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

LDLR和APOB基因均携带纯合变异的纯合子家族性高胆固醇血症的新表现

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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.).

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