Summary
Definition
History and exam
Key diagnostic factors
- older age
- asymptomatic
- fatigue
- exercise intolerance
- pallor
- petechiae, purpura
- bacterial infections
Other diagnostic factors
- autoimmune disorders
- splenomegaly
- hepatomegaly
- lymphadenopathy
Risk factors
- age >70 years
- alkylating agents
- topoisomerase inhibitors
- prior hematopoietic stem cell transplantation
- DNA repair deficiency syndromes
- ionizing radiation
- tobacco
- benzene
- aplastic anemia
- paroxysmal nocturnal hemoglobinuria (PNH)
- Down syndrome (trisomy 21)
- congenital neutropenia
Diagnostic investigations
1st investigations to order
- CBC with differential
- reticulocyte count
- red blood cell folate
- serum B12 levels
- iron studies
- HIV testing
- bone marrow aspiration with iron stain
- bone marrow core biopsy
- bone marrow cytogenetic analysis
Investigations to consider
- serum erythropoietin
- HLA typing
- flow cytometry
Treatment algorithm
high-risk disease with suitable donor and good general health
asymptomatic cytopenia(s)
symptomatic cytopenia(s): no chromosome 5q31 deletion
symptomatic cytopenia(s): with chromosome 5q31 deletion
Contributors
Authors
Apar Kishor Ganti, MD, MS, FACP
Staff Physician
VA Nebraska-Western Iowa Health Care System
Professor
Division of Oncology-Hematology
Department of Internal Medicine
University of Nebraska Medical Center
Omaha
NE
Disclosures
AKG has received research support from Amgen, Apexigen, Bristol-Myers Squibb, Janssen, Merck, New Link Genetics, Pfizer, and Takeda Oncology. AKG has been reimbursed for consulting work for AbbVie and Genentech. None of the grants or payments relate to work involving myelodysplastic syndrome.
Alissa Marr, MD
Assistant Professor
Division of Oncology-Hematology
University of Nebraska Medical Center
Omaha
NE
Disclosures
AM declares that she has no competing interests.
Peer reviewers
David P. Steensma, MD, FACP
Associate Professor of Medicine (Hematology) and Oncology
Division of Hematology
Department of Medicine
Mayo Clinic
Rochester
MN
Disclosures
DPS declares that he has no competing interests.
Adrian C. Newland, BA, MB, BCh, MA, FRCP, FRCPath
Professor of Haematology
Queen Mary University
London
UK
Disclosures
ACN declares that he has no competing interests.
Differentials
- Aplastic anemia
- HIV infection
- Acute myelogenous leukemia
More DifferentialsGuidelines
- NCCN clinical practice guidelines in oncology: myelodysplastic syndromes
- Guidelines for the management of adult myelodysplastic syndromes
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