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Bone Abstracts (2016) 5 P457 | DOI: 10.1530/boneabs.5.P457

Other diseases of bone and mineral metabolism

Mutant TGFβ1 in Camurati-Engelamann disease causes systemic manifestations and reproductive disorders more often than previously thought: report of eight Chinese families

Ruizhi Jiajue, Zhen Zhao, Bo Wu, Yan Jiang, Ou Wang, Mei Li, Xiaoping Xing & Weibo Xia

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Peking Union Medical College Hospital, Beijing, China.


Camurati-Engelmann disease (CED) is a rare autosomal dominant bone disease with transforming growth factor-β1 (TGFβ1) gene mutation. In order to expand our limited knowledge of Chinese CED patients, we reported eight Chinese families (11 patients) diagnosed with CED. The study was approved the Department of Scientific Research of Peking Union Medical College Hospital. All the patients were evaluated genetically, clinically, biochemically and radiographically. Changes of clinical and biochemical abnormalities were observed after treatment by prednisone or bisphosphates. Correlations between bone turnover markers and other biochemical parameters were analyzed. Three different heterozygous mutations, R218H, C225R and R218C, were detected in 1 (12.5%), 1 (12.5%) and 6 (75%) families, respectively. Except for some reported common features, such as limb pain and waddling gait, we additionally found that some previously considered uncommon features, especially systemic manifestations, delayed puberty and hypogonadism, had high incidence of 40%–60%, 75% and 62.5%, respectively. Bone turnover marker ALP was significantly and positively associated with inflammatory markers (ESR, r=0.945, P=0.001; hsCRP, r=0.867, P=0.012), while significantly and negatively associated with HGB (r=−0.692, P=0.027), which were part of systemic manifestations. Bone pain and all the biochemical abnormalities were relieved dramatically after short-term prednisone treatment, Value of WBC significantly increased after 1-month treatment, meanwhile, values of HGB, PLT, ESR and hsCRP back to normal after 3-month treatment. Our study suggested that CED might be a systemic disorder rather than a purely metabolic bone disease and activated inflammatory responses caused by enhanced TGFβ1 activity might play a crucial role in the pathogenesis of CED. Reproductive disorders were common in CED and might be due to the potential inhibitory role of TGFβ1 in gonad and secondary sex organ development. We recommended short-term corticosteroid as the appropriate therapeutic strategy in CED.

Volume 5

43rd Annual European Calcified Tissue Society Congress

Rome, Italy
14 May 2016 - 17 May 2016

European Calcified Tissue Society 

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