Farnier Michel, Civeira Fernando, Descamps Olivier
Lipid Clinic, Point Médical, Rond Point de la Nation, Dijon, France.
Lipid Clinic, Hospital Universitario Miguel Servet, Instituto de Investigación Sanitaria Aragón, CIBERCV, Universidad de Zaragoza, Spain.
Atheroscler Suppl. 2017 Apr;26:25-35. doi: 10.1016/S1567-5688(17)30022-3.
Familial hypercholesterolaemia (FH) is a genetic disorder associated with significantly elevated plasma low-density lipoprotein cholesterol (LDL-C) and premature coronary heart disease (CHD). Optimal management of FH relies on early identification and treatment with statins alone or in combination with other lipid-lowering therapies. A lack of awareness of FH and its manifestations among primary care physicians and specialists has led to many individuals being misdiagnosed in the early stages of the disease, further increasing the risk of CHD and requiring much more intensive lipid-lowering strategies. Therefore, implementing clinical guidelines to optimise the diagnosis and treatment of FH is essential.
A working group of clinical experts managing FH patients in their daily practice collaborated in order to provide healthcare professionals with a practical evidence-based guide to streamline early diagnosis and treatment of FH.
Following thorough evaluation of available data and clinical guidelines, the expert working group provided recommendations on how to detect patients with a suspicion of FH; criteria for clinical and genetic diagnoses of FH; how to assess atherosclerosis in primary care and identify patients at the highest risk; follow-up approaches for patients' families; the most optimal treatment combinations; and when to start lipid-lowering therapy in children with FH.
The expert working group placed great importance on an individualised approach in the management of FH and highlighted the unmet need for both improved education and communication with the laboratory for physicians when LDL-C levels are significantly elevated. Screening high-risk individuals, or cascade screening, is the most cost-effective way of identifying FH cases and initiating adequate statin therapy alone or in combination with other lipid-lowering therapies. In the case of severe FH, where plasma LDL-C levels remain high following maximum-tolerated statin and ezetimibe treatment, PCSK9 inhibitors should be considered.
家族性高胆固醇血症（FH）是一种遗传性疾病，与血浆低密度脂蛋白胆固醇（LDL-C）显著升高及早发性冠心病（CHD）相关。FH的最佳管理依赖于早期识别，并单独使用他汀类药物或与其他降脂疗法联合进行治疗。初级保健医生和专科医生对FH及其表现缺乏认识，导致许多患者在疾病早期被误诊，进而增加了冠心病风险，并需要更强化的降脂策略。因此，实施优化FH诊断和治疗的临床指南至关重要。
一个在日常工作中管理FH患者的临床专家工作组进行合作，以便为医疗保健专业人员提供一份实用的循证指南，以简化FH的早期诊断和治疗。
在对现有数据和临床指南进行全面评估后，专家工作组就如何检测疑似FH患者、FH的临床和基因诊断标准、如何在初级保健中评估动脉粥样硬化以及识别高危患者、患者家庭的随访方法、最优化的治疗组合，以及FH儿童何时开始降脂治疗提供了建议。
专家工作组高度重视FH管理中的个体化方法，并强调当LDL-C水平显著升高时，医生在改善教育及与实验室沟通方面仍存在未满足的需求。筛查高危个体或级联筛查是识别FH病例并单独或与其他降脂疗法联合启动适当他汀类药物治疗的最具成本效益的方法。对于严重FH患者，在接受最大耐受剂量他汀类药物和依折麦布治疗后血浆LDL-C水平仍高的情况下，应考虑使用前蛋白转化酶枯草溶菌素9（PCSK9）抑制剂。
