Gray J, Jaiyeola A, Whiting M, Modell M, Wierzbicki A S
Wandsworth Primary Care Research Group, Bolingbroke Hospital, London, UK.
Heart. 2008 Jun;94(6):754-8. doi: 10.1136/hrt.2006.107391. Epub 2007 Jun 17.
Familial hypercholesterolaemia (FH) is associated with highly raised low-density lipoprotein-cholesterol and causes early-onset cardiovascular disease. Its autosomal dominant inheritance allows family cascade screening to be performed once an index case has been identified. However, the vast majority of people with FH in the United Kingdom have not been identified, and there is no national screening programme.
To assess the utility of combined computer- and notes-based searches in identifying index cases of FH in primary care, and to uncover the degree of case overlap with secondary care.
Four computer searches were conducted in one South London practice with a registered population of 12,100 patients. Selected notes were reviewed by a general practitioner and consultant lipidologist to give a Dutch score for the probability of FH.
402/12,100 (3.3%) patients had a Dutch score high enough to require a notes review. Twelve cases of definite FH were found, of whom two were unknown to the practice. Eight probable cases were found, seven of whom were previously unknown. 2/12 (17%) definite cases and 4/8 (50%) probable cases were unknown to a secondary care lipid clinic. 216/402 (54%) patients scored as possible cases. After specialist review 47/216 (21.8%) patients would merit recalling for a detailed family history and xanthoma examination.
There are both diagnosed and undiagnosed cases of FH in primary care not known to secondary care. Significant potential exists to identify new cases of FH in primary care who could act as new index cases for a family screening programme.
家族性高胆固醇血症（FH）与低密度脂蛋白胆固醇显著升高相关，并导致早发性心血管疾病。其常染色体显性遗传使得一旦确定了索引病例，就可以进行家族级联筛查。然而，英国绝大多数FH患者尚未被识别，且没有全国性的筛查计划。
评估基于计算机和病历的联合搜索在基层医疗中识别FH索引病例的效用，并揭示与二级医疗中病例重叠的程度。
在伦敦南部一家拥有12100名注册患者的医疗机构进行了四项计算机搜索。选定的病历由一名全科医生和一名脂质病顾问进行审查，以给出FH可能性的荷兰评分。
402/12100（3.3%）名患者的荷兰评分高到足以需要审查病历。发现了12例确诊的FH病例，其中2例该医疗机构并不知晓。发现了8例可能病例，其中7例此前未知。二级医疗脂质诊所不了解2/12（17%）的确诊病例和4/8（50%）的可能病例。216/402（54%）名患者被评为可能病例。经过专家审查，47/216（21.8%）名患者值得召回进行详细的家族史和黄瘤检查。
在基层医疗中存在二级医疗未知的已诊断和未诊断的FH病例。在基层医疗中识别新的FH病例具有很大潜力，这些病例可作为家族筛查计划的新索引病例。
