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Patient education: Myelodysplastic syndromes (MDS) in adults (Beyond the Basics)

Authors
Elihu H Estey, MD
Stanley L Schrier, MD
Section Editor
Richard A Larson, MD
Deputy Editor
Alan G Rosmarin, MD
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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) arise in an orderly manner from immature "stem cells" in the bone marrow (the spongy, red tissue that fills large bones). In MDS, damaged bone marrow stem cells give rise to clones of abnormal blood cells that cause low blood counts and may lead to symptoms. Because the abnormal cells in MDS are clonal, it is considered a type of slowly growing cancer of bone marrow cells.

MDS is more common with advancing age. In most cases the cause of MDS is unknown, but it is probably related to a gradual accumulation of mutations in bone marrow stem cells associated with aging. There is an increased risk for MDS in people who previously received chemotherapy for cancer or other illnesses, although only a small minority of such people develop MDS.

The prognosis of MDS is variable. Some people with MDS live for years with little or no treatment. For others, MDS evolves into acute myeloid leukemia (AML), and life expectancy without successful treatment is only one to two years.

Some people have no symptoms when they are diagnosed with MDS. Others have symptoms related to low blood counts:

Anemia (low red blood cells) – Anemia is the most common cause of symptoms in MDS. Red blood cells carry oxygen to our tissues, and people with too few red cells may be pale, tired, or short of breath.

Thrombocytopenia (low numbers of platelets) – People with low platelet counts may have bleeding and spontaneous bruising, because platelets help the blood to clot normally.

Neutropenia (low numbers of neutrophils) – People with neutropenia are more prone to infections because neutrophils (a type of white blood cell) are needed to fight infections.

MDS can be difficult to diagnose. A number of benign (nonmalignant) disorders can mimic the low blood counts and abnormal appearance of blood/bone marrow cells seen in MDS. Through clinical tests, doctors can usually eliminate other causes and establish a firm diagnosis of MDS. However, this may require a period of observation before the diagnosis can be confirmed.

For most patients, MDS arises without any apparent cause. In some, MDS may develop up to 15 years after treatment with certain forms of chemotherapy or radiation (called "treatment-related" MDS). Most people (approximately 75 percent) are older than 60 years of age when they are diagnosed with MDS, although it can arise at any age, including childhood.

More detailed information about MDS, written for health care providers, is available by subscription. (See 'Professional level information' below.)

SYMPTOMS

Some people with MDS have no symptoms and are diagnosed after laboratory testing is done for another reason.

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

The diagnosis of MDS requires laboratory testing, which includes the following:

A complete blood count indicates the number of red blood cells, white blood cells, and platelets.

A blood smear involves examining a small sample of blood under a microscope to determine the characteristics (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 (1) abnormal-appearing ("dysplastic") cells, (2) an increased number of immature cells ("blasts"), and (3) abnormalities of chromosomes and/or certain genes.

Information from these tests is used for prognosis (likely clinical outcomes) in MDS. (See 'Types of myelodysplastic syndrome' below.)

TYPES OF MYELODYSPLASTIC SYNDROME

MDS is a form of bone marrow/blood cancer with varying degrees of severity, need for treatment, and life expectancy.

MDS is categorized by pathologists based on features of the abnormal cells. The World Health Organization (WHO) classification system criteria are based on blood counts, the percentage of immature bone marrow blast cells, and cytogenetic (chromosome) abnormalities. A person's subgroup may change over time, as the disease progresses.

The clinical severity of MDS can be classified using the revised International Prognostic Scoring Systems (IPSS-R). The IPSS-R considers the percentage of blasts in the bone marrow, the types of blood abnormalities, and a panel of chromosome abnormalities. Based on these criteria, the IPSS-R "score" defines five risk groups: very low, low, intermediate, high, and very high. An earlier version of this prognostic system, called IPSS, included four risk groups, called: low, intermediate-1, intermediate-2, or high.

Treatment recommendations are based on your IPSS-R (or IPSS) risk group. A person with low-risk type MDS may live for many years before needing treatment, while a person with high-risk type MDS usually needs more immediate treatment, without which life-expectancy may not exceed one to two years. However, it is important to remember that the prognostic score cannot predict how long an individual person will survive; half of people will live longer and half will live a shorter period than the median survival of the overall group.

TREATMENT

Management of MDS is influenced by the prognostic score (the IPSS-R or IPSS scores described above) and the pathologic classification (World Health Organization classification).

For people without symptoms and with lower risk IPSS-R/IPSS prognostic scores, close monitoring for disease progression may be appropriate.

People with symptoms related to MDS and those with higher risk prognostic scores may benefit from treatment.

