Durable Lipid-Lowering Beyond 10 Years with Lomitapide in Homozygous Familial Hypercholesterolemia: A Real-World Experience in Taiwan

Background Homozygous familial hypercholesterolemia (HoFH) is a rare, life-threatening disorder characterized by extremely elevated low-density lipoprotein cholesterol (LDL-C) and premature atherosclerotic cardiovascular disease (ASCVD). Objective This study aimed to report real-world outcomes of lomitapide, an LDL receptor-independent microsomal triglyceride transfer protein inhibitor, with follow-up beyond 10 years in an underreported East Asian population. Methods This retrospective study at a tertiary center in Taiwan included genetically confirmed HoFH patients treated with lomitapide since 2013. Clinical characteristics, longitudinal lipid profiles, hepatic transaminases, liver magnetic resonance imaging for hepatic steatosis, carotid ultrasonography for intima-media thickness, and ASCVD events were reviewed through December 2025. Results Six patients with HoFH (mean age, 28.7±18.2 years) were analyzed. After lomitapide initiation, one patient discontinued lomitapide early because of elevated hepatic transaminase. Four patients received lomitapide treatment for more than 10 years (mean follow-up, 140.8±2.9 months). In this long-term cohort, LDL-C decreased from 264.0±97.3 mg/dL at baseline to 141.5±136.9 mg/dL at the last measurement (mean reduction, 55.8±27.3%) and to 54.0±28.6 mg/dL at nadir (maximal reduction, 80.0±6.1%). Three patients (75%) achieved LDL-C <55 mg/dL at nadir. Hepatic transaminase elevations were generally transient without the need of intervention. Imaging assessment demonstrated variable hepatic steatosis and carotid atherosclerosis. No ASCVD events occurred during continued therapy, and no congenital abnormalities were reported following in utero lomitapide exposure. Conclusions Lomitapide provides durable LDL-C reduction beyond a decade with a manageable safety profile, supporting its long-term therapeutic role in East Asian HoFH patients.