Myelodysplastic syndromes

Title

Other Names:

MDS

Categories:

Blood Diseases

Summary Summary

Myelodysplastic syndromes (MDS) are a group of blood disorders characterized by abnormal development of blood cells within the bone marrow. People with MDS have abnormally low blood cell levels (low blood counts). Signs and symptoms may include dizziness, fatigue, weakness, shortness of breath, bruising and bleeding, frequent infections, and headaches.^[1]^[2] In some people with MDS, the condition progresses to bone marrow failure or develops into acute leukemia.^[1]

MDS develops when a cell with a mutation replicates, and the resulting copies begin to predominate in the bone marrow and suppress healthy stem cells. The mutation may result from a genetic predisposition, or from injury to the DNA caused by an exposure such as chemotherapy or radiation. In many people with MDS there is no obvious exposure or cause.^[3]

Standard treatments for people with MDS and decreased blood counts are constantly changing. The main components of care include transfusions of the types of cells that are deficient and treatment of infections.^[3]

Last updated: 8/16/2017

Symptoms Symptoms

The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.

Signs and Symptoms	Approximate number of patients (when available)
Myelodysplasia	-
Somatic mutation	-

Last updated: 10/1/2017

Cause Cause

The development of MDS involves a series of genetic changes in a hematopoietic stem cell. These changes alter normal cell growth and differentiation (development into different types of blood cells). This results in an accumulation of abnormal, immature cells in the bone marrow and the impaired creation of new blood cells.^[4] Genetic changes leading to the development of MDS may result from an inherited predisposition, or from damage to a cell's DNA ( a somatic mutation) caused by exposure to chemotherapy, radiation, viral infection, or certain chemicals (e.g., benzene). It is classified as "secondary" MDS when it is due to aggressive treatment of other cancers. It also occurs in heavily pre-treated people with autologous bone marrow transplants.^[3]

MDS sometimes runs in families. While the condition itself is not inherited, a person may inherit a predisposition to MDS due to a mutation in the GATA2 gene, TERC gene, or TERT gene.^[5]

Approximately 80% of people with MDS do not have an obvious exposure or cause for MDS. In these cases, the disorder is classified as "primary" or "idiopathic" MDS.^[3]

Last updated: 8/16/2017

Treatment Treatment

FDA-Approved Treatments

The medication(s) listed below have been approved by the Food and Drug Administration (FDA) as orphan products for treatment of this condition. Learn more orphan products.

Decitabine (Brand name: Dacogen® (injection)) - Manufactured by Eisai Medical Research, Inc.
FDA-approved indication: For treatment of patients with myelodysplastic syndromes (MDS) including previously treated and untreated, de novo and secondary MDS of all French-American-British subtypes (refractory anemia, refractory anemia with ringed sideroblasts, refractory anemia with excess blasts, refractory anemia with excess blasts in transformation, and chronic myelomonocytic leukemia) and intermediate-1, intermediate-2, and high-risk International Prognostic Scoring System groups.
National Library of Medicine Drug Information Portal
Lenalidomide (Brand name: Revlimid) - Manufactured by Celgene Corporation
FDA-approved indication: For use in combination with dexamethasone for the treatment of multiple myeloma. Also, for use for the treatment of multiple myeloma (MM), as maintenance following autologous hematopoietic stem cell transplantation (auto-HSCT).
National Library of Medicine Drug Information Portal
Medline Plus Health Information
Azacitidine (Brand name: Vidaza) - Manufactured by Celgene Corporation
FDA-approved indication: Treatment of patients with the following myelodysplastic syndrome subtypes: refractory anemia or refractory anemia with ringed sideroblasts (if accompanied by neutropenia or thrombocytopenia and requiring transfusions), refractory anemia with excess blas
National Library of Medicine Drug Information Portal
Medline Plus Health Information

Do you have updated information on this condition? Let us know.

Research Research

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

ClinicalTrials.gov lists trials that are studying or have studied Myelodysplastic syndromes. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.

Organizations Organizations

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

Aplastic Anemia and MDS International Foundation
4330 East-West Highway, Suite 230
Bethesda, MD 20814
Toll-free: (800) 747-2820
Telephone: (301) 279-7202
Fax: (301) 279-7205
E-mail: help@aamds.org
Website: http://www.aamds.org/
Leukemia and Lymphoma Society
3 International Drive, Suite 200
Rye Brook, NY 10573
Toll-free: 800-955-4572
Telephone: 914-949-5213
Fax: 914-949-6691
E-mail: infocenter@lls.org
Website: http://www.lls.org/
The MDS Foundation
4573 South Broad St., Suite 150
Yardville, NJ 08620
Toll-free: 1-800-MDS-0839
Telephone: 1-609-298-1035
Fax: 1-609-298-0590
E-mail: patientliaison@mds-foundation.org
Website: https://www.mds-foundation.org/
Contact form: https://www.mds-foundation.org/contact-us/

Organizations Providing General Support

American Cancer Society
250 Williams Street NW
Atlanta, GA 30329
Toll-free: 800-227-2345
Website: http://www.cancer.org

Do you know of an organization? Send us your suggestions.

Living With Living With

Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.

Genetics Resources

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by GeneTests, the American College of Medical Genetics, and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.

Financial Resources

Good Days provides help to patients with life-altering conditions. Assistance includes help with the cost of medications and travel.
Patient Access Network Foundation (PAN Foundation) has Assistance Programs for those with health insurance who reside in the United States. The disease fund status can change over time, so you may need to check back if funds are not currently available.

Learn More Learn More

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
The National Cancer Institute provides the most current information on cancer for patients, health professionals, and the general public.
The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In-Depth Information

Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
PubMed is a searchable database of medical literature and lists journal articles that discuss Myelodysplastic syndromes. Click on the link to view a sample search on this topic.

News & Events News & Events

News

Don’t Miss the NCATS Toolkit for Patient-Focused Therapy Development Event
August 31, 2017
Funding Opportunities Now Available for the Undiagnosed Diseases Network (UDN) Phase II
August 30, 2017
IRDiRC Goals 2017-2027: New Rare Disease Research Goals for the Next Decade
August 10, 2017
$100,000 PNH research grant opportunity
June 16, 2015
AA&MDSIF Grant Opportunities
January 22, 2015

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