the three.
Treatment for MDS usually focuses on managing symptoms, slowing disease progression, and preventing secondary complications.
Symptoms of MDS
The early stages of MDS are typically symptom-less, and the condition is often detected when a routine blood test reveals a low blood cell count.
When MDS symptoms do eventually develop, their nature often depends on which type of blood cells are involved:
Symptoms of MDS with Low Red Blood Cell Count
A low red blood cell count causes anemia, which is characterized by the following symptoms:
- Shortness of breath
- Pale skin
- Heart palpitations
- Chest pain
Symptoms of MDS with Low White Blood Cell Count
A reduced white blood cell count (neutropenia) compromises the body’s ability to fight infection, and may lead to:
- Skin infections
- Sinus infections (characterized by nasal congestion)
- Lung infections (characterized by coughing and shortness of breath)
- Urinary tract infections (characterized by painful and frequent urination)
Symptoms of MDS with Low Platelet Count
Low platelet count (thrombocytopenia) causes increased susceptibility to bruises and bleeding. MDS patients with thrombocytopenia may experience:
- Bleeding of the gums
- Excessive bruising and bleeding from minor injuries
Subtypes of MDS
The World Health Organization (WHO) has identified six different subtypes of MDS based on the type of blood cells involved 1.
MDS with Unilineage Dysplasia - This form of MDS involves just one type of blood cell (red blood cells, white blood cells, or platelets). The affected cells will be low in number and appear abnormal under a microscope.
MDS with Multilineage Dysplasia - This form of MDS is characterized by two or more types of abnormal blood cells.
MDS with Ring Sideroblasts - MDS with ring sideroblasts affects one or more blood cell types. It is characterized by a ring of excess iron (called a ring sideroblast) in red blood cells in the bone marrow.
MDS Associated with Isolated Del Chromosome Abnormality - This MDS subtype causes low numbers of red blood cells. The affected cells have a specific genetic mutation, which characterizes this form of MDS.
MDS with Excess Blasts - This type of MDS is further divided into two types (type 1 and 2). In both, any of the three types of blood cells may be low in number and appear abnormal under a microscope. This form of MDS is characterized by the presence of blasts (very immature red blood cells) in the blood or bone marrow.
Unclassifiable MDS - This form of MDS is uncommon, and causes reduced numbers of one of the three types of blood cells. Either the white blood cells or platelets may look abnormal under a microscope.
Primary vs. Secondary MDS
Regardless of subtype, MDS may be further classified as primary or secondary MDS 2. Primary MDS is by far the most common of the two, accounting for 80% of all cases. In primary MDS, there is no apparent risk factor or cause of the condition.
Secondary MDS usually develops as a result of DNA damage caused by chemotherapy or radiation treatment. This form of MDS is usually associated with more complex genetic abnormalities, and typically develops between 2 and 10 years after chemotherapy or radiation treatment.
Causes of MDS
While there are known risk factors for MDS (as discussed below), the cause of the condition is often unknown.
MDS develops when the normal functioning of the bone marrow is disrupted. In healthy individuals, the bone marrow produces red blood cells, white blood cells and platelets, which mature in the bone marrow before being released into the bloodstream 3. MDS develops when these blood cells fail to mature, and stay inside the bone marrow in an immature state.
This leads to a shortage of one or more types of blood cells in the body, resulting in a variety of symptoms that significantly impact the quality of life of patients with this MDS.
Though the exact causes of MDS are not yet understood, scientists have identified several genetic mutations linked to this group of syndromes. These mutations usually affect several different genes found in bone marrow cells, and can be inherited. More often, these mutations accumulate over a person’s lifetime, either at random or as a result of exposure to tobacco smoke, radiation, chemotherapy drugs or certain chemicals 4.
Risk Factors for MDS
Researchers have identified several risk factors for the development of MDS:
Age - MDS is usually diagnosed in people over the age of 60. The condition is uncommon in younger people and rare in children.
Gender - Men are slightly more linked to develop MDS than women, and are less likely to survive than female patients 5.
Exposure to Certain Chemicals - Long-term exposure to certain toxins (including tobacco smoke, insecticides, benzene and other chemicals) may increase your risk of developing MDS.
Chemotherapy or Radiation Treatment - People who have undergone chemotherapy or radiation therapy are more likely to develop MDS. Around 20% of MDS patients have previously received chemotherapy or radiation treatment.
Genetics - Several genetic mutations have been identified in association with MDS. These mutations may be inherited (passed on from parent to child), although more often accumulate naturally over the course of a person’s life. This may explain why MDS usually affects older people.
Complications of MDS
Complications of MDS can have a significant impact on a person’s level of health, and may include:
Recurrent Infections - White blood cells are the cells of the immune system, so having too few of them compromises the body’s ability to fight infections. People with MDS are at greater risk of developing pneumonia, gastrointestinal infections, skin infections, sinus infections and urinary tract infections.
Excessive Bleeding - Reduced platelet numbers can stop the blood from clotting, leading to excessive bleeding even in cases of minor injuries.
Anemia - Anemia is a condition caused by low numbers of healthy, red blood cells, and is a common complication of MDS. Symptoms of anemia include fatigue, shortness of breath, heart palpitations, hair loss, pale skin and chest pain.
Increased Risk of Cancer - Around one in three people with MDS will develop a form of blood cancer called acute myeloid leukemia (AML), which is a cancer of the bone marrow. Patients with advanced MDS are at far greater risk of developing AML than those in the early stages of the disease.
Diagnosis of MDS
If you are exhibiting signs and symptoms of MDS, your doctor will first perform a physical examination. They will also ask you to describe your symptoms, personal medical history and family medical history.
