Plana Núria, Rodríguez-Borjabad Cèlia, Ibarretxe Daiana, Masana Lluís
Unitat de Medicina Vascular i Metabolisme, Hospital Universitari Sant Joan de Reus, Unitat d'Investigació en Lípids i Arteriosclerosi, Universitat Rovira i Virgili, Institut d'Investigació Sanitària Pere Virgili (IISPV), Centro de Investigación Biomédica en Red de Diabetes y Enfermedades Metabólicas (CIBERDEM), Reus, Tarragona, España.
Unitat de Medicina Vascular i Metabolisme, Hospital Universitari Sant Joan de Reus, Unitat d'Investigació en Lípids i Arteriosclerosi, Universitat Rovira i Virgili, Institut d'Investigació Sanitària Pere Virgili (IISPV), Centro de Investigación Biomédica en Red de Diabetes y Enfermedades Metabólicas (CIBERDEM), Reus, Tarragona, España.
Clin Investig Arterioscler. 2017 May-Jun;29(3):129-140. doi: 10.1016/j.arteri.2016.11.002. Epub 2017 Apr 5.
Familial hypercholesterolemia (FH) is the most common genetic disorder in childhood, but in most cases is not detected. High levels of low-density lipoprotein cholesterol are present since the child's birth and this fact will suppose silent development of early atherosclerosis. In cases of homozygous FH, the coronary disease will appear before 20s and in cases of heterozygous FH will occur in middle age. Despite published data, there is not agreement about how and when perform the screening. Familial history of early cardiovascular disease plus presence of hypercholesterolemia in parents is crucial for detection and diagnosis. Actually, it is topic of discussion that it is necessary to achieve therapeutic goals from an early age to improve prognosis. Lifestyle changes are the first line therapy. Statins are the lipid-lowering drugs of choice but the optimal age to start therapy it is still controversial. In this article, current recommendations of expert consensus guidelines about the management and new line therapies of child and adolescents are reviewed.
家族性高胆固醇血症(FH)是儿童期最常见的遗传性疾病,但在大多数情况下未被检测出来。自儿童出生起就存在高水平的低密度脂蛋白胆固醇,这一事实意味着早期动脉粥样硬化会悄然发展。在纯合子FH病例中,冠心病会在20岁之前出现,而在杂合子FH病例中则会在中年时发生。尽管有已发表的数据,但对于如何以及何时进行筛查尚无共识。早期心血管疾病家族史加上父母存在高胆固醇血症对于检测和诊断至关重要。实际上,从早年就实现治疗目标以改善预后是否必要仍是一个讨论的话题。生活方式改变是一线治疗方法。他汀类药物是降脂药物的首选,但开始治疗的最佳年龄仍存在争议。在本文中,对专家共识指南关于儿童和青少年管理及新的治疗方法的当前建议进行了综述。