title: Low-density lipoprotein receptor-negative compound heterozygous familial hypercholesterolemia: Two lifetime journeys of lipid-lowering therapy.
abstract: We present the case history of 2 patients with low-density lipoprotein receptor-negative compound heterozygous familial hypercholesterolemia who did not receive lipoprotein apheresis. We describe the subsequent effect of all lipid-lowering medications during their life course including resins, statins, ezetimibe, nicotinic acid/laropiprant, mipomersen, and lomitapide. These cases tell the story of siblings affected with this rare disease, who are free of symptoms but still are at a very high cardiovascular disease risk, and their treatment from childhood.
authors.affiliation: Department of Internal Medicine, Section Pharmacology, Vascular and Metabolic Diseases, Erasmus University Medical Center, Rotterdam, The Netherlands.
authors.forename: Reyhana
authors.initials: R
authors.lastname: Yahya
authors.affiliation: Department of Internal Medicine, Section Pharmacology, Vascular and Metabolic Diseases, Erasmus University Medical Center, Rotterdam, The Netherlands.
authors.forename: Monique T
authors.initials: MT
authors.lastname: Mulder
authors.affiliation: Department of Internal Medicine, Section Pharmacology, Vascular and Metabolic Diseases, Erasmus University Medical Center, Rotterdam, The Netherlands; Expert Centre for Rare Lipid Disorders, Erasmus MC, Rotterdam, The Netherlands.
authors.forename: Eric J G
authors.initials: EJ
authors.lastname: Sijbrands
authors.affiliation: Center for Lysosomal and Metabolic Disorders, Department of Pediatrics, Sophia Children's Hospital EMC, Rotterdam, The Netherlands; Expert Centre for Rare Lipid Disorders, Erasmus MC, Rotterdam, The Netherlands.
authors.forename: Monique
authors.initials: M
authors.lastname: Williams
authors.affiliation: Department of Internal Medicine, Section Pharmacology, Vascular and Metabolic Diseases, Erasmus University Medical Center, Rotterdam, The Netherlands; Expert Centre for Rare Lipid Disorders, Erasmus MC, Rotterdam, The Netherlands. Electronic address: j.roetersvanlennep@erasmusmc.nl.
authors.forename: Jeanine E
authors.initials: JE
authors.lastname: Roeters van Lennep
mesh_terms: D000328:Adult; D005260:Female; D006579:Heterozygote; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000188:drug therapy* / Q000235:genetics* / Q000378:metabolism; D000960:Hypolipidemic Agents / Q000494:pharmacology* / Q000627:therapeutic use; D008297:Male; D011973:Receptors, LDL / Q000378:metabolism; D055815:Young Adult
chemical_list: D000960:Hypolipidemic Agents; D011973:Receptors, LDL
keywords: Homozygous familial hypercholesterolemia; Lipid lowering; Lomitapide; Mipomersen; Treatment