Version May 2024
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MYELODYSPLASTIC SYNDROMES OVERVIEW — The myelodysplastic syndromes (MDS) are a group of blood disorders associated with abnormal blood cell production. Normal blood cells (red cells, white cells, platelets) are formed from stem cells in the bone marrow (the spongy tissue that fills large bones). In MDS, damaged stem cells instead make abnormally low numbers of blood cells that may not be fully effective, leading to symptoms such as fatigue and shortness of breath, or bleeding. The course of MDS can range from mild and chronic to severe and acute.
MDS is more common with advancing age; most people are older than 60 years of age when diagnosed, although MDS can be diagnosed at any age. In most cases the cause of MDS is unknown, but aging is associated with the accumulation of mutations in genes within bone marrow stem cells. A small percentage of people who were treated with certain types of chemotherapy or radiation for other conditions such as cancer can develop a type of MDS called "therapy-related" MDS.
The prognosis of MDS is variable. Some people with MDS live for years and require little or no treatment. For others, MDS is more aggressive and may evolve into acute myeloid leukemia (AML), a disease with a poor prognosis that requires more urgent treatment.
More detailed information about MDS, written for health care providers, is available by subscription. (See 'Professional level information' below.)
CANCER CARE DURING THE COVID-19 PANDEMIC — COVID-19 stands for "coronavirus disease 2019." It is an infection caused by a virus called SARS-CoV-2. The virus first appeared in late 2019 and has since spread throughout the world. Getting vaccinated lowers the risk of severe illness; experts recommend COVID-19 vaccination for anyone with cancer or a history of cancer.
In some cases, if you live in an area with a lot of cases of COVID-19, your doctor might suggest rescheduling or delaying medical appointments. But this decision must be balanced against the importance of getting care to screen for, monitor, and treat cancer. Your doctor can talk to you about whether to make any changes to your appointment schedule. They can also advise you on what to do if you test positive or were exposed to the virus.
SYMPTOMS — Some people have no symptoms when they are diagnosed with MDS, and only find out they have the disorder after laboratory testing is performed for another reason. Others have symptoms related to low blood counts, such as:
●Anemia (low red blood cells) – Anemia is the most common cause of symptoms in MDS. Red blood cells carry oxygen to the body's organs and tissues, and people with too few red cells may be pale, tired, or short of breath.
●Thrombocytopenia (low numbers of platelets) – Platelets help the blood to clot normally. People with low platelet counts may have bleeding and spontaneous bruising.
●Neutropenia (low numbers of neutrophils) – Neutrophils help the body fight infections, so people with neutropenia are more prone to infections.
Most people with MDS seek care due to symptoms of anemia, such as fatigue, weakness, shortness of breath, chest pain, or dizziness. Less commonly, MDS is diagnosed as a result of an infection, easy bruising, or unusual bleeding. Symptoms such as fever and weight loss are uncommon early in the disease.
DIAGNOSIS — MDS can be difficult to diagnose. Certain disorders can resemble MDS because they cause low blood counts or abnormal-appearing blood cells. Through clinical tests, doctors can almost always eliminate other causes and establish a firm diagnosis of MDS. However, this may require a period of observation.
The diagnosis of MDS requires laboratory testing, which may include:
●A complete blood count – This is a blood test that shows the number of red blood cells, white blood cells, and platelets.
●A blood smear – This involves examining a small sample of blood under a microscope to determine the number, size, shape, maturity, and type of blood cells and whether they look normal.
●Examination of the bone marrow – A sample of marrow is removed from the hip and examined for abnormal-appearing ("dysplastic") cells, an increased number of immature cells ("blasts"), and abnormalities of chromosomes and/or certain genes. Chromosome or gene abnormalities in MDS are almost always acquired during a person's lifetime, and thus are unlikely to be passed down to children or grandchildren.
Information from these tests is used to categorize the severity of MDS and estimate a person's prognosis. (See 'Types of myelodysplastic syndrome' below.)
TYPES OF MYELODYSPLASTIC SYNDROME — MDS can vary in severity, need for treatment, and life expectancy.
Pathologic classification — Experts categorize a person's MDS into subgroups based on features of the abnormal cells, including the appearance of the blood cells, the percentage of immature "blast" cells, and the presence of chromosome abnormalities or gene mutations. (See 'Diagnosis' above.)
