Charoenngam Nipith, Rittiphairoj Thanitsara, Ponvilawan Ben, Jaroenlapnopparat Aunchalee, Waitayangkoon Palapun, Suppakitjanusant Pichatorn, Prasitsumrit Vitchapong, Pongchaiyakul Chatlert, Holick Michael F
Department of Medicine, Mount Auburn Hospital, Harvard Medical School, Cambridge, Massachusetts; Section Endocrinology, Diabetes, Nutrition and Weight Management, Department of Medicine, Boston University School of Medicine, Boston, Massachusetts; Department of Medicine, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand.
Harvard T.H. Chan School of Public Health, Boston, Massachusetts.
Endocr Pract. 2023 Jul;29(7):589-600. doi: 10.1016/j.eprac.2023.02.003. Epub 2023 Feb 17.
To investigate bone fragility in patients with hereditary connective tissue disorders (HCTD), including Ehlers-Danlos syndrome (EDS), Marfan's syndrome (MFS) and Loeys-Dietz syndrome (LDS).
From inception to June 2022, potentially eligible studies were identified in the Medline and EMBASE databases using search strategy that included terms for "HCTD", "Fracture" and "Osteoporosis". Eligible studies must consist of a group of patients with HCTD and report prevalence/incidence of fracture/osteoporosis in their participants, with or without comparison with healthy individuals. Point estimates with standard errors were obtained from each study and combined using the generic inverse variance method.
Among the 4206 articles identified, 19 studies were included. The pooled prevalence of fracture in EDS, MFS, and LDS were 44% (95% confidence interval [CI], 25% to 65%, I 88%), 17% (95% CI, 11% to 26%, I 68%), 69% (95% CI, 47% to 85%, I 83%), respectively. The pooled prevalence of osteoporosis in EDS was 17% (95% CI, 8% to 34%, I 96%). EDS was associated with fracture [pooled odds ratio {OR} 4.90 (95% CI, 1.49 - 16.08, I 86%)], but not osteoporosis [pooled OR 1.34 (95% CI, 0.28 - 6.36, I 87%). One study reported a 5% (95% CI, 3% to 8%) prevalence of osteoporosis in MFS, which was associated with fracture [incidence rate ratio 1.35 (95% CI, 1.18 - 1.55)] and osteoporosis [subhazard ratio 3.97 (95% CI, 2.53 - 6.25)].
EDS was associated with fracture, which could be independent of osteoporosis status. MFS had a milder degree of increased risk of fracture and osteoporosis. Despite no data from cohort studies, there was a significantly higher rate of fracture in LDS.
研究遗传性结缔组织疾病（HCTD）患者的骨脆性，包括埃勒斯-当洛综合征（EDS）、马凡综合征（MFS）和洛伊迪茨综合征（LDS）。
从开始到2022年6月，在Medline和EMBASE数据库中使用包括“HCTD”、“骨折”和“骨质疏松症”等术语的检索策略识别潜在符合条件的研究。符合条件的研究必须包括一组HCTD患者，并报告其参与者骨折/骨质疏松症的患病率/发病率，无论是否与健康个体进行比较。从每项研究中获得点估计值和标准误差，并使用通用逆方差法进行合并。
在识别出的4206篇文章中，纳入了19项研究。EDS、MFS和LDS骨折的合并患病率分别为44%（95%置信区间[CI]，25%至65%，I²=88%）、17%（95%CI，11%至26%，I²=68%）、69%（95%CI，47%至85%，I²=83%）。EDS中骨质疏松症的合并患病率为17%（95%CI，8%至34%，I²=96%）。EDS与骨折相关[合并比值比（OR）4.90（95%CI，1.49 - 16.08，I²=86%）]，但与骨质疏松症无关[合并OR 1.34（95%CI，0.28 - 6.36，I²=87%）]。一项研究报告MFS中骨质疏松症的患病率为5%（95%CI，3%至8%），这与骨折[发病率比1.35（95%CI，1.18 - 1.55）]和骨质疏松症[亚风险比3.97（95%CI，2.53 - 6.25）]相关。
EDS与骨折相关，这可能与骨质疏松症状态无关。MFS骨折和骨质疏松症的风险增加程度较轻。尽管没有队列研究数据，但LDS的骨折发生率明显更高。
