Application of expanded genetic analysis in the diagnosis of familial hypercholesterolemia in patients with very early-onset coronary artery disease.
Ye-Xuan CaoNa-Qiong WuDi SunHui-Hui LiuJing-Lu JinSha LiYuan-Lin GuoCheng-Gang ZhuYing GaoQiu-Ting DongGeng LiuQian DongJian-Jun LiPublished in: Journal of translational medicine (2018)
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.
Keyphrases
- early onset
- coronary artery disease
- end stage renal disease
- late onset
- newly diagnosed
- ejection fraction
- chronic kidney disease
- prognostic factors
- peritoneal dialysis
- percutaneous coronary intervention
- heart failure
- type diabetes
- coronary artery bypass grafting
- patient reported outcomes
- cardiovascular disease
- atrial fibrillation
- left ventricular
- acute coronary syndrome
- patient reported
- low density lipoprotein