2014年1月2日 · Familial hypercholesterolemia (FH) is characterized by significantly elevated low-density lipoprotein cholesterol (LDL-C) that leads to atherosclerotic plaque deposition in the coronary arteries and proximal aorta at an early age and increases the risk of premature cardiovascular events such as angina and myocardial infarction; stroke occurs mor...

2020年2月3日 · The primary genetic cause of familial hypercholesterolemia (FH) is related to mutations in the LDLR gene encoding the Low-density Lipoprotein Receptor. LDLR structure is organized in 5...

In this review, we discuss the clinical phenotypes of heterozygous and homozygous FH, the genetic variants in four genes (LDLR/APOB/PCSK9/LDLRAP1) underpinning the FH phenotype as well as the most recent in vitro experimental approaches used to investigate molecular defects affecting the LDL receptor pathway. In addition, we review ...

Familial hypercholesterolemia (FH) is a genetic disorder characterized by high cholesterol levels, specifically very high levels of low-density lipoprotein cholesterol (LDL cholesterol), in the blood and early cardiovascular diseases.

家族性高胆固醇血症 (FH)是以肌腱黄瘤、 低密度脂蛋白胆固醇 (LDL-C)显著升高和早发 冠心病 (PCAD)为特征的一种常染色体遗传性疾病。 临床上分为杂合子FH (HeFH)和纯合子FH (HoFH)，杂合子及纯合子患者血浆LDL-C水平分别为正常人的2～3倍和6～8倍。 随着基因测序技术的发展，有研究认为低密度脂蛋白受体（LDLR）、载脂蛋白B（ApoB）、前蛋白转化酶枯草溶菌素9（PCSK9）、LDLR衔接蛋白1（LDLRAP1）等基因可能与FH发病有关，本文将就FH患 …

2024年9月23日 · The LDLR is an 893-amino acid cell surface glycoprotein that binds and internalizes LDL particles, primarily in the liver. Mutations in LDLR (i.e., “classic” FH) give rise to nearly 90% of cases of clinical ADH .

2024年3月15日 · 家族性高胆固醇血症（Familial hypercholesterolemia，FH， OMIM # 143890）是一种遗传性疾病，其特征是循环中的 低密度脂蛋白胆固醇 （LDL-C）水平终身升高，多部位肌腱黄色瘤，如果不及时治疗，患 心血管疾病 的风险严重增加，严重者青少年时期可发生 冠心病 甚至 心梗 死亡。 FH根据基因突变类型可分为杂合子型FH（heterozygous FH，HeFH）、纯合子型FH（homozygous FH，HoFH）、复合杂合子型和双重杂合子型FH4 …

2015年11月26日 · Familial hypercholesterolemia (FH) is a common and serious dominant genetic disease and its main pathogenic gene is the low-density lipoprotein receptor (LDLR) gene....

Autosomal recessive hypercholesterolemia clinically resembles FH but is caused by mutations in an LDLR adaptor protein, which is named after the disorder (ARH). LDLR adaptor protein deficient mice (Arh-/-) have impaired LDLR internalization in a variety of tissues such as the liver and exhibit a major defect in LDL clearance [31,32].

FH is a common metabolic disease clinically characterized by the presence of xanthomas and premature coronary heart disease. To date, about 1 741 variants have been identified in gene LDLR, among which 108 variants were identified in Chinese FH patients.