Hughes Derralynn, Cappellini Maria Domenica, Berger Marc, Van Droogenbroeck Jan, de Fost Maaike, Janic Dragana, Marinakis Theodore, Rosenbaum Hanna, Villarubia Jesús, Zhukovskaya Elena, Hollak Carla
Department of Academic Haematology, Royal Free Hospital and University College Medical School, London, UK.
Br J Haematol. 2007 Sep;138(6):676-86. doi: 10.1111/j.1365-2141.2007.06701.x. Epub 2007 Jul 26.
Current knowledge of the haematological and onco-haematological complications of type 1 Gaucher disease has been reviewed with the aim of identifying best clinical practice for treatment and disease management. It was concluded that: (i) Awareness of typical patterns of cytopenia can help clinicians distinguish haematological co-morbidities. (ii) Red blood cell studies and complete iron metabolism evaluation at baseline are recommended. (iii) Haemoglobin levels defining anaemia should be raised and used in Gaucher disease treatment and monitoring. (iv) Surgeons should be aware of potential bleeding complications during surgery in Gaucher patients. The higher incidence of multiple myeloma in Gaucher disease suggests that Gaucher patients should have their immunoglobulin profile determined at diagnosis and monitored every 2 years (patients <50 years) or every year (patients >50 years). If monoclonal gammopathy of undetermined significance (MGUS) is found, general MGUS guidelines should be followed. Future studies should focus on the utility of early treatment to prevent immunoglobulin abnormalities and multiple myeloma.
对1型戈谢病血液学和肿瘤血液学并发症的现有知识进行了综述,目的是确定治疗和疾病管理的最佳临床实践。得出以下结论:(i)认识血细胞减少的典型模式有助于临床医生区分血液学合并症。(ii)建议在基线时进行红细胞研究和完整的铁代谢评估。(iii)在戈谢病治疗和监测中,应提高用于定义贫血的血红蛋白水平并加以应用。(iv)外科医生应意识到戈谢病患者手术期间潜在的出血并发症。戈谢病中多发性骨髓瘤的发病率较高,这表明戈谢病患者应在诊断时测定免疫球蛋白谱,并每2年(年龄<50岁的患者)或每年(年龄>50岁的患者)进行监测。如果发现意义未明的单克隆丙种球蛋白病(MGUS),应遵循一般MGUS指南。未来的研究应侧重于早期治疗预防免疫球蛋白异常和多发性骨髓瘤的效用。