Prognostic score and risk category — The prognosis of MDS can be estimated using the International Prognostic Scoring System (IPSS), a newer (revised) version, called IPSS-R, or a version that includes genetic (molecular) mutations called the IPSS-M. These scoring systems calculate a "prognostic score" based on some of the same features that are used to classify the type of MDS.
Broadly, the prognostic score can be used to determine if an individual has lower-risk MDS or higher-risk MDS. These categories are useful for predicting certain complications of MDS and for estimating survival. People with lower-risk MDS may live for years before needing treatment. In contrast, people with higher-risk MDS generally have a shorter life expectancy and usually need treatment relatively soon. It is important to remember that prognostic scores cannot predict how long a given individual person will survive; they only provide averages of large groups of people.
TREATMENT — Management of MDS is influenced principally by a person's risk category (based on the prognostic score). (See 'Pathologic classification' above and 'Prognostic score and risk category' above.)
For people without symptoms and with lower-risk MDS, management may simply involve close monitoring for disease progression. People with symptoms related to MDS and those with higher-risk prognostic scores benefit from treatment.
Several treatments for MDS can control symptoms, reduce the risk of complications, and improve the quality of life, and may prolong survival. Treatment choices are influenced by age, overall ability to perform daily tasks, and disease characteristics.
Treatment options — Treatment options for people with MDS typically fall into one of three categories:
●Supportive care – Supportive care is an important part of the management of all people with MDS. This includes transfusions for low blood cell counts, antibiotics for infection, and certain immunizations. (See 'Supportive treatments' below.)
●Low intensity treatment – These treatments include hematopoietic growth factors, low intensity chemotherapy, and other drugs and therapies that generally cause only mild treatment-related side effects and usually do not require hospitalization. (See 'Low intensity treatments' below.)
●High intensity treatment – High intensity therapies include combination chemotherapy (similar to that used for acute leukemia) and stem cell transplantation. These treatments require hospitalization, and they have a higher risk of complications and even death. These treatments are generally prescribed because the increased chance of effectiveness is believed to outweigh the increased risk and complications of treatment. (See 'High intensity treatments' below.)
Treatment recommendations — Treatment varies depending on the type of MDS and whether it is high or low risk (see 'Types of myelodysplastic syndrome' above). Treatment choices may also be influenced by personal preference, based on discussions with your health care provider.
A general approach to the treatment of MDS follows:
●Supportive care is an important part of the management of all people with MDS. (See 'Supportive treatments' below.)
●People with lower-risk MDS are generally treated with low intensity therapy or supportive care alone. (See 'Low intensity treatments' below.)
●Treatment of people with higher-risk MDS may vary according to age, overall health, and personal preference:
•People who are less than about 75 years old and otherwise healthy may be treated with high intensity therapies. (See 'High intensity treatments' below.)
•People who are about 75 years or older or less medically fit may be treated with low intensity therapy or supportive care alone. However, there is no absolute age cut-off at which high intensity therapy is no longer recommended.
There is great interest in clinical trials for improving treatment of MDS. (See 'Clinical trials' below.)
SUPPORTIVE TREATMENTS — Supportive care treats MDS-related problems such as infection or anemia as they arise, rather than trying to cure the underlying disease. Supportive care can improve quality of life and may prolong survival for all people with MDS.
Blood transfusions — Transfusion of red blood cells or platelets can be given to relieve symptoms or when these blood counts become dangerously low. All donated blood and blood products are tested for infectious diseases, and the risk of contracting a disease from transfused blood products is extremely low. (See "Patient education: Blood donation and transfusion (Beyond the Basics)".)
●Red blood cells – Transfusions of red blood cells may be needed to treat symptoms of anemia, including fatigue or shortness of breath. Transfusions of red blood cells can relieve symptoms, but if many are given (usually more than 30 transfusions), an accumulation of iron can occur, with a risk of organ damage ("iron overload"). At extreme levels, this may require special treatment to remove the excess iron (called "iron chelation").
●Platelets – Transfusions of platelets can prevent or treat bleeding problems caused by having too few platelets. Platelets survive for only about a few days, so platelet transfusions may be needed more frequently.
Hematopoietic growth factors — Hematopoietic growth factors promote the growth and development of blood cells and may reduce the need for blood transfusions. However, many people with MDS do not respond adequately to hematopoietic growth factors because of the bone marrow's defective production of blood cells, and the use of growth factors typically does not prolong survival.
