PDF(Pubmed)
Abstract：
As atherosclerosis begins in childhood, early diagnosis and treatment of familial hypercholesterolemia (FH) is considered necessary. The basic diagnosis of pediatric FH (under 15 years of age) is based on hyper-low-density lipoprotein (LDL) cholesterolemia and a family history of FH; however, in this guideline, to reduce overlooked cases, \"probable FH\" was established. Once diagnosed with FH or probable FH, efforts should be made to promptly provide lifestyle guidance, including diet. It is also important to conduct an intrafamilial survey, to identify family members with the same condition. If the level of LDL-C remains above 180 mg/dL, drug therapy should be considered at the age of 10. The first-line drug should be statin. Evaluation of atherosclerosis should be started using non-invasive techniques, such as ultrasound. The management target level is an LDL-C level of less than 140 mg/dL. If a homozygous FH is suspected, consult a specialist and determine the response to pharmacotherapy with evaluating atherosclerosis. If the response is inadequate, initiate lipoprotein apheresis as soon as possible.
摘要：
动脉粥样硬化始于童年，家族性高胆固醇血症(FH)的早期诊断和治疗被认为是必要的.小儿FH（15岁以下）的基本诊断基于高低密度脂蛋白（LDL）胆固醇血症和FH家族史；然而，在这个准则中,为了减少被忽视的案件，“可能的FH”已建立。一旦诊断为FH或可能的FH，应努力及时提供生活方式指导，包括饮食。进行家族内部调查也很重要，以识别具有相同条件的家庭成员。如果LDL-C水平保持在180mg/dL以上，药物治疗应该在10岁时考虑。一线药物应该是他汀类药物。动脉粥样硬化的评估应该开始使用非侵入性技术，比如超声波。管理目标水平是小于140mg/dL的LDL-C水平。如果怀疑是纯合FH，咨询专家，并通过评估动脉粥样硬化来确定对药物治疗的反应。如果反应不充分，尽快启动脂蛋白单采。
