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

Autor: Robert Derenbecker, MD, Karan Kapoor, MD, Emily Brown, MGC, CGC, Thorsten Leucker, MD, PhD, Steven R. Jones, MD, Parvez M. Lokhandwala, MD, PhD, Kathleen H. Byrne, CRNP, Seth S. Martin, MD, MHS
Jazyk: angličtina
Rok vydání: 2019
Předmět:
Zdroj: JACC: Case Reports, Vol 1, Iss 3, Pp 346-349 (2019)
Druh dokumentu: article
ISSN: 2666-0849
DOI: 10.1016/j.jaccas.2019.07.023
Popis: 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.)
Databáze: Directory of Open Access Journals