Loeys-Dietz综合征(LDS)是一种结缔组织疾病,由改变转化生长因子β信号通路的突变引起。由于最近发现导致LDS的潜在基因突变,特征和并发症的范围尚未完全了解。
我们的搜索包括五个数据库(Pubmed,Scopus,WebofScience,EMBASE和谷歌学者),并包括“Loeys-Dietz综合征”的变体作为搜索词,使用所有可用数据,直到2021年2月。包括所有研究类型。三位审稿人筛选了1394份摘要,其中418项进行了全文审查,392项纳入了最终分析。
我们确定了3896例LDS报告病例,其中最常见的报告特征和并发症是:主动脉瘤和夹层,动脉弯曲,高拱形腭,异常的悬垂和过度的。LDS类型1和2共有许多临床特征,LDS2型似乎具有更具侵袭性的主动脉疾病。LDS类型3显示二尖瓣脱垂和关节炎的患病率增加。LDS类型4和5显示肌肉骨骼和心血管受累的患病率较低。在222名妇女中,有522次怀孕,4%发生主动脉夹层,围产期死亡率为1%。
我们观察到LDS是一种多系统结缔组织疾病,与高负担的并发症有关。需要多学科的方法。不断尝试更好地表征这些特征将允许临床医生适当地筛查和管理这些并发症。
Loeys-Dietz syndrome (LDS) is a connective tissue disorder that arises from mutations altering the transforming growth factor β signalling pathway. Due to the recent discovery of the underlying genetic mutations leading to LDS, the spectrum of characteristics and complications is not fully understood.
Our search included five databases (Pubmed, SCOPUS, Web of Science, EMBASE and google scholar) and included variations of \"Loeys-Dietz Syndrome\" as search terms, using all available data until February 2021. All study types were included. Three reviewers screened 1394 abstracts, of which 418 underwent full-text
review and 392 were included in the final analysis.
We identified 3896 reported cases of LDS with the most commonly reported features and complications being: aortic aneurysms and dissections, arterial tortuosity, high arched palate, abnormal uvula and hypertelorism. LDS Types 1 and 2 share many clinical features, LDS Type 2 appears to have a more aggressive aortic disease. LDS Type 3 demonstrated an increased prevalence of mitral valve prolapse and arthritis. LDS Type 4 and 5 demonstrated a lower prevalence of musculoskeletal and cardiovascular involvement. Amongst 222 women who underwent 522 pregnancies, 4% experienced an aortic dissection and the peripartum mortality rate was 1%.
We observed that LDS is a multisystem connective tissue disorder that is associated with a high burden of complications, requiring a multidisciplinary approach. Ongoing attempts to better characterise these features will allow clinicians to appropriately screen and manage these complications.