SYNLAB Holding Germany GmbH, SYNLAB Academy, Mannheim, Germany.
Vth Department of Medicine (Nephrology, Hypertensiology, Rheumatology, Endocrinology, Diabetology), Medical Faculty Mannheim, University of Heidelberg, Mannheim, Germany.
Sci Rep. 2021 Oct 14;11(1):20421. doi: 10.1038/s41598-021-99961-y.
Diagnosis rates of familial hypercholesterolemia (FH) remain low. We implemented FH ALERT to assess whether alerting physicians for the possibility of FH impacted additional diagnostic activity. The study was conducted from SYNLAB laboratory Weiden (Bavaria). Beyond common reporting of LDL-C or TC, 1411 physicians covering approximately a population of 1.5 million people were eligible to receive an alert letter (AL) including information on FH, if laboratory results exceeded thresholds as follows: adults LDL-C ≥ 190-250 mg/dl (to convert into mmol/l multiply with 0.0259), TC ≥ 250 to ≤ 310 mg/dl (probable suspicion); LDL-C > 250 mg/dl and TC > 310 mg/dl (strong suspicion). Persons below 18 years were alerted for LDL-C 140 mg/dl and TC ≥ 200 mg/dl (strong suspicion). Patients above 60 years were excluded. Our readouts were characteristics of involved physicians, rate of ALs issued, acceptance, and subsequent diagnostic activity. Physicians were mainly general practitioners in ambulatory care. 75% of the ordered tests were for TC, 25% for LDL-C. We issued 3512 ALs (~ 5% of tests) triggered by 2846 patients. 86% of eligible physicians stayed with the initiative, 32.7% were alerted, and 70% were positive upon call-center survey. We registered 101 new visitors of www.fhscore.eu and sent out 93 kits for genetics. Thereof, 26 were returned and 5 patients were positive for FH. Physicians were in general open to our approach. Although genetic testing was taken up with caution, this 3-months pilot examination resulted in a greater rate of patients with FH diagnosed than previous screening projects. Further education on FH in primary care is required to improve FH detection in the community.
家族性高胆固醇血症（FH）的诊断率仍然较低。我们实施了 FH 警报（FH ALERT），以评估提醒医生 FH 的可能性是否会增加额外的诊断活动。该研究在巴伐利亚魏登的 SYNLAB 实验室进行。除了常见的 LDL-C 或 TC 报告外，有 1411 名覆盖约 150 万人口的医生有资格收到警报信（AL），其中包括 FH 信息，如果实验室结果超过以下阈值：成年人 LDL-C≥190-250mg/dl（将 mg/dl 转换为 mmol/l 时乘以 0.0259），TC≥250 至≤310mg/dl（可能怀疑）；LDL-C>250mg/dl 和 TC>310mg/dl（强烈怀疑）。18 岁以下的人会因 LDL-C 140mg/dl 和 TC≥200mg/dl（强烈怀疑）而收到警报。60 岁以上的患者被排除在外。我们的检测结果是涉及医生的特征、AL 发放率、接受率和随后的诊断活动。医生主要是在门诊护理中的全科医生。75%的检测是为 TC，25%是为 LDL-C。我们根据 2846 名患者的情况，共发出了 3512 封 AL（占测试的 5%）。86%的合格医生继续参与该计划，32.7%的医生收到了警报，在呼叫中心调查中，有 70%的医生是阳性。我们在 www.fhscore.eu 网站上注册了 101 名新访客，并发出了 93 个基因检测包。其中，有 26 个被退回，有 5 名患者 FH 检测呈阳性。医生普遍对我们的方法持开放态度。尽管基因检测的采用持谨慎态度，但与之前的筛查项目相比，这项为期 3 个月的试点检查结果导致更多的 FH 患者被诊断出来。需要在初级保健中进一步开展 FH 教育，以提高社区中 FH 的检出率。
