Rare Hematology News

Disease Profile

Myelodysplastic syndromes

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
1-9 / 100 000

3,310 - 29,790

US Estimated

1-9 / 100 000

5,135 - 46,215

Europe Estimated

Age of onset

All ages

ageofonset-all.svg

ICD-10

-

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

no.svg

Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

no.svg

X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

no.svg

X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

no.svg

Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

no.svg

Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

no.svg

Not applicable

no.svg

Other names (AKA)

MDS; myelodysplasia

Categories

Blood Diseases; Rare Cancers

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] A stem cell transplant may cure the disease, but it is only indicated in selected cases.[4] 

Symptoms

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Medical Terms Other Names
Learn More:
HPO ID
Percent of people who have these symptoms is not available through HPO
Myelodysplasia
0002863
Somatic mutation
0001428

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.[5] 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.[6]

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]

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 Otsuka America Pharmaceutical, 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
    Medline Plus Health Information
  • 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

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

    Organizations Providing General Support

      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.

          References

          1. Myelodysplastic Syndromes. NORD. 2017; https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1139/viewAbstract.
          2. General Information About Myelodysplastic Syndromes. NCI. August 12, 2015; https://www.cancer.gov/cancertopics/pdq/treatment/myelodysplastic/Patient.
          3. Besa EC. Myelodysplastic Syndrome. Medscape Reference. September 28, 2016; https://emedicine.medscape.com/article/207347-overview.
          4. Stem Cell Transplant for Myelodysplastic Syndrome. American Cancer Society. January 22, 2018; https://www.cancer.org/cancer/myelodysplastic-syndrome/treating/stem-cell-transplant.html.
          5. Zhang Y and Le Beau MM. Cytogenetics and molecular genetics of myelodysplastic syndromes. UpToDate. Waltham, MA: UpToDate; July, 2017; https://www.uptodate.com/contents/cytogenetics-and-molecular-genetics-of-myelodysplastic-syndromes.
          6. Hamosh A. MYELODYSPLASTIC SYNDROME; MDS. OMIM. June 5, 2017; https://www.omim.org/entry/614286.

          Rare Hematology News