Sudul Paulina, Piatkowska-Jakubas Beata, Pawlinski Lukasz, Galazka Krystyna, Sacha Tomasz, Kiec-Wilk Beata
University Hospital, 30-688 Krakow, Poland.
Unit of Rare Metabolic Diseases, Department of Metabolic Diseases, Jagiellonian University Medical College, 30-688 Krakow, Poland.
J Clin Med. 2023 Aug 25;12(17):5518. doi: 10.3390/jcm12175518.
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.
血液学异常是戈谢病（GD）最常见的早期症状，有报道称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）的关联机制仍不明确。酶替代疗法（ERT）已被证明可改善患者的血细胞减少，并且似乎有助于同时患有GD和MM的患者进行抗骨髓瘤治疗。尽管有必要证明酶活性缺乏以及使用基因检测来最终诊断GD，但由于血细胞计数图像的变化，骨髓活检仍是GD诊断程序中常见的一项。GD的诊断常常延迟，主要是由于骨髓活检组织病理学图像的异质性或重叠的血液学异常。未被识别和治疗的GD会使肿瘤疾病患者对靶向治疗的反应恶化。我们基于一名最初被诊断为MM，后来确诊合并1型戈谢病（GD1）的白种人患者的病例进行文献综述。我们想指出GD患者诊断不足和延误的问题。
