Homozygous familial hypercholesterolemia with an update on cholesterol management

作者：Anju Velvet, Handrean Soran, Bernard Clarke, Manish Motwani, F Ordoubadi, Matthew J. Daniels · 发表于：Oxford Medical Case Reports · 年份：2020 · DOI：10.1093/omcr/omaa072 · 被引用次数：2 · 研究领域：Lipoproteins and Cardiovascular Health、Aortic Thrombus and Embolism、Diabetes, Cardiovascular Risks, and Lipoproteins

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.