遗传性出血性毛细血管扩张症(HHT)是一种常染色体显性疾病,估计患病率为5000分之一,其特征是存在血管畸形(VM)。这些会导致慢性出血,急性出血,第二个国际HHT指南流程的目标是为HHT相关症状和并发症的管理和预防制定基于证据的共识指南。
这些指南是使用AGREEII(评估研究和评估指南II)框架和等级(评估建议的等级,开发和评估)方法。指南专家小组包括来自15个国家的HHT专家医师(临床和遗传),指导方法学家,医护人员,卫生保健管理员,患者倡导代表,和HHT的人。在会前过程中,专家小组在6个优先主题领域产生了临床相关问题.2019年6月进行了系统的文献检索,纳入符合先验标准的文章生成证据表,它们被用作推荐开发的基础。专家小组随后在一次准则会议上召集,以进行结构化的共识过程,在此期间,达成至少80%共识的建议得到了讨论和批准。
专家小组为以下6个优先主题领域中的每个领域生成并批准了6个新建议:鼻出血,消化道出血,贫血和缺铁,肝脏VM,儿科护理,和怀孕和分娩(共36)。这些建议强调了第一个国际HHT指南中现有主题的新证据,并在三个新领域提供了指导:贫血,儿科,怀孕和分娩。这些建议应有助于将HHT护理的关键组成部分实施到临床实践中。
Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant disease with an estimated prevalence of 1 in 5000 that is characterized by the presence of vascular malformations (VMs). These result in chronic bleeding, acute hemorrhage, and complications from shunting through VMs. The goal of the Second International HHT
Guidelines process was to develop evidence-based
consensus guidelines for the management and prevention of HHT-related symptoms and complications.
The
guidelines were developed using the AGREE II (Appraisal of
Guidelines for Research and Evaluation II) framework and GRADE (Grading of Recommendations Assessment, Development and Evaluation) methodology. The
guidelines expert panel included expert physicians (clinical and genetic) in HHT from 15 countries, guidelines methodologists, health care workers, health care administrators, patient advocacy representatives, and persons with HHT. During the preconference process, the expert panel generated clinically relevant questions in 6 priority topic areas. A systematic literature search was done in June 2019, and articles meeting a priori criteria were included to generate evidence tables, which were used as the basis for recommendation development. The expert panel subsequently convened during a
guidelines conference to conduct a structured
consensus process, during which recommendations reaching at least 80%
consensus were discussed and approved.
The expert panel generated and approved 6 new recommendations for each of the following 6 priority topic areas: epistaxis, gastrointestinal bleeding, anemia and iron deficiency, liver VMs, pediatric care, and pregnancy and delivery (36 total). The recommendations highlight new evidence in existing topics from the first International HHT Guidelines and provide guidance in 3 new areas: anemia, pediatrics, and pregnancy and delivery. These recommendations should facilitate implementation of key components of HHT care into clinical practice.