Constantin A T, Covacescu S M, Kozma A, Gherghina I, Lazarescu H
"Alessandrescu-Rusescu" National Institute for Mother and Child Health - Clinical Department of Pediatrics, Bucharest, Romania.
"Alessandrescu-Rusescu" National Institute for Mother and Child Health - Department of Research in Social Pediatrics and Obstetrics, Bucharest, Romania.
Acta Endocrinol (Buchar). 2019 Jul-Sep;15(3):378-383. doi: 10.4183/aeb.2019.378.
Familial hypercholesterolemia (FH) is a genetic disease with autosomal dominant transmission, characterised by high blood cholesterol levels. The evolution of this disease leads to primary atherosclerosis and cardiovascular disease. Patients with HF develop atherosclerosis by the age of 20 and usually do not survive past the age of 30. We present the case and oro-dental aspects of a preschooler that was diagnosed at the age of 4 with FH, compound heterozygote (mutation/genotype1 LDLR: C20IX, exon 4; mutation/genotype2 LDLR: G571E, exon 12) and the experience of our clinic in the management of this patient that received off-label treatment with statins. When diagnosed, his cholesterol level was 932 mg/dL and his LDL-cholesterol level was 792 mg/dL. Treatment with rosuvastatin and ezetimibe was prescribed. Both substances (rosuvastatin and ezetimibe) are not approved for children under the age of 6 in Europe. Taking into considerations the diagnosis and prognosis for unfavorable evolution, treatment with statins was started at the age of 5 years.
家族性高胆固醇血症（FH）是一种常染色体显性遗传疾病，其特征是血液胆固醇水平高。这种疾病的发展会导致原发性动脉粥样硬化和心血管疾病。FH患者在20岁时就会发展为动脉粥样硬化，通常活不过30岁。我们介绍了一名4岁时被诊断为FH的学龄前儿童的病例及口腔方面的情况，该患儿为复合杂合子（突变/基因型1 LDLR：C20IX，第4外显子；突变/基因型2 LDLR：G571E，第12外显子），以及我们诊所对该接受他汀类药物标签外治疗的患者的管理经验。确诊时，他的胆固醇水平为932毫克/分升，低密度脂蛋白胆固醇水平为792毫克/分升。处方了瑞舒伐他汀和依折麦布进行治疗。在欧洲，这两种药物（瑞舒伐他汀和依折麦布）均未被批准用于6岁以下儿童。考虑到诊断结果和不良发展的预后，5岁时开始使用他汀类药物治疗。
