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J Clin Lipidol. 2017 Jan - Feb;11(1):301-305. doi: 10.1016/j.jacl.2017.01.004. Epub 2017 Jan 12.

Low-density lipoprotein receptor-negative compound heterozygous familial hypercholesterolemia: Two lifetime journeys of lipid-lowering therapy.

Author information

1
Department of Internal Medicine, Section Pharmacology, Vascular and Metabolic Diseases, Erasmus University Medical Center, Rotterdam, The Netherlands.
2
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.
3
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.
4
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.

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.

KEYWORDS:

Homozygous familial hypercholesterolemia; Lipid lowering; Lomitapide; Mipomersen; Treatment

PMID:
28391901
DOI:
10.1016/j.jacl.2017.01.004
[Indexed for MEDLINE]

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