Several treatments for MDS can prolong survival, improve the quality of life, control symptoms, and prevent complications. Treatment choices are influenced by the person's age, performance status (the level of overall function in normal daily tasks), and disease characteristics (such as the IPSS-R or IPSS risk score). Our treatment approach is similar to that proposed by the National Comprehensive Cancer Network (NCCN).

At present, the only proven way to cure MDS is with hematopoietic cell transplantation (sometimes called bone marrow or stem cell transplantation).

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, immunosuppressive treatments (which reduce the activity of the body's immune system), or drugs related to thalidomide. These treatments are less likely to produce serious treatment-related side effects and generally 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 hematopoietic cell transplantation. These treatments may require hospitalization, and they have a higher risk of complications and even death. For some patients with poor prognosis MDS, the increased chance of effectiveness outweighs the increased risk of treatment. (See 'High intensity treatments' below.)

Treatment recommendations — Our general approach to the treatment of MDS is as follows:

Supportive care is an important adjunct to the management of all patients 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.)

People with higher risk MDS who are <70 years old and otherwise healthy are generally treated with high intensity therapies. (See 'High intensity treatments' below.)

People with higher risk MDS who are ≥70 years old are generally treated with low intensity therapy or supportive care alone.

People with intermediate-risk MDS can be treated with either approach.

There is great interest in clinical trials for MDS because none of the current treatment options is truly satisfactory.

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 the quality of life and may prolong survival for all people with MDS.

Blood transfusions — Transfusion of red blood cells or platelets can be given when these blood counts become dangerously low, or to relieve symptoms. A healthy person may donate whole blood or single components, such as red blood cells or platelets. All donated blood and blood products are tested for infectious diseases, and the risk of contracting a disease from transfused blood products is now 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 signs or symptoms of anemia, including fatigue or shortness of breath. An accumulation of iron can cause organ damage ("iron overload") if frequent or multiple transfusions of red blood cells are given (usually more than 30 transfusions). A treatment called "iron chelation" may be recommended to remove excess iron from the body. Medication for iron chelation treatments can be taken by mouth, as an injection under the skin, or into a vein. These treatments have relatively few side effects, but it is unclear if iron chelators prolong or improve the quality of life.

Platelets – Transfusions of platelets can prevent or treat bleeding problems caused by having too few platelets. Platelets survive for only about eight days (compared with about 100 days for red blood cells), 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.

Recombinant human erythropoietin (Epoetin, EPO, Procrit, Epogen, darbepoetin) promotes the growth of red cells and decreases the need for red cell transfusions in about 20 percent of people with MDS.

Recombinant human granulocyte colony-stimulating factor (filgrastim, G-CSF, Neupogen, or Neulasta) or recombinant human granulocyte-macrophage colony-stimulating factor (GM-CSF) stimulate white blood cell (granulocyte) production, and may raise the white blood cell count. G-CSF may be used in the setting of severe infection, but it is not otherwise effective unless it is used with EPO.

Usually, EPO alone is given initially. Both types of growth factors may be given as combination therapy in some settings.

Vaccinations and antibiotics — Vaccines are especially important for people with MDS. People with MDS are at higher risk of infections than other people, and vaccines help prevent infections. Only some vaccines are safe and appropriate for 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. Antibiotics are not usually given to prevent infection ("prophylaxis") unless they are receiving treatments that suppress their immune system further.

LOW INTENSITY TREATMENTS

Low intensity chemotherapy — Low doses of certain types of chemotherapy drugs may be suggested for people with lower risk MDS, or for people with intermediate- or high-risk MDS who cannot tolerate high intensity chemotherapy and/or stem cell (bone marrow) transplantation. 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.

Azacitidine – Azacitidine (brand name: Vidaza) can prolong survival and improve quality of life when compared with supportive treatment alone. A randomized trial reported that patients treated with azacitidine had a median improvement in survival of six to nine months compared to patients who received "best supportive care" only (principally transfusions).

Decitabine – Decitabine (brand name: Dacogen) is similar to azacitidine and appears to produce similar degrees of improvement in median survival.

Lenalidomide – Lenalidomide (brand name: Revlimid) is a thalidomide-like drug that is particularly effective for people with anemia and lower risk MDS with abnormalities of chromosome 5 (called the "5q minus syndrome"). Many such patients treated with lenalidomide no longer require red blood cell transfusions.

Immunosuppressive drugs — In some people with MDS, the immune system causes the bone marrow to reduce the production of blood cells. This may be especially true in people with MDS and a reduced number of cells in the bone marrow (called marrow hypoplasia).

