Discontinuation of LDL apheresis with evolocumab in an FH patient with a duplication of exon 2-6 in the LDLR gene.

We report here a familial hypercholesterolemia (FH) patient with a rare mutation, exon 2-6 duplication in the low-density lipoprotein (LDL) receptor gene, who had received LDL apheresis with drug treatment for 15 years. We added evolocumab (proprotein convertase subtilisin/kexin type 9 inhibitor) 140 mg bi-weekly to the treatment, and checked lipid profiles [LDL cholesterol, lipoprotein(a), malondialdehyde-modified LDL, etc.] for 34 weeks. Evolocumab enabled the patient to discontinue LDL apheresis and decrease the dose of statin. We demonstrate that evolocumab contributed to the management of atherogenic lipoproteins in an FH patient with exon 2-6 duplication as an alternative to LDL apheresis. <Learning objective: LDL apheresis has been the last therapeutic tool for FH patients, however, the treatment is invasive and time consuming. FH patients show various clinical presentations and different responses to medication depending on their genetic mutations. In this severe heterozygous FH patient which seemed to be homozygous FH, we explored various lipid profiles and assessed the treatment when altering the treatment from LDL apheresis to evolocumab, moreover decreasing the dose of statin.>.