Mayo Clinic, Jacksonville, Florida 32224, USA.
Am J Med. 2012 Jul;125(7 Suppl):S6-13. doi: 10.1016/j.amjmed.2012.04.015.
Myelodysplastic syndromes (MDS) comprise a group of underrecognized hematologic clonal malignancies with variable propensity for leukemic transformation that can present a diagnostic challenge because they lack hallmark symptoms. MDS can present with varying degrees of anemia, neutropenia, and thrombocytopenia, and at presentation can range from indolent to life threatening. The clinician should have a heightened level of suspicion when treating elderly patients and those with prior exposure to chemotherapy, radiation, and environmental toxins in the presence of unexplained cytopenias. Chronic anemia should not be considered a natural consequence of aging. Approximately 1 in 6 patients with unexplained anemia may have findings compatible with MDS, suggesting that MDS should be considered higher in the differential diagnosis. Primary care physicians are encouraged to conduct comprehensive evaluations to exclude non-MDS-related causes for persistent cytopenias. Patients with pancytopenia, bicytopenia, or any persistent and unexplained isolated cytopenia (and particularly unexplained macrocytic anemia) should be referred to a specialist to establish a diagnosis.
骨髓增生异常综合征（MDS）是一组未被充分认识的血液学克隆恶性肿瘤，具有不同的白血病转化倾向，由于缺乏标志性症状，可能会带来诊断挑战。MDS 可表现为不同程度的贫血、中性粒细胞减少和血小板减少，在发病时从惰性到危及生命不等。当治疗老年患者和那些有既往暴露于化疗、放疗和环境毒素的患者时，如果存在不明原因的血细胞减少，临床医生应保持高度怀疑。慢性贫血不应被认为是衰老的自然结果。大约每 6 名不明原因贫血的患者中就有 1 名可能存在与 MDS 相符的发现，这表明 MDS 在鉴别诊断中应被更优先考虑。鼓励初级保健医生进行全面评估，以排除持续性血细胞减少的非 MDS 相关原因。对于全血细胞减少、双系血细胞减少或任何持续性和不明原因的孤立性血细胞减少（特别是不明原因的巨细胞性贫血）的患者，应转介给专家以确立诊断。
