目的:研究遗传性结缔组织病(HCTD)患者的骨脆性,包括Ehlers-Danlos综合征(EDS),马凡氏综合征(MFS)和Loeys-Dietz综合征(LDS)。
方法:从开始到2022年6月,使用搜索策略在Medline和EMBASE数据库中确定了可能符合条件的研究,其中包括“HCTD”的术语,“骨折”和“骨质疏松”。符合条件的研究必须由一组HCTD患者组成,并报告其参与者的骨折/骨质疏松症患病率/发生率。有或没有与健康个体比较。从每个研究中获得具有标准误差的点估计,并使用通用逆方差方法进行组合。
结果:在确定的4,206篇文章中,包括19项研究。EDS中骨折的合并患病率,MFS和LDS为44%(95CI,25-65%,I288%),17%(95CI,11-26%,I268%),69%(95CI,47-85%,I283%),分别。EDS中骨质疏松症的合并患病率为17%(95CI,8-34%,I296%)。EDS与骨折相关[合并比值比4.90(95CI,1.49-16.08,I286%)],但不是骨质疏松症[合并比值比1.34(95CI,0.28-6.36,I287%)。一项研究报告说,MFS中骨质疏松症的患病率为5%(95CI,3-8%),与骨折[发生率比1.35(95CI,1.18-1.55)]和骨质疏松[亚风险比3.97(95CI,2.53-6.25)]相关。
结论:EDS与骨折有关,这可能与骨质疏松症状况无关。MFS具有较温和程度的骨折和骨质疏松风险增加。尽管没有来自队列研究的数据,LDS的骨折率明显较高。
OBJECTIVE: 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).
METHODS: 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.
RESULTS: 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%, I2 88%), 17% (95% CI, 11% to 26%, I2 68%), 69% (95% CI, 47% to 85%, I2 83%), respectively. The pooled prevalence of osteoporosis in EDS was 17% (95% CI, 8% to 34%, I2 96%). EDS was associated with fracture [pooled odds ratio {OR} 4.90 (95% CI, 1.49 - 16.08, I2 86%)], but not osteoporosis [pooled OR 1.34 (95% CI, 0.28 - 6.36, I2 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)].
CONCLUSIONS: 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.