Genetic testing for early diagnosis of familial hypercholesterolemia and analysis of clinical and genetic characteristics of a family with familial hypercholesterolemia
Objective To early diagnose a family with familial hypercholesterolemia(FH)through genetic testing in order to improve the ability of clinicians to identify and diagnose FH and provide the early intervention and treatment.Methods Clinical data were collected from a family with hypercholesterolemia treated in our hospital.Genetic sequencing analysis was conducted on the family members.Results Seven family members,aged between 8 and 59 years,were identified with increased levels of cholesterol and LDL-C.Individual Ⅱ5 suffered coronary artery stenosis and had coronary stent implantation due to repeated angina pectoris.Genetic testing identified a heterozygous mutation at the LDLR gene Exon 13 c.1879 G＞A(p.A627T)in all affected members.The diagnosis of FH was confirmed.Conclusions The onset of FH is insidious.There are no obvious clinical symptoms in the early stage,so that it is easily missed.Genetic testing technology for genetic screening of FH patients and their relatives not only helps early diagnosis,but also provides personalized treatment based on genotype.It is especially important for preventive treatment of pediatric patients.
万方数据
维普
