Mariani Sabrina, Palumbo Giovanna, Cardarelli Luisa, Santopietro Michelina, Foà Robin, Giona Fiorina
Acta Haematol. 2018;139(4):240-242. doi: 10.1159/000489251. Epub 2018 Jun 26.
Gaucher disease (GD) and primary myelofibrosis (PMF) share similar clinical and laboratory features, such as cytopenia, hepatosplenomegaly, and marrow fibrosis, often resulting in a misdiagnosis.
We report here the case of a young woman with hepatosplenomegaly, leukopenia, and thrombocytopenia. Based on bone marrow (BM) findings and on liver biopsy showing extramedullary hematopoiesis, an initial diagnosis of PMF was formulated. The patient refused stem cell transplantation from an HLA-identical sibling. Low-dose melphalan was given, without any improvement. Two years later, a BM evaluation showed Gaucher cells. Low glucocerebrosidase and high chitotriosidase levels were indicative for GD. Molecular analysis revealed N370S/complex I mutations. Enzyme replacement therapy with imiglucerase was commenced, resulting in clinical and hematological improvements. Due to an unexpected and persistent organomegaly, PMF combined with GD were suspected. JAK2V617F, JAK2 exon 12, MPL, calreticulin, and exon 9 mutations were negative, and BM examination showed no marrow fibrosis. PMF was excluded. Twenty years after starting treatment, the peripheral cell count and liver size were normal, whereas splenomegaly persisted.
In order to avoid a misdiagnosis, a diagnostic algorithm for patients with hepatosplenomegaly combined with cytopenia is suggested.
戈谢病（GD）和原发性骨髓纤维化（PMF）具有相似的临床和实验室特征，如血细胞减少、肝脾肿大和骨髓纤维化，常导致误诊。
我们在此报告一名年轻女性，她有肝脾肿大、白细胞减少和血小板减少。根据骨髓（BM）检查结果以及肝脏活检显示髓外造血，初步诊断为PMF。患者拒绝接受来自 HLA 相同同胞的干细胞移植。给予低剂量美法仑治疗，但无任何改善。两年后，BM评估显示有戈谢细胞。低葡萄糖脑苷脂酶和高壳三糖苷酶水平提示为GD。分子分析显示存在N₃₇₀S/复合I突变。开始用伊米苷酶进行酶替代治疗，临床和血液学状况得到改善。由于意外且持续存在的器官肿大，怀疑为PMF合并GD。JAK2V617F、JAK2外显子¹²、MPL、钙网蛋白和外显子⁹突变均为阴性，BM检查未显示骨髓纤维化。排除了PMF。开始治疗20年后，外周血细胞计数和肝脏大小正常，但脾肿大持续存在。
为避免误诊，建议为肝脾肿大合并血细胞减少的患者制定诊断算法。
