Comparing the performance of the novel FAMCAT algorithms and established case-finding criteria for familial hypercholesterolaemia in primary care.
Comparing the performance of the novel FAMCAT algorithms and established case-finding criteria for familial hypercholesterolaemia in primary care.
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DOI：
10.1136/openhrt-2021-001752
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发表时间：
2021-10
期刊：
影响因子：
2.7
通讯作者：
Kai J
中科院分区：
文献类型：
--
作者：
Qureshi N;Akyea RK;Dutton B;Leonardi-Bee J;Humphries SE;Weng S;Kai J
家族性高胆固醇血症（FH）是一种常见的遗传性疾病，可导致过早的冠心病（CHD）和死亡。我们开发了新的家族性高胆固醇血症病例确定工具（FAMCAT 1）病例查找算法，用于初级保健，以提高FH的检测。通过纳入个人早发冠心病病史（FAMCAT 2算法），进一步提高了算法的性能。本研究以95%的特异性评估了它们在普通人群中检测经遗传证实的FH的性能。我们还将这些算法与已建立的临床病例发现标准进行了比较。前瞻性验证研究，在14个全科实践中，从有胆固醇记录的普通成人人群中招募参与者。对于260名有健康记录的参与者，我们根据FAMCAT阈值、荷兰脂质临床网络（DLCN）评分、Simon-Broome标准和推荐的胆固醇阈值（≥30岁的总胆固醇>9.0 mmol/L, <30岁的>7.5 mmol/L）确定可能的FH病例，使用电子和手动提取的患者记录和家族史问卷的临床数据。参照标准为基因检测。我们检查了每个病例发现标准的检出率（DR）、敏感性和特异性。在95%的特异性下，FAMCAT 1的DR为27.8% (95% CI 12.5%至50.9%)，敏感性为31.2% (95% CI 11.0%至58.7%)；FAMCAT 2的DR为45.8% (95% CI 27.9% ~ 64.9%)，敏感性为68.8% （95% CI 41.3% ~ 89.0%）。DLCN评分≥6分，DR为35.3% (95% CI 17.3% ~ 58.7%)，敏感性为37.5% （95% CI 15.2% ~ 64.6%）。使用推荐的胆固醇阈值导致DR为28.0% (95% CI 14.3%至47.6%)，敏感性为43.8% （95% CI 19.8%至70.1%）。Simon-Broome标准的DR较低，为11.3% (95% CI 6.0% ~ 20.0%)，特异性为70.9% (95% CI 64.8% ~ 76.5%)，但敏感性较高，为56.3% （95% CI 29.9% ~ 80.2%）。在初级保健中，对于有胆固醇记录的患者，FAMCAT 2在检测基因证实的FH方面比其他病例发现标准表现更好，病例发现不需要事先进行临床审查。NCT03934320。
Familial hypercholesterolaemia (FH) is a common inherited disorder causing premature coronary heart disease (CHD) and death. We have developed the novel Familial Hypercholesterolaemia Case Ascertainment Tool (FAMCAT 1) case-finding algorithm for application in primary care, to improve detection of FH. The performance of this algorithm was further improved by including personal history of premature CHD (FAMCAT 2 algorithm). This study has evaluated their performance, at 95% specificity, to detect genetically confirmed FH in the general population. We also compared these algorithms to established clinical case-finding criteria. Prospective validation study, in 14 general practices, recruiting participants from the general adult population with cholesterol documented. For 260 participants with available health records, we determined possible FH cases based on FAMCAT thresholds, Dutch Lipid Clinic Network (DLCN) score, Simon-Broome criteria and recommended cholesterol thresholds (total cholesterol >9.0 mmol/L if ≥30 years or >7.5 mmol/L if <30 years), using clinical data from electronic and manual extraction of patient records and family history questionnaires. The reference standard was genetic testing. We examined detection rate (DR), sensitivity and specificity for each case-finding criteria. At 95% specificity, FAMCAT 1 had a DR of 27.8% (95% CI 12.5% to 50.9%) with sensitivity of 31.2% (95% CI 11.0% to 58.7%); while FAMCAT 2 had a DR of 45.8% (95% CI 27.9% to 64.9%) with sensitivity of 68.8% (95% CI 41.3% to 89.0%). DLCN score ≥6 points yielded a DR of 35.3% (95% CI 17.3% to 58.7%) and sensitivity of 37.5% (95% CI 15.2% to 64.6%). Using recommended cholesterol thresholds resulted in DR of 28.0% (95% CI 14.3% to 47.6%) with sensitivity of 43.8% (95% CI 19.8% to 70.1%). Simon-Broome criteria had lower DR 11.3% (95% CI 6.0% to 20.0%) and specificity 70.9% (95% CI 64.8% to 76.5%) but higher sensitivity of 56.3% (95% CI 29.9% to 80.2%). In primary care, in patients with cholesterol documented, FAMCAT 2 performs better than other case-finding criteria for detecting genetically confirmed FH, with no prior clinical review required for case finding. NCT03934320.
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影响因子：
39.3
作者：
Nordestgaard BG;Chapman MJ;Humphries SE;Ginsberg HN;Masana L;Descamps OS;Wiklund O;Hegele RA;Raal FJ;Defesche JC;Wiegman A;Santos RD;Watts GF;Parhofer KG;Hovingh GK;Kovanen PT;Boileau C;Averna M;Borén J;Bruckert E;Catapano AL;Kuivenhoven JA;Pajukanta P;Ray K;Stalenhoef AF;Stroes E;Taskinen MR;Tybjærg-Hansen A;European Atherosclerosis Society Consensus Panel
通讯作者：
European Atherosclerosis Society Consensus Panel
影响因子：
2.4
作者：
Green P;Neely D;Humphries SE;Medway FH Audit Steering Committee
通讯作者：
Medway FH Audit Steering Committee
影响因子：
39.2
作者：
Qureshi, Nadeem;Armstrong, Sarah;Kai, Joe
通讯作者：
Kai, Joe
影响因子：
2.9
作者：
Qureshi, Nadeem;Weng, Stephen;Kai, Joe
通讯作者：
Kai, Joe
影响因子：
3.7
作者：
Dhiman, Paula;Kai, Joe;Qureshi, Nadeem
通讯作者：
Qureshi, Nadeem