Immunosuppressive treatments may reduce the immune attack on the bone marrow, increase effective blood cell production, and decrease the need for red blood cell transfusions. Younger patients with MDS with marrow hypoplasia are especially likely to respond to immunosuppressive therapies.

Examples of immunosuppressive drugs include antithymocyte globulin (ATG) and cyclosporine. ATG is usually given into a vein once per day for four days while cyclosporine is usually taken by mouth twice per day for as long as it is effective.

Most patients treated with ATG develop an allergic reaction called serum sickness, which causes hives, swelling, and fever. This reaction can be minimized by giving corticosteroid treatment with prednisone along with the ATG.

HIGH INTENSITY TREATMENTS

High intensity chemotherapy — People with intermediate-risk or high-risk type MDS may be treated with chemotherapy similar to that used for treatment of acute myeloid leukemia (AML). Chemotherapy is used to destroy abnormal cells or prevent them from growing. For those patients who are eligible, this is followed by blood or stem cell (bone marrow) transplant, because intensive chemotherapy alone is unlikely to cure MDS.

When possible, we favor intensive chemotherapy that is given as part of a clinical trial. (See 'Clinical trials' below.)

Intensive chemotherapy is only recommended if the person is relatively young (usually <70 years old), with good medical fitness and a high level of overall function ("performance status"). (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 patients >65 years old with poor performance status. For these people, the expected benefit (prolonged survival) may not be worth the anticipated discomfort, hospitalization, or risk of dying from the effects of chemotherapy.

Blood or stem cell transplantation — Hematopoietic cell transplantation (also called bone marrow transplantation or stem cell transplantation) is the only treatment for MDS that has the potential to induce long-term remission or cure. However, the risks of treatment may be greater than the benefits in some situations.

The upper age limit for transplantation is generally 70 to 75 years old. However, transplantation can only be recommended to a minority of patients with MDS because three-quarters of people with MDS are >60 years old at diagnosis. The hematopoietic cell transplantation co-morbidity index (HCT-CI) is an important tool for assessing the risks from transplantation; two patients may have the same age, but differ considerably in HCT-CI. (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 the best source of stem cells for transplantation of MDS. However, a matched unrelated donor may also be an effective source for transplantation. A donor's blood (peripheral blood stem cells) has largely replaced bone marrow as the source of stem cells for transplantation.

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.

Transplantation is not suggested for people with lower risk MDS. Although there is a significant chance of cure after stem cell transplantation in low-risk patients (approximately 60 percent), transplant-related deaths and the relapse rate at five years are also high (as high as 40 percent).

PROGNOSIS

For people who are diagnosed with MDS, the median length of survival is influenced by the IPSS or IPSS-R 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 low-risk group. Your doctor can help you understand your situation and options.

CLINICAL TRIALS

Many patients will be asked about enrolling in a clinical (research) trial. A clinical trial is a carefully 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:

www.cancer.gov/clinicaltrials/

http://clinicaltrials.gov/

Videos addressing common questions about clinical trials are available from the American Society of Clinical Oncology (http://www.cancer.net/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 and diagnosis of the myelodysplastic syndromes
Cytogenetics and molecular genetics of myelodysplastic syndromes
Hematopoietic cell transplantation for Diamond-Blackfan anemia and the myelodysplastic syndromes in children and adolescents
Hematopoietic cell transplantation in myelodysplastic syndromes
Overview of the treatment of myelodysplastic syndromes

The following organizations also provide reliable health information.

National Library of Medicine

(www.nlm.nih.gov/medlineplus/healthtopics.html)

The American Society of Hematology

(www.hematology.org)

The Leukemia & Lymphoma Society

(www.lls.org)

The National Cancer Institute

(http://www.cancer.gov/types/myeloproliferative/patient/myelodysplastic-treatment-pdq)

National Marrow Donor Program

(www.marrow.org)

The American Society of Clinical Oncology

(www.cancer.net/mds)

The Aplastic Anemia & MDS International Foundation

(www.aamds.org/aplastic/disease_information/myelodysplastic_synd/)

[1,2]

Literature review current through: Nov 2017. | This topic last updated: Wed Dec 06 00:00:00 GMT 2017.
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References
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  1. Swerdlow SH, Campo E, Harris NL, et al. WHO classification of Tumors of Haematopoietic and Lymphoid Tissues, IARC Press, Lyon 2008.
  2. Greenberg PL, Tuechler H, Schanz J, et al. Revised international prognostic scoring system for myelodysplastic syndromes. Blood 2012; 120:2454.

All topics are updated as new information becomes available. Our peer review process typically takes one to six weeks depending on the issue.