Schmidt Nina, Grammer Tanja, Gouni-Berthold Ioanna, Julius Ulrich, Kassner Ursula, Klose Gerald, König Christel, Laufs Ulrich, Otte Britta, Steinhagen-Thiessen Elisabeth, Wanner Christoph, März Winfried
D•A•CH-Gesellschaft Prävention von Herz-Kreislauf-Erkrankungen e.V., Hamburg, Germany.
Mannheimer Institute for Public Health, Mannheim Medical Faculty, University of Heidelberg, Heidelberg, Germany.
Atheroscler Suppl. 2017 Nov;30:72-76. doi: 10.1016/j.atherosclerosissup.2017.05.015. Epub 2017 Jun 1.
Familial hypercholesterolemia (FH) is an inherited disorder of the LDL metabolism, leading to cardiovascular disease, even at young age. This risk can be significantly lowered by early diagnosis and treatment. About 270,000 patients affected in Germany are not diagnosed correctly and only a small number is treated properly. To improve FH diagnosis in the general population a cascade screening and registry data is warranted, yet missing in Germany. This project aims to fill this gap.
Study assistants approach physicians and lipid clinics to introduce the cascade screening and registry. The physicians identify potential FH patients and include them in the study. Patient data is acquired via questionnaires about medical history. Patients meeting at least two inclusion criteria (LDL-C >190 mg/dl or total cholesterol >290 mg/dl; tendon xanthomas; family history of hypercholesterolemia or early myocardial infarction) are included in the registry. Family members will be contacted and physicians get feedback about diagnosis and treatment options. Ethical approvals for all German states have been collected.
So far physicians, lipid clinics and patients within the Rhein-Neckar region, the Saarland, North-Rhine-Westphalia, Upper Bavaria, Bremen, Saxonia and Berlin have joined the study. We expect to include more than 3000 patients during the next two years.
After initial patient and data collection the project aims to improve FH-diagnosis and treatment. Utilizing registry data might advance diagnostic criteria and improve detection of FH and thus prevent CVD in this population.
家族性高胆固醇血症（FH）是一种低密度脂蛋白代谢的遗传性疾病，即使在年轻时也会导致心血管疾病。早期诊断和治疗可显著降低这种风险。在德国，约有270,000名受影响患者未得到正确诊断，只有少数患者得到了适当治疗。为改善普通人群中的FH诊断，需要进行级联筛查和登记数据，但德国目前尚缺这些。本项目旨在填补这一空白。
研究助手与医生和血脂诊所联系，介绍级联筛查和登记。医生识别潜在的FH患者并将其纳入研究。通过关于病史的问卷获取患者数据。符合至少两项纳入标准（低密度脂蛋白胆固醇>190mg/dl或总胆固醇>290mg/dl；肌腱黄色瘤；高胆固醇血症或早期心肌梗死家族史）的患者被纳入登记。将联系家庭成员，医生会得到关于诊断和治疗方案的反馈。已获得德国所有州的伦理批准。
到目前为止，莱茵-内卡地区、萨尔州、北莱茵-威斯特法伦州、上巴伐利亚州、不来梅、萨克森州和柏林的医生、血脂诊所和患者已加入该研究。我们预计在未来两年内纳入超过3000名患者。
在初步收集患者和数据后，该项目旨在改善FH的诊断和治疗。利用登记数据可能会推进诊断标准，提高FH的检测率，从而预防该人群中的心血管疾病。
