Marcucci Gemma, Brandi Maria Luisa
Department of Biomedical, Experimental and Clinical Sciences, University of Florence, Bone Metabolic Diseases Unit, University Hospital of Florence, Florence, Italy.
Fondazione FIRMO Onlus, Italian Foundation for the Research On Bone Diseases, Florence, Italy.
Calcif Tissue Int. 2025 Jan 22;116(1):31. doi: 10.1007/s00223-024-01340-y.
Gaucher disease is a rare lysosomal storage disorder characterized by the accumulation of glucocerebroside lipids within multiple organs due to a deficiency of the lysosomal enzyme (acid β-glucosidase). It is an inherited autosomal recessive disease. The onset of symptoms can vary depending on disease type and severity, with milder forms presenting in adulthood. The main clinical manifestations include cytopenia, splenomegaly, hepatomegaly, and bone lesions. GD is characterized by several bone manifestations, such as osteopenia/osteoporosis, focal lytic or sclerotic lesions, osteonecrosis acute or chronic bone pain, Erlenmeyer flask deformity, and subchondral joint collapse with secondary degenerative arthritis. In 70-100% of patients affected by Gaucher disease type 1, clinical or radiographic evidence of bone disease occurs. Among bone complications, osteoporosis is very common, but its etiopathogenesis in GD is not completely clear. Results deriving from experimental studies support the hypothesis that there is an aberrant activity of both osteoclasts and osteoblasts due to several factors, resulting in impaired bone turnover. Bone complications represent the main cause of pain, disability, and reduced quality of life in these patients. Therefore, there is a need to enhance awareness among physicians on the skeletal manifestations throughout life of GD patients, in order to improve diagnosis and management of bone complications. In particular, this narrative review focuses on risk of bone fragility in GD, etiopathogenetic hypotheses, epidemiological data, diagnosis, monitoring, and treatment of osteoporosis in patients suffering from Gaucher disease, specifying the challenges not yet addressed.
戈谢病是一种罕见的溶酶体贮积症，其特征是由于溶酶体酶（酸性β-葡萄糖苷酶）缺乏，导致多个器官内葡糖脑苷脂脂质蓄积。它是一种常染色体隐性遗传病。症状的发作因疾病类型和严重程度而异，较轻的形式在成年期出现。主要临床表现包括血细胞减少、脾肿大、肝肿大和骨病变。戈谢病的特征是有几种骨骼表现，如骨质减少/骨质疏松、局灶性溶骨性或硬化性病变、骨坏死、急性或慢性骨痛、烧瓶样畸形以及继发退行性关节炎的软骨下关节塌陷。在70%-100%的1型戈谢病患者中，会出现骨骼疾病的临床或影像学证据。在骨骼并发症中，骨质疏松非常常见，但其在戈谢病中的发病机制尚不完全清楚。实验研究结果支持这样的假设，即由于多种因素，破骨细胞和成骨细胞均存在异常活动，导致骨转换受损。骨骼并发症是这些患者疼痛、残疾和生活质量下降的主要原因。因此，有必要提高医生对戈谢病患者一生中骨骼表现的认识，以改善骨骼并发症的诊断和管理。特别是，这篇叙述性综述重点关注戈谢病患者的骨脆性风险、发病机制假说、流行病学数据、骨质疏松的诊断、监测和治疗，明确尚未解决的挑战。
