Multiple myeloma is the most common hematological malignancy in Gaucher disease type 1 (GD1). There is a lack of outcome data and consensus regarding screening of gammopathies. This study explores utility of screening in Porto Alegre, Brazil, and Cincinnati, Ohio. A retrospective analysis of clinical information and laboratory data from GD1 patients was performed. Over 19 years, 68 individuals with GD1 (31 males, 37 females) underwent screening, and 20 (29.4%) had abnormalities. Twelve (17.6%) had polyclonal gammopathy (mean age 24.2 years, p = .02), seven (10%) had monoclonal gammopathy of uncertain significance (MGUS; mean age 52.7 years, p = .009). One had multiple myeloma (age 61 years). Risk factors for MGUS included male gender (p = .05), p.N409S allele (p = .032). MGUS developed in six of 62 treated and two of four untreated individuals. Of those with MGUS receiving treatment, four were on enzyme replacement therapy (ERT) and one on substrate reduction therapy (SRT). Gammopathy normalized in 13 treated individuals (10 polyclonal, three MGUS) and remained abnormal in two treated individuals (two polyclonal, two MGUS). Gammopathy relapse was seen in one individual with MGUS and three with polyclonal gammopathy. This study describes screening for gammopathies and identifies risk factors in individuals with GD1.

中文翻译：

---

在来自巴西和美国的队列中对患有 1 型戈谢病的儿童和成人进行丙种球蛋白病筛查的结果

多发性骨髓瘤是戈谢病 1 型 (GD1) 中最常见的血液系统恶性肿瘤。缺乏关于丙种球蛋白病筛查的结果数据和共识。本研究探讨了巴西阿雷格里港和俄亥俄州辛辛那提的筛查效用。对GD1患者的临床信息和实验室数据进行了回顾性分析。19 年来，68 名 GD1 患者（31 名男性，37 名女性）接受了筛查，其中 20 名（29.4%）有异常。12 名（17.6%）患有多克隆丙种球蛋白病（平均年龄 24.2 岁，p = .02），7 名（10%）患有不确定意义的单克隆丙种球蛋白病（MGUS；平均年龄 52.7 岁，p = .009）。一名患有多发性骨髓瘤（61 岁）。MGUS 的危险因素包括男性（p= .05)，p.N409S 等位基因 ( p = .032)。MGUS 在 62 名接受治疗的人中的 6 名和 4 名未接受治疗的人中的两名中出现。在接受治疗的 MGUS 患者中，4 人接受酶替代疗法 (ERT)，1 人接受底物减少疗法 (SRT)。13 名接受治疗的个体（10 名多克隆，3 名 MGUS）中的丙种球蛋白病正常化，并且在 2 名接受治疗的个体（2 名多克隆，2 名 MGUS）中仍然异常。一名患有 MGUS 的个体和三名患有多克隆丙种球蛋白病的个体出现了丙种球蛋白病复发。本研究描述了 Gammopathies 的筛查并确定了 GD1 个体的风险因素。