Management of homozygous familial hypercholesterolemia in real-world clinical practice: A report of 7 Italian patients treated in Rome with lomitapide and lipoprotein apheresis

Abstract

Background: Homozygous familial hypercholesterolemia (HoFH) is a rare, genetically determined condition of highly elevated low-density lipoprotein cholesterol (LDLC) levels. If untreated, patients do not typically survive beyond the second decade of life. Traditional lipid-lowering therapies (statins and ezetimibe) are largely ineffective in HoFH patients, and extracorporeal lipoprotein apheresis (LA) forms the mainstay of treatment. Lomitapide is a microsomal triglyceride transfer protein inhibitor approved for the treatment of HoFH as an adjunct to LA. We undertook to examine the efficacy and safety of lomitapide in 7 HoFH patients treated with LA in the Lipid Clinic and Therapeutic Apheresis Unit in Rome, Italy outside a clinical trial setting.

Methods: Seven patients with genetically determined HoFH were treated with lomitapide in the normal course of their therapy. All patients received LA either weekly or biweekly. Lomitapide was administered according to the approved European Union prescribing information. LDLC levels, liver enzymes, and hepatic fat were monitored. Length of follow-up varied between 12 and 50 weeks.

Results: After titration, lomitapide doses ranged from 10 to 30 mg/d for most (5/7) patients. One patient received lomitapide 60 mg/d and another 5 mg/d. Three patients achieved LDLC reductions of >50%. The patient on the lowest lomitapide dose did not gain significant benefit. Gastrointestinal adverse events (AEs) were managed via alterations to dietary fat intake.

Conclusion: Lomitapide is an effective adjunct to LA in patients with HoFH. AEs are manageable; gastrointestinal AEs can be managed with a low-fat eating plan.

Keywords: Aortic valve disease; Ezetimibe; Homozygous familial hypercholesterolemia; Italy; Lipoprotein apheresis; Lomitapide; Statins.