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- Title
Application of expanded genetic analysis in the diagnosis of familial hypercholesterolemia in patients with very early-onset coronary artery disease.
- Authors
Cao, Ye-Xuan; Wu, Na-Qiong; Sun, Di; Liu, Hui-Hui; Jin, Jing-Lu; Li, Sha; Guo, Yuan-Lin; Zhu, Cheng-Gang; Gao, Ying; Dong, Qiu-Ting; Liu, Geng; Dong, Qian; Li, Jian-Jun
- Abstract
<bold>Background: </bold>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.<bold>Methods: </bold>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.<bold>Results: </bold>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 17.1% of patients with possible to definite FH. Twenty-five (62.5%) and seventeen (42.5%) patients with pathogenic mutations were undiagnosed according to SB and DLCN criteria. FH variant carriers, especially homozygotes, had significantly higher plasma LDL-C levels. The best LDL-C threshold for genetically confirmed FH was 4.56 mmol/L in the present study.<bold>Conclusions: </bold>FH is really a common cause for very young CAD patients (≤ 35 years) with a 38.1% of causative mutations in China and best LDL-C threshold for predicting mutations was 4.56 mmol/L. The underdiagnostic rate of clinical criteria was around 42.5-62.5%, suggesting that the expanded genetic testing could indeed promote the diagnosis of FH.
- Subjects
GENETIC testing; HYPERCHOLESTEREMIA diagnosis; CORONARY disease; LOW density lipoproteins; HOSPITAL patients
- Publication
Journal of Translational Medicine, 2018, Vol 16, Issue 1, pN.PAG
- ISSN
1479-5876
- Publication type
journal article
- DOI
10.1186/s12967-018-1737-7