title: Heterozygous familial hypercholesterolemia presenting as chylomicronemia syndrome.
abstract: Heterozygous familial hypercholesterolemia (HeFH) is characterized by a twofold elevation in low-density lipoprotein cholesterol. Severe elevations in triglycerides are an uncommon manifestation. In this case report, we discuss an atypical presentation of the chylomicronemia syndrome in a patient with HeFH. Genetic analyses of the low-density lipoprotein receptor mutation and single nucleotide polymorphisms that elevate triglycerides provide confirmation for this atypical presentation of HeFH.
authors.affiliation: Cardiometabolics Unit, Mount Sinai Heart, Icahn School of Medicine at Mount Sinai, New York, NY, USA. Electronic address: robert.rosenson@mssm.edu.
authors.forename: Robert S
authors.initials: RS
authors.lastname: Rosenson
authors.affiliation: Cardiometabolics Unit, Mount Sinai Heart, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
authors.forename: Sherwin D
authors.initials: SD
authors.lastname: Najera
authors.affiliation: Department of Medicine and Robarts Research Institute, Schulich School of Medicine, Western University, London, ON, Canada.
authors.forename: Robert A
authors.initials: RA
authors.lastname: Hegele
mesh_terms: D000328:Adult; D006579:Heterozygote; D006801:Humans; D008072:Hyperlipoproteinemia Type I / Q000150:complications*; D006938:Hyperlipoproteinemia Type II / Q000097:blood / Q000150:complications* / Q000175:diagnosis / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D014280:Triglycerides / Q000097:blood
chemical_list: D014280:Triglycerides
keywords: Chylomicronemia syndrome; Genetics; Heterozygous familial hypercholesterolemia; PCSK9 inhibitors; Triglyceride rich lipoproteins