{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Cao YX"],"funding":["CAMS Major Collaborative Innovation Projec","Capital Health Development Fund"],"pagination":["345"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC6288904"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["16(1)"],"pubmed_abstract":["<h4>Background</h4>Patients with monogenic familial hypercholesterolemia (FH) have high risk for coronary artery disease (CAD). A recent FH Expert Panel suggested that FH was underdiagnosed and undertreated which needs early diagnosis. Moreover, the proportion of DNA-confirmed FH patients hospitalized with very early-onset (≤ 35 years) CAD remains uncertain.<h4>Methods</h4>One hundred and five patients with age ≤ 35 years and LDL-C ≥ 3.4 mmol/L were tested for 9 genes (LDLR, APOB, PCSK9, APOE, STAP1, LIPA, LDLRAP1, ABCG5/8). Dutch Lipid Clinic Network (DLCN) and Simon Broome (SB) criteria for FH were also performed.<h4>Results</h4>The prevalence of genetically confirmed FH was 38.1% (n = 40) in 105 patients. DLCN categorized 26.7% patients to probable and definite FH while SB identified 17"],"journal":["Journal of translational medicine"],"pubmed_title":["Application of expanded genetic analysis in the diagnosis of familial hypercholesterolemia in patients with very early-onset coronary artery disease."],"pmcid":["PMC6288904"],"funding_grant_id":["2016-I2M-1-011","201614035"],"pubmed_authors":["Liu HH","Dong Q","Cao YX","Dong QT","Jin JL","Li S","Sun D","Gao Y","Guo YL","Wu NQ","Li JJ","Zhu CG","Liu G"],"additional_accession":[]},"is_claimable":false,"name":"Application of expanded genetic analysis in the diagnosis of familial hypercholesterolemia in patients with very early-onset coronary artery disease.","description":"<h4>Background</h4>Patients with monogenic familial hypercholesterolemia (FH) have high risk for coronary artery disease (CAD). A recent FH Expert Panel suggested that FH was underdiagnosed and undertreated which needs early diagnosis. Moreover, the proportion of DNA-confirmed FH patients hospitalized with very early-onset (≤ 35 years) CAD remains uncertain.<h4>Methods</h4>One hundred and five patients with age ≤ 35 years and LDL-C ≥ 3.4 mmol/L were tested for 9 genes (LDLR, APOB, PCSK9, APOE, STAP1, LIPA, LDLRAP1, ABCG5/8). Dutch Lipid Clinic Network (DLCN) and Simon Broome (SB) criteria for FH were also performed.<h4>Results</h4>The prevalence of genetically confirmed FH was 38.1% (n = 40) in 105 patients. DLCN categorized 26.7% patients to probable and definite FH while SB identified 17","dates":{"release":"2018-01-01T00:00:00Z","publication":"2018 Dec","modification":"2026-07-16T17:19:08.768Z","creation":"2019-03-27T00:11:53Z"},"accession":"S-EPMC6288904","cross_references":{"pubmed":["30526649"],"doi":["10.1186/s12967-018-1737-7"]}}