There are different types of growth factors:
●Recombinant human erythropoietin (epoetin or darbepoetin) promotes the growth of red blood cells and decreases the need for red blood cell transfusions in many people with MDS.
●Recombinant human granulocyte colony-stimulating factor (G-CSF) stimulates white blood cell (granulocyte) production, and may raise the white blood cell count. G-CSF is generally only used in the setting of a severe infection.
●Thrombopoietin-related agents – Several medications can act like thrombopoietin (a naturally-occurring compound in the body) to increase platelet counts and may improve bleeding or bruising.
Usually, erythropoietin alone is given initially. Both types of growth factors may be given as combination therapy in some settings.
Vaccinations and antibiotics — Vaccines help prevent infections and are especially important for people with MDS who have an increased risk of infections. However, not all vaccines are safe and appropriate for people with MDS, and they may not be as effective in people with MDS.
People with MDS should have yearly influenza vaccines and a pneumococcal vaccine every five years. In general, people with MDS can get "inactivated vaccines," which are vaccines that contain a dead form of a virus. People with MDS usually should not get "live attenuated vaccines," which are vaccines that contain live but weakened copies of a virus.
People with MDS are treated with antibiotics when they have bacterial infections.
LOW INTENSITY TREATMENTS
Low intensity chemotherapy — Certain classes of drugs, or low doses of drugs from other classes, may be suggested for people with lower-risk MDS, or for people with higher-risk MDS who cannot tolerate high intensity treatments. The goal is to enable bone marrow cells to develop more normally and allow improved production of red blood cells, white blood cells, and platelets. Drugs used in this situation include azacitidine, decitabine, decitabine/cedazuridine, and lenalidomide.
Targeted agents/specialized approaches — Other medications may be suggested for people with certain types of MDS. If you have certain chromosome abnormalities or gene mutations, it is more likely that you will respond to these treatments.
As examples:
●5q minus – For MDS with certain chromosome abnormalities (chromosome 5q), treatment with a drug called lenalidomide can often be successful.
●Hypoplastic MDS – Some people with MDS and a reduced number of cells in the bone marrow ("hypoplastic MDS") may respond to certain types of immune suppression therapy.
●Others – Various chromosome abnormalities or gene mutations may respond to "targeted agents," drugs that are specifically directed against these abnormalities. However, data are currently limited and you should ask your health care provider if there is a role for such targeted agents in the treatment of your MDS.
●Low intensity chemotherapy may be given as part of a clinical trial. (See 'Clinical trials' below.)
HIGH INTENSITY TREATMENTS
High intensity chemotherapy — People with higher-risk MDS may be treated with chemotherapy similar to that used for treating acute myeloid leukemia (AML). Chemotherapy is used to destroy abnormal cells or prevent them from growing. For people who are eligible, this may be followed by stem cell transplant, because intensive chemotherapy alone is unlikely to cure MDS.
Intensive chemotherapy may be given as part of a clinical trial. (See 'Clinical trials' below.)
Intensive chemotherapy is only recommended if the person is relatively young (usually <75 years old), with good medical fitness (general health) and a high level of overall function. More information about intensive chemotherapy in the context of AML is available separately. (See "Patient education: Acute myeloid leukemia (AML) treatment in adults (Beyond the Basics)".)
High intensity chemotherapy is not generally recommended for people >75 years old or for people with poor medical fitness or overall function. For these people, the expected benefit (prolonged survival) may not be worth the anticipated discomfort, hospitalization, or risk of death from the effects of chemotherapy.
Stem cell transplantation — Stem cell transplantation (also called hematopoietic cell transplantation or bone marrow transplantation) is the treatment for MDS most associated with long-term survival, although long-term survivors can have complications such as "graft-versus-host disease" (GVHD). As with all therapies, the potential risks of transplant must be considered together with the potential benefits relative to other treatment options.
Although there is a significant chance of cure after stem cell transplantation, transplant-related deaths and relapse can still occur. Because of the balance of risks (GVHD and other toxicity) and benefits (longer survival and possible cure), transplantation is usually suggested only for people with higher-risk MDS. It is generally not suggested for people with lower-risk MDS because of their better overall prognosis. The upper age limit for transplantation is generally 75 years old. However, fitness is probably at least as important as age, and new methods for transplantation are making it available to a broader range of ages and levels of medical fitness. You should talk to a transplantation expert about whether you may be a candidate for some form of transplantation. (See "Patient education: Hematopoietic cell transplantation (bone marrow transplantation) (Beyond the Basics)".)
