6533b82bfe1ef96bd128e39c

RESEARCH PRODUCT

Efficacy of Lomitapide in the Treatment of Familial Homozygous Hypercholesterolemia: Results of a Real-World Clinical Experience in Italy

Marco BucciTiziana SampietroMaurizio AvernaFulvio SileoPaolo PintusAntonina GiammancoPatrizia SuppressaFrancesco NataleDavide NotoCesare SirtoriCarlo SabbàPaolo MeddePaolo CalabròGiovanni Battista VignaLaura CalabresiAngelo B. CefalùLaura D'erasmoFrancesco SbranaMarcello ArcaKatia BonomoFederico BigazziChiara Pavanello

subject

MaleSettore MED/09 - Medicina InternaHyperlipidemia Familial Combined030204 cardiovascular system & hematologyPharmacologyBenzimidazolecholesterol-lowering effect; clinical practice; genetics; lomitapide; severe hypercholesterolemia; medicine (all); pharmacology (medical)cholesterol-lowering effectchemistry.chemical_compound0302 clinical medicineRetrospective StudieAnticholesteremic Agentgenetics030212 general & internal medicineAged 80 and overAnticholesteremic AgentsHomozygoteGeneral MedicineMiddle Agedclinical practiceSafety profileItalylipids (amino acids peptides and proteins)FemaleHumanAdultmedicine.medical_specialtySocio-culturaleLiver ultrasoundLDLRAP1 geneHyperlipoproteinemia Type II03 medical and health sciencesGeneticInternal medicinemedicineHumansLiver damagemedicine (all)Familial homozygous hypercholesterolemiaAgedRetrospective Studieslomitapidebusiness.industrysevere hypercholesterolemiamedicine.diseaseRheumatologyLomitapidepharmacology (medical)chemistryBenzimidazolesbusinessDyslipidemia

description

Homozygous familial hypercholesterolaemia (HoFH) is a rare form of inherited dyslipidemia resistant to conventional cholesterol-lowering medications so that lipoprotein apheresis (LA) is usually required. Lomitapide has been approved for the treatment of HoFH. The aim of this study was to evaluate the benefits of lomitapide in HoFH patients followed with the usual clinical care. Homozygous familial hypercholesterolaemia (HoFH) is a rare form of inherited dyslipidemia resistant to conventional cholesterol-lowering medications so that lipoprotein apheresis (LA) is usually required. Lomitapide has been approved for the treatment of HoFH. The aim of this study was to evaluate the benefits of lomitapide in HoFH patients followed with the usual clinical care.Clinical and biochemical data were retrospectively collected in 15 HoFH patients (10 with mutations in the LDLR gene and 5 in the LDLRAP1 gene) treated for at least 6 months with lomitapide in addition to lipid-lowering therapies (LLT) in different Lipid Clinics across Italy.The mean follow-up period was 32.3 +/- 29.7 months. During background therapies, HoFH patients showed a mean LDL-C level of 426.0 +/- 204.0 mg/dl. The addition of lomitapide at the average dosage of 19 mg/day lowered LDL-C levels by 68.2 +/- 24.8%. At their last visit, 60% of patients showed LDL-C 5x ULN or had to stop treatment due to side effects. A subset of patients was evaluated by liver ultrasound and fibroscan (n = 5) or nuclear magnetic resonance with spectroscopy (MRS) (n = 1) not showing clinical evidence of liver damage.In this real-world experience, lomitapide was confirmed to be a very powerful cholesterol-lowering agent in HoFH showing a good safety profile.

yearjournalcountryeditionlanguage
2017-01-01
10.1007/s12325-017-0531-xhttp://hdl.handle.net/11573/952625