Summary
Definition
History and exam
Key diagnostic factors
- older age
- fatigue
- exercise intolerance
- pallor
- bruising or bleeding
- prior chemotherapy and/or radiation therapy
- congenital disorder
- bacterial infections
Other diagnostic factors
- autoimmune disorders
- splenomegaly
- hepatomegaly
- lymphadenopathy
Risk factors
- age >70 years
- prior chemotherapy
- prior radiation therapy
- prior autologous hematopoietic stem cell transplantation
- congenital disorders
- tobacco
- benzene
- aplastic anemia
- paroxysmal nocturnal hemoglobinuria (PNH)
Diagnostic investigations
1st investigations to order
- CBC with differential
- peripheral blood smear
- reticulocyte count
- red blood cell folate
- serum vitamin B12
- iron studies
- bone marrow aspiration with iron stain
- bone marrow core biopsy
- genetic testing
Investigations to consider
- viral serology
- serum erythropoietin
- lactate dehydrogenase
- HLA typing
- flow cytometry
Treatment algorithm
lower-risk MDS: asymptomatic cytopenia(s)
lower-risk MDS: symptomatic cytopenia(s) without del(5q)
lower-risk MDS: symptomatic cytopenia(s) with del(5q)
higher-risk MDS: transplant candidate
higher-risk MDS: nontransplant candidate
Contributors
Authors
Vijaya Raj Bhatt, MBBS, MS
Associate Professor
Section Leader, Malignant Hematology
University of Nebraska Medical Center Division of Hematology-Oncology
Nebraska
NE
Disclosures
VRB has participated in a Safety Monitoring Committee for Protagonist Therapeutics. He has received consulting fees from Imugene; research funding (institutional) from Abbvie, Pfizer, Incyte, Jazz, and NMDP; and drug support (institutional) from Chimerix for a trial.
Prajwal Dhakal, MBBS
Clinical Assistant Professor of Internal Medicine-Hematology, Oncology, and Blood and Marrow Transplantation
University of Iowa
Iowa City
IA
Disclosures
PD declares that he has no competing interests.
Acknowledgements
Dr Vijaya Raj Bhatt and Dr Prajwal Dhakal would like to gratefully acknowledge Professor Apar Kishor Ganti and Associate Professor Alissa Marr, previous contributors to this topic.
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. 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
- Other viral infections (e.g., parvovirus, CMV, or hepatitis)
More DifferentialsGuidelines
- NCCN clinical practice guidelines in oncology: myelodysplastic syndromes
- Guidelines for the management of adult myelodysplastic syndromes
More GuidelinesLog in or subscribe to access all of BMJ Best Practice
Use of this content is subject to our disclaimer