Velvet Anju J J, Soran Handrean, Clarke Bernard, Motwani Manish, Ordoubadi Farzin F, Daniels Matthew J
Manchester Heart Centre, Manchester Royal Infirmary, Manchester University NHS Foundation Trust, Manchester, UK.
Department of Endocrinology, Manchester Royal Infirmary, Manchester University NHS Foundation Trust, Manchester, UK.
Oxf Med Case Reports. 2020 Sep 22;2020(9):omaa072. doi: 10.1093/omcr/omaa072. eCollection 2020 Sep.
Familial hypercholesterolemia (FH) is an autosomal dominant condition that increases the risk of premature cardiovascular disease. Despite advances in treatment, it remains under detected and under treated. As an inherited condition, it poses a risk to the patient and family members. Most cases are due to defective low-density lipoprotein receptor (LDLR) activity. Heterozygous mutations are common (1:250-1:300). Homozygous FH is very rare (2-3 in a million), with higher circulating cholesterol levels and a poorer cardiovascular prognosis. We present the management of a case of homozygous hypercholesterolemia due to homozygous LDLR mutation. The patient subsequently developed severe coronary artery and aortic valve disease despite aggressive lipid-lowering therapy. We review advanced lipid management options that include lipoprotein apheresis, Proprotein Convertase Subtilisin/Kexin type 9 inhibition, and the microsomal triglyceride transfer protein inhibitor lomitapide.
家族性高胆固醇血症（FH）是一种常染色体显性疾病，会增加早发性心血管疾病的风险。尽管治疗方面取得了进展，但它仍未得到充分检测和治疗。作为一种遗传性疾病，它对患者及其家庭成员构成风险。大多数病例是由于低密度脂蛋白受体（LDLR）活性缺陷所致。杂合突变很常见（1:250 - 1:300）。纯合子FH非常罕见（百万分之二至三），其循环胆固醇水平更高，心血管预后更差。我们介绍了一例因纯合子LDLR突变导致的纯合子高胆固醇血症的治疗情况。尽管进行了积极的降脂治疗，该患者随后仍发展为严重的冠状动脉和主动脉瓣疾病。我们回顾了包括脂蛋白分离、前蛋白转化酶枯草杆菌蛋白酶/kexin 9型抑制以及微粒体甘油三酯转移蛋白抑制剂洛美他派在内的先进脂质管理方案。
