服务评估：护士主导的区域性家族性高胆固醇血症服务对医院成人脂质诊所的影响。
A service evaluation: impact of nurse-led regional familial hypercholesterolaemia service on a hospital adult lipid clinic.
机构信息
Foundation doctor, Blood Sciences, Black Country Pathology Services, The Royal Wolverhampton NHS Trust.
Clinical Programme Manager, West Midlands Familial Hypercholesterolaemic Service, University Hospitals Birmingham NHS Foundation Trust.
出版信息
Br J Nurs. 2020 Nov 12;29(20):1206-1208. doi: 10.12968/bjon.2020.29.20.1206.
UNLABELLED
The authors evaluated the impact of genetic screening for familial hypercholesterolaemia (FH) in a lipid clinic cohort of patients with definite and possible FH as defined by the Simon Broome Register (SBR) criteria.
METHODS
Patients with a lipid clinic diagnosis of definite and possible FH based on the SBR criteria were referred to a nurse-led regional service for FH genetic testing.
FINDINGS
140 patients were referred for genetic testing. Six had SBR-definite FH due to the presence of tendon xanthomata and 134 had SBR-possible FH. A monogenic FH mutation was detected in all six patients (100%) with SBR-definite FH and in 34 (25%) of patients with possible FH.
CONCLUSION
The appropriate use of molecular genetics in a lipid clinic will greatly facilitate the management of hyperlipidaemia and cardiovascular risk since the management of FH patients (National Institute for Health and Care Excellence (NICE) Clinical Guideline 71) is different from non-FH patients (NICE Clinical Guideline 181).
目的
作者评估了在脂质临床患者队列中进行家族性高胆固醇血症（FH）遗传筛查的影响，这些患者是根据西蒙布鲁姆登记处（SBR）标准定义的明确和可能的 FH。
方法
根据 SBR 标准在脂质临床诊断为明确和可能的 FH 的患者被转介到 FH 遗传检测的护士主导的区域服务。
结果
有 140 名患者被转介进行基因检测。由于存在肌腱黄瘤，6 名患者被诊断为 SBR 明确 FH，134 名患者为 SBR 可能 FH。在所有 6 名 SBR 明确 FH 患者（100%）和 34 名可能 FH 患者（25%）中均检测到单基因 FH 突变。
结论
在脂质临床中合理应用分子遗传学将极大地促进高脂血症和心血管风险的管理，因为 FH 患者的管理（国家卫生与保健卓越研究所（NICE）临床指南 71）与非 FH 患者不同（NICE 临床指南 181）。
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