The revised Ghent nosology for the Marfan syndrome
The revised Ghent nosology for the Marfan syndrome
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DOI：
10.1136/jmg.2009.072785
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发表时间：
2010-07-01
影响因子：
4
通讯作者：
De Paepe, Anne M.
中科院分区：
文献类型：
--
作者：
Loeys, Bart L.;Dietz, Harry C.;De Paepe, Anne M.
马凡综合征(MFS)的诊断依赖于国际专家意见概述的明确的临床标准(Ghent Nosology)，以促进对这种遗传性动脉瘤综合征的准确认识，并改善患者管理和咨询。这些根特标准包括不同身体系统的一系列主要和次要表现，已被证明效果良好，因为随着分子技术的改进，95%以上的患者可能确认诊断。然而，对目前的病因学的担忧是，一些诊断标准没有得到充分的验证，不适用于儿童，或者需要昂贵的专门检查。对不同临床表现的认识和最近扩展的鉴别诊断进一步混淆了准确的诊断决策。此外，MFS的诊断--无论是否正确建立--可能会使人蒙羞，阻碍职业抱负，限制人寿保险机会，并造成心理社会负担。一个国际专家小组已经建立了修订的Ghent病因学，更加重视心血管表现，其中主动脉根部动脉瘤和异位晶状体是主要的临床特征。在没有任何家族史的情况下，这两种表现的存在足以明确诊断MFS。如果没有这两者中的任何一个，则需要存在真正的FBN1突变或全身表现的组合。对于后者，已经设计了一个新的评分系统。在修订的病因学中，FBN1检测虽然不是强制性的，但在诊断评估中具有更大的权重。对儿童MFS的诊断和成人的替代诊断给予了特别的考虑。我们预计，这些新的指南可能会推迟对MFS的明确诊断，但将降低过早或误诊的风险，并促进全球对风险和后续/管理指南的讨论。
The diagnosis of Marfan syndrome (MFS) relies on defined clinical criteria (Ghent nosology), outlined by international expert opinion to facilitate accurate recognition of this genetic aneurysm syndrome and to improve patient management and counselling. These Ghent criteria, comprising a set of major and minor manifestations in different body systems, have proven to work well since with improving molecular techniques, confirmation of the diagnosis is possible in over 95% of patients. However, concerns with the current nosology are that some of the diagnostic criteria have not been sufficiently validated, are not applicable in children or necessitate expensive and specialised investigations. The recognition of variable clinical expression and the recently extended differential diagnosis further confound accurate diagnostic decision making. Moreover, the diagnosis of MFS-whether or not established correctly-can be stigmatising, hamper career aspirations, restrict life insurance opportunities, and cause psychosocial burden. An international expert panel has established a revised Ghent nosology, which puts more weight on the cardiovascular manifestations and in which aortic root aneurysm and ectopia lentis are the cardinal clinical features. In the absence of any family history, the presence of these two manifestations is sufficient for the unequivocal diagnosis of MFS. In absence of either of these two, the presence of a bonafide FBN1 mutation or a combination of systemic manifestations is required. For the latter a new scoring system has been designed. In this revised nosology, FBN1 testing, although not mandatory, has greater weight in the diagnostic assessment. Special considerations are given to the diagnosis of MFS in children and alternative diagnoses in adults. We anticipate that these new guidelines may delay a definitive diagnosis of MFS but will decrease the risk of premature or misdiagnosis and facilitate worldwide discussion of risk and follow-up/management guidelines.