Myelodysplastic Syndrome Clinical Presentation

  • Author: Emmanuel C Besa, MD; Chief Editor: Koyamangalath Krishnan, MD, FRCP, FACP   more...
 
Updated: Oct 10, 2011
 

History

The development of myelodysplastic syndrome (MDS) may be preceded by a few years by an unexplained macrocytic anemia with no evidence of megaloblastic anemia and a mild thrombocytopenia or neutropenia. Clinical symptoms that should prompt a workup for MDS are due to low peripheral blood counts, usually from the anemia or thrombocytopenia or neutropenia.

Symptoms such as fatigue and malaise result from anemia. Signs and symptoms of chronic heart failure may develop in patients with underlying cardiac problems, depending on the degree of anemia.

Petechiae, ecchymoses, and nose and gum bleeding are common manifestations of a low platelet count. If underlying dysplastic changes were missed initially, thrombocytopenia as the presenting symptom may be mistaken for immune thrombocytopenia.

Fever, cough, dysuria, or shock may be manifestations of serious bacterial or fungal infections associated with neutropenia.

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Physical Examination

On physical examination, patients with myelodysplastic syndrome (MDS) may have evidence of thrombocytopenia, anemia, and/or neutropenia. Thrombocytopenia typically manifests as petechiae or ecchymoses; epistaxis and gum bleeding suggest severe thrombocytopenia. Hemoptysis, hematuria, and blood in stools may occur.

Pallor of the skin and mucosal membranes or evidence of fatigue, tachycardia, or congestive heart failure may be manifestations of severe anemia.

An enlarged spleen may be found in persons with chronic myelomonocytic leukemia (CMML), often indicating an overlap syndrome with MDS. CMML must be differentiated from chronic myelogenous leukemia (CML). Patients with an enlarged spleen may have complications related to spontaneous rupture and intra-abdominal exsanguination.

The presence of fever and infections, such as pneumonias and urinary tract infections, may be due to the neutropenia associated with MDS.

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Contributor Information and Disclosures
Author

Emmanuel C Besa, MD  Professor, Department of Medicine, Division of Hematologic Malignancies, Kimmel Cancer Center, Jefferson Medical College of Thomas Jefferson University

Emmanuel C Besa, MD is a member of the following medical societies: American Association for Cancer Education, American College of Clinical Pharmacology, American Federation for Medical Research, American Society of Clinical Oncology, American Society of Hematology, and New York Academy of Sciences

Disclosure: Nothing to disclose.

Coauthor(s)

Ulrich Josef Woermann, MD  Consulting Staff, Division of Instructional Media, Institute for Medical Education, University of Bern, Switzerland

Disclosure: Nothing to disclose.

Chief Editor

Koyamangalath Krishnan, MD, FRCP, FACP  Paul Dishner Endowed Chair of Excellence in Medicine, Professor of Medicine and Chief of Hematology-Oncology, James H Quillen College of Medicine at East Tennessee State University

Koyamangalath Krishnan, MD, FRCP, FACP is a member of the following medical societies: Alpha Omega Alpha, American College of Physicians-American Society of Internal Medicine, American Society of Hematology, and Royal College of Physicians

Disclosure: Nothing to disclose.

Additional Contributors

Francisco Talavera, PharmD, PhD Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Medscape Salary Employment

References

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  6. Rollison DE, Howlader N, Smith MT, et al. Epidemiology of myelodysplastic syndromes and chronic myeloproliferative disorders in the United States, 2001-2004, using data from the NAACCR and SEER programs. Blood. Jul 1 2008;112(1):45-52. [Medline]. [Full Text].

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Blood film (1000× magnification) demonstrating a vacuolated blast in a refractory anemia with excess of blasts in transformation. Courtesy of U. Woermann, MD, Division of Instructional Media, Institute for Medical Education, University of Bern, Switzerland.
This bone marrow film (400× magnification) demonstrates an almost complete replacement of normal hematopoiesis by blasts in a refractory anemia with an excess of blasts in transformation. Note the signs of abnormal maturation such as vacuolation, double nucleus, and macrocytosis. Courtesy of U. Woermann, MD, Division of Instructional Media, Institute for Medical Education, University of Bern, Switzerland.
Bone marrow film (1000× magnification) demonstrating ring sideroblasts in Prussian blue staining in a refractory anemia with excess of blasts in transformation. Courtesy of U. Woermann, MD, Division of Instructional Media, Institute for Medical Education, University of Bern, Switzerland.
Bone marrow film (1000× magnification) demonstrating granular and clotlike positive reaction in periodic acid-Schiff staining in a refractory anemia with excess of blasts in transformation. Courtesy of U. Woermann, MD, Division of Instructional Media, Institute for Medical Education, University of Bern, Switzerland.
Table 1. International Prognostic Scoring System Risk Groups and Prognosis[10]
Risk GroupTime to Development of AML (y)Median Survival (y)
Low risk9.45.7
Intermediate risk – 13.33.5
Intermediate risk – 21.11.2
High risk0.20.4
AML – Acute myelogenous leukemia
Table 2. IPSS Score for Staging MDS[12]
Prognostic Variable0 Points0.5 Points1 Point1.5 Points2 Points
Bone marrow blasts, %< 55-10–11-2021-30
Karyotype*GoodIntermediatePoor––
Cytopenias0/12/3–––
*Good is no abnormality (46,XX or 46,XY), -Y, del(5q), del(20q); intermediate is other abnormalities, such as trisomy 8 (+8); and poor is complex (33 abnormalities or chromosome 7 abnormality [ie, 7q- or -7]).
Table 3. Categories of FAB Classification Versus WHO Classification for Myelodysplastic Syndrome (MDS)
FAB



Classification



WHO-2004



Classification



WHO-2008



Classification



RARA RCMD 5q-RCUD RCMD 5q-
RARSRARS RCMD-RSRARS RCMD-RS RARS-T
RAEBRAEB-1 RAEB-2RAEB-1 RAEB-2
CMMLCMML-1 CMML-2CMML-1 CMML-2
RAEB-TAMLAML
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