Genetics of Familial Hypercholesterolemia

被引：72

作者：

Brautbar, Ariel ^{[1
,2
,3
]}

Leary, Emili ^{[4
,5
]}

Rasmussen, Kristen ^{[6
]}

Wilson, Don P. ^{[7
]}

Steiner, Robert D. ^{[8
,9
]}

Virani, Salim ^{[10
,11
]}

机构：

[1] Cook Childrens Med Ctr, Div Genet, Ft Worth, TX 76104 USA

[2] Baylor Coll Med, Dept Med, Houston, TX 77030 USA

[3] Marshfield Clin Res Fdn, Ctr Human Genet, Marshfield, WI USA

[4] Univ Wisconsin, Sch Pharm, Madison, WI 53706 USA

[5] Marshfield Clin Fdn Med Res & Educ, Clin Pharm Serv, Marshfield, WI USA

[6] Marshfield Clin Fdn Med Res & Educ, Ctr Human Genet, Marshfield, WI USA

[7] Cook Childrens Med Ctr, Div Pediat Endocrinol & Diabet, Ft Worth, TX USA

[8] Marshfield Clin Res Fdn, Marshfield, WI USA

[9] Univ Wisconsin, Dept Pediat, Madison, WI USA

[10] Baylor Coll Med, Michael E DeBakey Vet Affairs Med Ctr, Houston, TX 77030 USA

[11] Baylor Coll Med, Dept Med, Sect Cardiovasc Res, Houston, TX 77030 USA

来源：

CURRENT ATHEROSCLEROSIS REPORTS | 2015年 / 17卷 / 04期

关键词：

Familial hypercholesterolemia (FH); Low-density lipoprotein receptor (LDLR); Apolipoprotein B (APOB); Familial defective apolipoprotein B-100 (FDB); Proprotein convertase subtilisin/kexin type 9 (PCSK9); Autosomal recessive hypercholesterolemia (ARH); LDL receptor adapter protein 1 (LDLRAP1); Genetic counseling (GC); Cascade testing; Penetrance; Cerebrotendinous xanthomatosis (CTX); Sitosterolemia; Cholesterol ester storage disease (CESD); AUTOSOMAL-DOMINANT HYPERCHOLESTEROLEMIA; LYSOSOMAL ACID LIPASE; ESTER STORAGE DISEASE; LDL-RECEPTOR GENE; CEREBROTENDINOUS-XANTHOMATOSIS; MOLECULAR-GENETICS; APOLIPOPROTEIN-B; RECESSIVE HYPERCHOLESTEROLEMIA; CARDIOVASCULAR-DISEASE; PHENOTYPIC-EXPRESSION;

D O I：

10.1007/s11883-015-0491-z

中图分类号：

R6 [外科学];

学科分类号：

1002 ; 100210 ;

摘要：

Familial hypercholesterolemia (FH) is a genetic disorder characterized by elevated low-density lipoprotein (LDL) cholesterol and premature cardiovascular disease, with a prevalence of approximately 1 in 200-500 for heterozygotes in North America and Europe. Monogenic FH is largely attributed to mutations in the LDLR, APOB, and PCSK9 genes. Differential diagnosis is critical to distinguish FH from conditions with phenotypically similar presentations to ensure appropriate therapeutic management and genetic counseling. Accurate diagnosis requires careful phenotyping based on clinical and biochemical presentation, validated by genetic testing. Recent investigations to discover additional genetic loci associated with extreme hypercholesterolemia using known FH families and population studies have met with limited success. Here, we provide a brief overview of the genetic determinants, differential diagnosis, genetic testing, and counseling of FH genetics.

引用

页数：17

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