Novel Presentation of Homozygous Familial Hypercholesterolemia With Homozygous Variants in Both LDLR and APOB Genes
oleh: 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
| Format: | Article |
|---|---|
| Diterbitkan: | Elsevier 2019-10-01 |
Deskripsi
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.)