Novel Presentation of Homozygous Familial Hypercholesterolemia With Homozygous Variants in Both LDLR and APOB Genes

Robert Derenbecker; Karan Kapoor; Emily Brown; Thorsten Leucker; Steven R Jones; Parvez M Lokhandwala; Kathleen H Byrne; Seth S Martin

doi:10.1016/j.jaccas.2019.07.023

Novel Presentation of Homozygous Familial Hypercholesterolemia With Homozygous Variants in Both LDLR and APOB Genes

JACC Case Rep. 2019 Sep 18;1(3):346-349. doi: 10.1016/j.jaccas.2019.07.023. eCollection 2019 Oct.

Authors

Robert Derenbecker¹, Karan Kapoor¹, Emily Brown¹, Thorsten Leucker¹, Steven R Jones¹, Parvez M Lokhandwala¹, Kathleen H Byrne¹, Seth S Martin¹

Affiliation

¹ Ciccarone Center for the Prevention of Cardiovascular Disease, Division of Cardiology, Department of Medicine, Johns Hopkins University School of Medicine; and the Division of Transfusion Medicine, Department of Pathology, Johns Hopkins University School of Medicine, Baltimore, Maryland.

Abstract

This case report describes a 50-year-old-woman from Southeast Asia with extensive atherosclerotic cardiovascular disease, found to have homozygous familial hypercholesterolemia caused by variants of uncertain significance in both the APOB and LDLR genes. Medications were insufficient, and thus LDL apheresis was initiated to further decrease LDL-C. (Level of Difficulty: Beginner.).

Keywords: ASCVD, atherosclerotic cardiovascular disease; CABG, coronary artery bypass grafting; CAD, coronary artery disease; Dutch Lipid Clinic; HeFH, heterozygous familial hypercholesterolemia; HoFH, homozygous familial hypercholesterolemia; LDL-C, low density lipoprotein-cholesterol; LDLR, LDL receptor; NSTEMI, non–ST-segment elevation myocardial infarction; PCSK9, proprotein convertase subtilsin-kexin type 9; VUS, variants of uncertain significance; cascade screening; cholesterol; coronary artery disease; genetics; low-density lipoprotein cholesterol.

Publication types

Case Reports