A "matched related donor" (biologic brother or sister with a similar genetic makeup) is generally believed to be the best source of stem cells for transplantation of MDS. However, a matched unrelated donor may also be effective.
Use of "reduced intensity" chemotherapy treatment before transplantation is associated with fewer complications and allows more people with MDS to be eligible for transplantation. Reduced intensity regimens use less intensive chemotherapy (with or without low dose radiation) before transplantation with matched stem cells. However, the reduction in intensity may be associated with a greater risk of relapse.
PROGNOSIS — For people who are diagnosed with MDS, the estimated length of survival is influenced by the risk category, the presence of underlying medical problems, and age. However, these numbers represent averages, and do not necessarily predict what will happen in your situation. There is considerable variation from person to person, especially in the lower-risk group. Your doctor can help you understand your situation and options. (See 'Prognostic score and risk category' above.)
CLINICAL TRIALS — Many patients will be asked about enrolling in a clinical (research) trial. A clinical trial is a controlled way to study the effectiveness, relative to standard therapies, of new treatments or new combinations of known therapies. Ask your doctor for more information, or read about clinical trials at:
●https://www.cancer.gov/about-cancer/treatment/clinical-trials
Videos addressing common questions about clinical trials are available from the American Society of Clinical Oncology (https://www.cancer.net/research-and-advocacy/clinical-trials/welcome-pre-act).
WHERE TO GET MORE INFORMATION — Your healthcare provider is the best source of information for questions and concerns related to your medical problem.
This article will be updated as needed on our web site (www.uptodate.com/patients). Related topics for patients, as well as selected articles written for healthcare professionals, are also available. Some of the most relevant are listed below.
Patient level information — UpToDate offers two types of patient education materials.
The Basics — The Basics patient education pieces answer the four or five key questions a patient might have about a given condition. These articles are best for patients who want a general overview and who prefer short, easy-to-read materials.
Patient education: Myelodysplastic syndromes (MDS) (The Basics)
Patient education: Neutropenia and fever in people being treated for cancer (The Basics)
Beyond the Basics — Beyond the Basics patient education pieces are longer, more sophisticated, and more detailed. These articles are best for patients who want in-depth information and are comfortable with some medical jargon.
Patient education: Acute myeloid leukemia (AML) treatment in adults (Beyond the Basics)
Patient education: Blood donation and transfusion (Beyond the Basics)
Patient education: Hematopoietic cell transplantation (bone marrow transplantation) (Beyond the Basics)
Professional level information — Professional level articles are designed to keep doctors and other health professionals up-to-date on the latest medical findings. These articles are thorough, long, and complex, and they contain multiple references to the research on which they are based. Professional level articles are best for people who are comfortable with a lot of medical terminology and who want to read the same materials their doctors are reading.
Clinical manifestations, diagnosis, and classification of myelodysplastic syndromes (MDS)
Cytogenetics, molecular genetics, and pathophysiology of myelodysplastic syndromes/neoplasms (MDS)
Overview of the treatment of myelodysplastic syndromes
Treatment of high or very high risk myelodysplastic syndromes
Hematopoietic cell transplantation for acute myeloid leukemia and myelodysplastic syndromes in children and adolescents, section on 'Introduction'
The following organizations also provide reliable health information.
●National Library of Medicine
(https://medlineplus.gov/healthtopics.html)
●The American Society of Hematology
●The Leukemia & Lymphoma Society
●The National Cancer Institute
(https://www.cancer.gov/types/myeloproliferative/patient/myelodysplastic-treatment-pdq)
●National Marrow Donor Program
●The American Society of Clinical Oncology
(https://www.cancer.net/cancer-types/myelodysplastic-syndromes-mds)
●The Aplastic Anemia & MDS International Foundation
(https://www.aamds.org/diseases/mds)
ACKNOWLEDGMENTS
The UpToDate editorial staff acknowledges Elihu H Estey, MD, who contributed as an author for this topic review.
The editors of UpToDate acknowledge the contributions of Stanley L Schrier, MD as author on this topic, his tenure as the founding Editor-in-Chief for UpToDate in Hematology, and his dedicated and longstanding involvement with the UpToDate program.
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