Your doctor will also perform a series of tests to aid their diagnosis. These tests may involve an analysis of the blood, bone marrow, or genes 6.
Blood tests for MDS are used to check for two things: the numbers of different types of blood cells, and their appearance under a microscope.
- Blood Cell Counts - When performing a blood cell count, the numbers of red blood cells, white blood cells and platelets will be checked. Low numbers of one or more of these cell types may be an indication of MDS.
- Blood Cell Examination - Blood tests may also be used to look at the appearance of your blood cells under a microscope. In people with MDS, blood cells may be immature or otherwise abnormal.
Bone Marrow Tests
- Bone Marrow Aspiration - During a bone marrow aspiration, a thin needle is used to take a sample of liquid bone marrow for examination.
- Bone Marrow Biopsy - During a bone marrow biopsy, a small amount of solid bone marrow is removed for examination.
Both bone marrow aspiration and bone marrow biopsy are usually performed on an area at the back of the hipbone. The solid and liquid samples are then analyzed to determine what percentage of white blood cells, red blood cells and platelets they contain.
Certain chromosomal abnormalities in blood and bone marrow cells have been identified in connection with MDS. A chromosome test can be used to identify the tell-tale abnormalities that could indicate a case of MDS, and will help your doctor to rule out other blood disorders.
Treatment Options for MDS
In most cases, MDS cannot be cured.
Currently, the only way to cure the condition is with bone marrow stem-cell transplantation 7. However, this is an intensive treatment with potentially life-threatening side effects, and is often unsuitable for older adults (who represent the vast majority of MDS patients).
Therefore, treatment for MDS typically focuses on symptom management, slowing down disease progression and heading off potential complications (such as bleeding and infection).
Medical Treatment of MDS
There are several medications that can help to manage the symptoms and progression of MDS, some of which include:
- Lenalidomide - For patients with MDS associated with the chromosomal abnormality del(5q), lenalidomide may reduce the requirement for red blood cell transfusions.
- Immunosuppressive Therapy - Immunosuppressive therapy is used to suppress the immune system, and may also reduce the need for red blood cell transfusions.
- Azacytidine and Decitabine - These medications are used to stimulate red blood cells to mature. This can reduce a patient’s risk of developing AML, and can help to manage and reduce anemic symptoms.
- Epogen, Procrit, Aranesp - These medications can increase red blood cell count, reducing the need for transfusions and helping to lessen symptoms.
- Neupogen, Zarxio - These medications can increase white blood cell count, helping to protect the body from infections.
- Chemotherapy - Some MDS patients (those with high numbers of blasts in their blood and bone marrow) are at risk of developing leukemia. In these cases, the same chemotherapy regimen used to treat AML may be administered.
Procedural Treatment of MDS
Procedural treatments of MDS include blood transfusion and bone marrow transplant.
- Blood Transfusion - People with MDS have low numbers of red blood cells, white blood cells, or some combination of the three. A blood transfusion may be used to increase cell counts, reduce symptoms, slow disease progression and prevent complications (such as bleeding and infections).
- Bone Marrow Transplant - During a bone marrow transplant, the patient will first undergo a course of intensive chemotherapy to remove all abnormal or defective blood cells from the bone marrow. Next, the abnormal bone marrow stem cells (which are failing to produce healthy blood cells) are replaced with functional bone marrow stem cells (supplied by a healthy donor).
Bone marrow transplants are the only way to cure MDS. However, the procedure may have significant side effects, which makes it unsuitable for the majority of MDS patients.
Lifestyle Changes as Treatment of MDS
Certain forms of MDS cause a low white blood cell count and can make patients more susceptible to infections, which may be recurrent and potentially life-threatening. People with low white blood cells counts can reduce their risk of infection by adopting certain lifestyle choices, such as:
- Frequent Hand Washing - Washing your hands frequently is key for removing harmful pathogens from the skin, and is especially important before meals and food preparation. People with MDS should wash their hands frequently using warm, soapy water to reduce their risk of infection.
- Good Food Hygiene - All fresh produce should be washed thoroughly to remove dirt, and fruits and vegetables that cannot be peeled or cooked should be avoided. People with MDS should also take care to make sure that all meats and fish are cooked well and consumed within their use-by date.
- Avoidance of Ill People - People with MDS need to take extra care to avoid close contact with sick people.
Current MDS Clinical Trials
- The National Myelodysplastic Syndromes (MDS) Study - United States
- DEPLETHINK - LymphoDEPLEtion and THerapeutic Immunotherapy With NKR-2 - United States
- A Study of Cusatuzumab in Combination With Azacitidine Compared With Azacitidine Alone in Patients With Higher-risk Myelodysplastic Syndrome (MDS) or Chronic Myelomonocytic Leukemia (CMML) and Who Are Not Candidates for Hematopoietic Stem Cell Transplantation (HSCT) - Worldwide
- A Study of PLX2853 in Relapsed or Refractory Acute Myeloid Leukemia or High Risk Myelodysplastic Syndrome - United States
- Study of APVO436 in Patients With AML or MDS - United States
Quick Facts About MDS
- Although the number of people in the United States diagnosed with myelodysplastic syndromes isn’t clearly known, some estimates for this number are at around 10,000 cases per year. However, other estimates have concluded that this number is much higher.
- In people below the age of 50, MDS is uncommon. MDS is most frequently diagnosed in individuals older than 70, and the risk of being diagnosed with this condition grows as a person gets older.
- Depending on the level of severity of MDS in a patient, the median survival rate after diagnosis is between 0.4 and 5.7 years.
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