Background: Gaucher disease (GD) is a rare lysosomal storage disorder classically subdivided into type 1 (non-neuronopathic) GD, and types 2 and 3 (neuronopathic) GD. It is typically characterized by clinical manifestations including anemia, thrombocytopenia, hepatosplenomegaly, bone lesions, and (in more severe forms) neurological impairment. However, less-commonly reported and often under-recognized manifestations exist, which potentially have a significant impact on patient outcomes. Greater efforts are needed to understand, recognize, and manage these manifestations.

Objectives: This review provides a synthesis of published information about three under-recognized GD manifestations (pulmonary involvement, lymphadenopathy, and Gaucheroma) and recommends diagnostic, management, and treatment strategies based on the available literature and author experience. The authors aim to raise awareness about these serious, progressive, and sometimes life-threatening conditions, which are often diagnosed late in life.

Conclusions: Little is known about the incidence, pathophysiology, prognostic factors, and optimal management of pulmonary involvement, lymphadenopathy, and Gaucheroma in patients with GD. Enzyme replacement therapy (ERT) has shown limited efficacy for the prevention and treatment of these manifestations. More research is needed to evaluate the potential effect of substrate reduction therapy (SRT) with glucosylceramide synthase (GCS) inhibitors, and to develop additional approaches to treat these GD manifestations. Improvements in data collection registries and international data-sharing are required to better understand the impact of these manifestations on GD patients, help develop effective management strategies, and, ultimately, improve patient outcomes.

背景：戈谢病 (GD) 是一种罕见的溶酶体贮积症，经典地分为 1 型（非神经病性）GD 和 2 型和 3 型（神经病性）GD。它通常以临床表现为特征，包括贫血、血小板减少、肝脾肿大、骨损伤和（更严重的形式）神经功能障碍。然而，存在不太常见且经常被低估的表现，这可能对患者的预后产生重大影响。需要付出更大的努力来理解、识别和管理这些表现。

目的：本综述综合了已发表的关于三种未被充分认识的 GD 表现（肺受累、淋巴结病和 Gaucheroma）的信息，并根据现有文献和作者经验推荐了诊断、管理和治疗策略。作者旨在提高人们对这些严重、渐进、有时甚至危及生命的疾病的认识，这些疾病通常在晚年被诊断出来。

结论：关于 GD 患者肺部受累、淋巴结病和戈切瘤的发病率、病理生理学、预后因素和最佳管理知之甚少。酶替代疗法 (ERT) 对这些表现的预防和治疗效果有限。需要更多的研究来评估葡萄糖神经酰胺合酶 (GCS) 抑制剂的底物减少疗法 (SRT) 的潜在效果，并开发其他方法来治疗这些 GD 表现。需要改进数据收集登记和国际数据共享，以更好地了解这些表现对 GD 患者的影响，帮助制定有效的管理策略，并最终改善患者的预后。