Myelodysplastic Syndrome (MDS) Clinical Presentation

Updated: Aug 31, 2023
  • Author: Emmanuel C Besa, MD; Chief Editor: Sara J Grethlein, MD, MBA, FACP  more...
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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 but also from the 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 in patients with neutropenia.


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.