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

D’Erasmo, Laura; Cefalù, Angelo Baldassare; Noto, Davide; Giammanco, Antonina; Averna, Maurizio; Pintus, Paolo; Medde, Paolo; Vigna, Giovanni Battista; Sirtori, Cesare R.; Calabresi, Laura; Pavanello, Chiara; Bucci, Marco; Sabbá, Carlo; Suppressa, Patrizia; Natale, Francesco; Calabrò, Paolo; Sampietro, Tiziana; Bigazzi, Federico; Sbrana, Francesco; Bonomo, Katia; Sileo, Fulvio; Arca, Marcello

doi:10.1007/s12325-017-0531-x

Cited by 65 publications

(70 citation statements)

References 30 publications

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“…Recently, there has been growing interest about genetic/clinical heterogeneity in relation to the therapeutic response of patients with HoFH [6][7][8][9][10][11]. In order to better characterize the features of HoFH, we collected and retrospectively analyzed the genetic, biochemical, and clinical data of about 23 HoFH patients who attended our lipid clinic over the last 10 years.…”

Section: Introductionmentioning

confidence: 99%

A Real-World Experience of Clinical, Biochemical and Genetic Assessment of Patients with Homozygous Familial Hypercholesterolemia

Taranto

Giacobbe

Buonaiuto

et al. 2020

JCM

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Homozygous familial hypercholesterolemia (HoFH), the severest form of familial hypercholesterolemia (FH), is characterized by very high LDL-cholesterol levels and a high frequency of coronary heart disease. The disease is caused by the presence of either a pathogenic variant at homozygous status or of two pathogenic variants at compound heterozygous status in the LDLR, APOB, PCSK9 genes. We retrospectively analyzed data of 23 HoFH patients (four children and 19 adults) identified during the genetic screening of 724 FH patients. Genetic screening was performed by sequencing FH causative genes and identifying large rearrangements of LDLR. Among the HoFH patients, four out of 23 (17.4%) were true homozygotes, whereas 19 out of 23 (82.6%) were compound heterozygotes for variants in the LDLR gene. Basal LDL-cholesterol was 12.9 ± 2.9 mmol/L. LDL-cholesterol levels decreased to 7.2 ± 1.8 mmol/L when treated with statin/ezetimibe and to 5.1 ± 3.1 mmol/L with anti-PCSK9 antibodies. Homozygous patients showed higher basal LDL-cholesterol and a poorer response to therapy compared with compound heterozygotes. Since 19 unrelated patients were identified in the Campania region (6,000,000 inhabitants) in southern Italy, the regional prevalence of HoFH was estimated to be at least 1:320,000. In conclusion, our results revealed a worse phenotype for homozygotes compared with compound heterozygotes, thereby highlighting the role of genetic screening in differentiating one genetic status from the other.

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Section: Introductionmentioning

confidence: 99%

A Real-World Experience of Clinical, Biochemical and Genetic Assessment of Patients with Homozygous Familial Hypercholesterolemia

Taranto

Giacobbe

Buonaiuto

et al. 2020

JCM

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“…These data are in keeping with other recent evidences on the efficacy of lomitapide, but associated with disturbing side effects, that lead to drug discontinuation. 8 Thus, this drug can be considered in HoFH patients who are refractory to statins, ezetimibe and PCKS9 treatment (e.g. individuals who are homozygous because of null LDLR mutations).…”

Section: Lomitapide In Patients With Homozygous Familial Hypercholestmentioning

confidence: 99%

Editor’s Presentation: ‘Preventive Cardiology: Quo vadis?’

Piepoli

2020

Eur J Prev Cardiolog

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“…During followup, 53.3% of patients reported at least one episode of diarrhea, but none was referred as severe; none had liver transaminase >5 Â ULN or had to stop treatment due to side effects. 8 Cuchel et al reported the results of single-arm, open-label, phase 3 study of lomitapide for treatment of 29 patients with HoFH. LDL-C level was reduced by 50% from baseline (mean 8.7 mmol/L to week 26 (4.3 mmol/L; p < 0.0001) with lomitapide from 5 mg to a maximum of 60 mg a day.…”

Section: And Sang Hong Baekmentioning

confidence: 99%

“…No patient permanently discontinued treatment because of liver abnormalities. 8 Roeters van Lennep et al reported clinically meaningful reductions in LDL-C levels by 35-73% through lomitapide treatment in patients with HoFH. 9 Lomitapide can be used in HoFH patients who are refractory to statins, ezetimibe and PCKS9 treatment (e.g.…”

Section: And Sang Hong Baekmentioning

confidence: 99%

Lomitapide, relief pitcher for patients with homozygous familial hypercholesterolemia

Kim

Baek

2019

Eur J Prev Cardiolog

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

Cited by 65 publications

References 30 publications

A Real-World Experience of Clinical, Biochemical and Genetic Assessment of Patients with Homozygous Familial Hypercholesterolemia

A Real-World Experience of Clinical, Biochemical and Genetic Assessment of Patients with Homozygous Familial Hypercholesterolemia

Editor’s Presentation: ‘Preventive Cardiology: Quo vadis?’

Lomitapide, relief pitcher for patients with homozygous familial hypercholesterolemia

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