Fat, Cholesterol and Genetics 2019 Jacques Genest MD Cardiovascular - PowerPoint PPT Presentation

Fat, Cholesterol and Genetics 2019 Jacques Genest MD Cardiovascular Health Across the Lifespan McGill University Health Center ACC-Rockies 12 March 2019

Chylomicronemia Triglycerides > 10 mmol/L (885 mg/dL) Familial Chylomicronemia Type V Hyperlipidemia Syndrome (FCS) ▪ Prevalence 1/600 Chylomicrons/ (Type I Hyperlipidemia) ▪ Polygenic remnants Orphan disease ▪ Obesity, Met syn; BMI  ▪ Prevalence: 1/10 6 ▪ Diabetes ▪ LPL deficiency ▪ HTA ▪ Rare (GPIHBP1 VLDL ▪ Alcohol excess ▪ APOC2, APOA5, LMF1) ▪ Risk of ASCVD  ▪ Young age ▪ Women>Men IDL ▪ BMI normal ▪ Labs: ▪ Risk of pancreatitis  ▪ ApoB  Lp(a) ▪ Elevated transaminases ▪ Labs: ▪ ApoB  LDL HDL

Lp(a) Lp(a) > 50 mg/dL Chylomicrons/ remnants Lp(a) Excess ▪ Prevalence: 1:5 ? VLDL ▪ Genetically determined ( APOA gene polymorphisms) ▪ Risk of ASCVD  IDL ▪ Treatment: Lp(a) ▪ None accepted ▪ Statins ineffective ▪ PCSK9  25-30% LDL ▪ asRNA HDL

LDL LDL-C > 5.0 mmol/L Chylomicrons/ remnants VLDL LDL-C > 5.0 mmol/L ▪ Prevalence: 0.05 ▪ Familial Hypercholesterolemia IDL ▪ 0.004 ▪ Risk of ASCVD  Lp(a) ▪ Treatment: ▪ Statins LDL ▪ Ezetimibe ▪ PCSK9 ▪ PCSK9 asRNA HDL

US Guidelines 2018