PHYSICAL: SIGNS, SYMPTOMS, AND EXAM
Although the myelodysplastic syndromes (MDS) have occasionally been described in children and adolescents, they are primarily encountered in adults in their sixth decade or older.12 In most reports, the median age is over 65 and there appears to be a male predominance.23 The clinical and laboratory presentation, although nonspecific in most patients, is dominated by and often reflects the fact that MDS derives from a defect involving a multipotent hematopoietic stem cell affecting one or more cell lineages.
Symptoms relate primarily to the peripheral blood cytopenias, with those attributable to anemia being most common. These may produce signs and symptoms on their own, or exacerbate those attributable to other preexisting comorbid conditions. Most patients present for medical evaluation because of complaints relating to these symptoms. These include weakness, fatigue, dyspnea, poor exercise tolerance, angina pectoris, pallor, and signs of cardiac failure relating to the degree of anemia. Signs and symptoms in association with neutropenia and thrombocytopenia are encountered less frequently. These include bacterial infections involving the lungs, kidneys, bladder, and skin; easy bruising, ecchymosis, petechiae, epistaxis, gingival bleeding, and hematuria. Patients with severe thrombocytopenia (i.e., platelets <20 X 109/L) may manifest life threatening gastrointestinal, pulmonary, gynecologic, or neurologic hemorrhage.
Physical findings are also nonspecific. The exam will often reveal signs relating to the underlying cytopenias. Hepatic and/or splenic enlargement are reported in 10-40% of patients and are most commonly found in chronic myelomonocytic leukemia (CMML). Lymphadenopathy and skin infiltration are uncommon,4-9 although the appearance of leukemia cutis in patients with MDS may herald the transformation to acute leukemia by weeks or months. Identification of leukemia cutis may also signal the development of a more aggressive clinical course, and in one study appeared to be associated with a poor prognosis.10 Similar to patients with AML, patients with MDS develop Sweet's syndrome (neutrophilic dermatosis).1112 Other skin findings include vasculitis and pyoderma gangrenosum.1213
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