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Abstract：
Hematological abnormalities are the most common early symptoms of Gaucher disease (GD), with an increased risk of hematopoietic system malignancies reported in patients with GD. GD may be associated with monoclonal and polyclonal gammopathies; however, the mechanism of association of GD with multiple myeloma (MM) remains uncertain. Enzyme replacement therapy (ERT) has been shown to improve patients\' cytopenia and it seems to facilitate anti-myeloma therapy in patients with co-occurring GD and MM. Although it is necessary to demonstrate the deficiency of enzymatic activity, as well as using genetic tests to finally diagnose GD, due to changes in the blood count image, bone marrow biopsy is still a frequent element of the GD diagnosis procedure. The diagnosis of GD is often delayed, mainly due to the heterogeneity of the histopathological picture of bone marrow biopsy or overlapping hematological abnormalities. Unrecognized and untreated GD worsens the response of a patient with an oncological disease to targeted treatment. We present a literature review, inspired by the case of a Caucasian patient initially diagnosed with MM and later confirmed with comorbid GD type 1 (GD1). We would like to point out the problem of underdiagnosis and delay in patients with GD.
摘要：
血液学异常是戈谢病（GD）最常见的早期症状，GD患者发生造血系统恶性肿瘤的风险增加。GD可能与单克隆和多克隆丙种球蛋白病有关；然而，GD与多发性骨髓瘤（MM）的相关性机制尚不明确。酶替代疗法（ERT）已被证明可以改善患者的血细胞减少症，并且似乎可以促进合并GD和MM的患者的抗骨髓瘤治疗。尽管有必要证明酶活性的缺乏，以及使用基因测试来最终诊断GD，由于血细胞计数图像的变化，骨髓活检仍然是GD诊断程序的常见内容。GD的诊断经常延迟，主要是由于骨髓活检的组织病理学图像的异质性或重叠的血液学异常。未识别和未治疗的GD使患有肿瘤疾病的患者对靶向治疗的反应恶化。我们进行了文献综述，受一名白人患者最初诊断为MM，后来证实为GD1型（GD1）合并症的启发。我们想指出GD患者诊断不足和延误的问题。
