Liu Yi, Zhong Ding-Rong, Zhou Pei-Ran, Lv Fang, Ma Dou-Dou, Xia Wei-Bo, Jiang Yan, Wang Ou, Xing Xiao-Ping, Li Mei
Department of Endocrinology, Key Laboratory of Endocrinology of Ministry of Health, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Science, Shuaifuyuan No.1, Dongcheng District, 100730, Beijing, China.
Department of Pathology, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Science, Shuaifuyuan No.1, Dongcheng District, 100730, Beijing, China.
Clin Rheumatol. 2016 Mar;35(3):813-23. doi: 10.1007/s10067-014-2780-2. Epub 2014 Sep 18.
Gorham-Stout disease (GSD) is an exceedingly rare disease characterized by progressive osteolysis and angiomatosis. We investigate the features of this disease and evaluate the effects of bisphosphonates (BPs) on it. The clinical, radiological, and pathological characteristics of 12 patients diagnosed with GSD were summarized. Immunohistochemical staining with specific lymphatic endothelial markers (D2-40), vascular markers (CD 31, CD 34), and vascular endothelial growth factor (VEGF) and vascular endothelial growth factor receptor 3 (VEGFR-3) was performed in specimens of bone biopsy. Patients were treated with either BPs or conjunction therapy of radiation and BPs. The effects of BPs were evaluated by the change of radiological progression, bone mineral density (BMD) and bone turnover biomarkers. To further evaluate the prognosis, a literature review was done. Idiopathic massive osteolysis was found in all patients, including 11 polyostotic and one mono-ostotic osteolysis. Soft tissue lymphangioma was presented in four patents. Four patients were complicated with chylothorax. Endothelial cells lining the proliferative vessels were positive for CD31 and CD34 and D2-40. Mild expression of VEGF and VEGFR-3 was also revealed. Stabilization in osteolysis and improvement in BMD were observed after single therapy with BPs or combined with radiotherapy. High mortality rate was found in patients with chylothorax. Spontaneous, progressive osteolysis is the most typical sign of GSD. BPs and radiotherapy can contribute to the clinical stabilization in bone lesion of GSD. The complicated chylothorax possibly indicates poor prognosis.
戈勒姆-斯托特病（GSD）是一种极为罕见的疾病，其特征为进行性骨质溶解和血管瘤病。我们研究了该疾病的特征，并评估了双膦酸盐（BPs）对其的影响。总结了12例诊断为GSD患者的临床、放射学和病理学特征。对骨活检标本进行了特异性淋巴管内皮标志物（D2-40）、血管标志物（CD 31、CD 34）、血管内皮生长因子（VEGF）和血管内皮生长因子受体3（VEGFR-3）的免疫组织化学染色。患者接受了BPs治疗或放疗与BPs的联合治疗。通过放射学进展、骨密度（BMD）和骨转换生物标志物的变化来评估BPs的效果。为进一步评估预后，进行了文献综述。所有患者均发现特发性大块骨质溶解，包括11例多骨型和1例单骨型骨质溶解。4例患者出现软组织淋巴管瘤。4例患者并发乳糜胸。增生血管内衬的内皮细胞CD31、CD34和D2-40呈阳性。还发现VEGF和VEGFR-3有轻度表达。单用BPs治疗或联合放疗后，观察到骨质溶解稳定，BMD改善。乳糜胸患者死亡率高。自发性进行性骨质溶解是GSD最典型的体征。BPs和放疗有助于GSD骨病变的临床稳定。并发乳糜胸可能提示预后不良。
