Kayıkçıoğlu Meral, Tokgözoğlu Lale
Department of Cardiology, Ege University Medical School, İzmir, Turkey.
Turk Kardiyol Dern Ars. 2017 Apr;45(3):261-267. doi: 10.5543/tkda.2017.25800.
Familial hypercholesterolemia (FH) is a genetic disease characterized by extremely high levels of cholesterol, leading to premature atherosclerosis. Although many countries have already addressed the burden of FH by means of national registries, Turkey has no national FH registry or national screening program to detect FH. Creation of a series of FH registries is planned as part of Turkish FH Initiative endorsed by the Turkish Society of Cardiology to meet this need. This article provides detailed information on the rationale and design of the first 2 FH registries (A-HIT1 and A-HIT2).
A-HIT1 is a nationwide survey of adult homozygous FH (HoFH) patients undergoing low-density lipoprotein (LDL) apheresis (LA) in Turkey. A-HIT1 will provide insight into the clinical status of HoFH patients undergoing LA. Primary objective of this cross-sectional study is to identify how HoFH patients on LA are managed. Inclusion criteria are age >12 years, diagnosis of HoFH, and regular LA treatment. All available apheresis centers were electronically invited to participate in the study. The principal physicians of each center will respond to a questionnaire regarding their attitude toward LA. For each patient, another questionnaire will be used to collect data on clinical status, medication use, and disease data. In addition, patients will be asked to complete self-report questionnaires that provide information on quality of life, disease-related anxiety, and depression. A-HIT2 is a registry of adult FH patients presenting at outpatient clinics. At least 1000 FH patients will be recruited from 30 outpatient clinics representing the 12 statistical regions in Turkey based on the EU NUTS classification. Sites specializing in cardiology, internal medicine, and endocrinology were invited to participate. The primary objective of this cross-sectional study is to determine clinical status and management of patients in Turkey diagnosed with FH. Eligibility for screening was defined as having LDL-cholesterol level >160 mg/dL. Inclusion criteria are age >18 years and diagnosis as possible FH (total score of >2 according to Dutch Lipid Clinic Network criteria). In addition to measuring clinical status of patients, a short survey to assess patient level of disease awareness will also be administered.
A-HIT1 and A-HIT2 are the first nationwide FH registries in Turkey and will provide important information on the management of Turkish FH patients. In addition, it is planned that they will guide establishment of a national policy for the diagnosis and treatment of FH in Turkey.
家族性高胆固醇血症（FH）是一种遗传性疾病，其特征是胆固醇水平极高，可导致早发性动脉粥样硬化。尽管许多国家已通过国家登记系统应对FH的负担，但土耳其尚无国家FH登记系统或用于检测FH的国家筛查计划。作为土耳其心脏病学会认可的土耳其FH倡议的一部分，计划创建一系列FH登记系统以满足这一需求。本文提供了关于前两个FH登记系统（A-HIT1和A-HIT2）的基本原理和设计的详细信息。
A-HIT1是一项针对土耳其接受低密度脂蛋白（LDL）单采术（LA）的成年纯合子FH（HoFH）患者的全国性调查。A-HIT1将深入了解接受LA的HoFH患者的临床状况。这项横断面研究的主要目的是确定接受LA的HoFH患者的管理方式。纳入标准为年龄>12岁、HoFH诊断以及定期LA治疗。所有可用的单采中心均收到电子邀请参与该研究。每个中心的主任医师将回答一份关于他们对LA态度的问卷。对于每位患者，将使用另一份问卷收集有关临床状况、用药情况和疾病数据的数据。此外，患者将被要求完成自我报告问卷，以提供有关生活质量、疾病相关焦虑和抑郁的信息。A-HIT2是一个针对在门诊就诊的成年FH患者的登记系统。将根据欧盟NUTS分类，从代表土耳其12个统计区域的30个门诊诊所招募至少1000名FH患者。邀请了专门从事心脏病学、内科和内分泌学的机构参与。这项横断面研究的主要目的是确定土耳其诊断为FH的患者的临床状况和管理方式。筛查的合格标准定义为低密度脂蛋白胆固醇水平>160mg/dL。纳入标准为年龄>18岁且诊断为可能的FH（根据荷兰脂质诊所网络标准总分>2）。除了测量患者的临床状况外，还将进行一项简短调查以评估患者的疾病知晓水平。
A-HIT1和A-HIT2是土耳其首批全国性FH登记系统，将提供有关土耳其FH患者管理的重要信息。此外，计划它们将指导土耳其FH诊断和治疗国家政策的制定。
