Lipid Disorders Clinic, Metabolic Research Centre and Department of Internal Medicine, Royal Perth Hospital, School of Medicine and Pharmacology, Melbourne, Australia.
Int J Evid Based Healthc. 2012 Sep;10(3):211-21. doi: 10.1111/j.1744-1609.2012.00272.x.
Familial hypercholesterolaemia (FH) is a condition that should be familiar to all health professionals involved in preventive medicine. FH is the most common and serious monogenic disorder of lipid metabolism that leads to premature coronary heart disease. However, most cases remain undetected or inadequately treated in our community. We provide an overview of FH, with emphasis on evidence for treatment, new models of care (MoCs) and health economic evaluations. Evidence for treatment is based on cohort studies; while this is a low level class of evidence, MoCs concur in recommending early intervention and lowering of plasma low-density lipoprotein-cholesterol levels by at least 40% with statins. Preliminary health economic evaluations suggest that detecting and treating FH is cost-effective, but further studies based on high-quality international data and standardised costing methods are needed. If the recommendations in the published MoCs are followed, there is likely to be significant improvement in the health and quality of life of patients with FH and their families, as well as major cost savings in healthcare for end-organ damage, including myocardial infarction, acute coronary syndromes and possibly stroke, but this requires to be verified.
家族性高胆固醇血症（FH）是所有参与预防医学的医疗保健专业人员都应熟悉的病症。FH 是导致早发性冠心病的最常见和最严重的脂质代谢单基因疾病。然而，在我们的社区中，大多数病例仍未被发现或治疗不当。我们提供了 FH 的概述，重点介绍了治疗、新的护理模式（MoC）和健康经济评估的证据。治疗的证据基于队列研究；尽管这是一种低水平的证据，但 MoC 一致建议早期干预，并通过他汀类药物将血浆低密度脂蛋白胆固醇水平降低至少 40%。初步健康经济评估表明，检测和治疗 FH 具有成本效益，但需要基于高质量的国际数据和标准化成本计算方法进行进一步研究。如果遵循已发表的 MoC 中的建议，FH 患者及其家属的健康和生活质量可能会得到显著改善，同时也会在治疗包括心肌梗死、急性冠状动脉综合征和可能的中风在内的终末器官损伤方面节省大量医疗保健费用，但这需要进一步验证。
