Homozygous familial hypercholesterolemia in a young woman with dual gene mutations of low-density lipoprotein receptor and proprotein convertase subtilisin/kexin type 9

Suppressa, Patrizia; Carbonara, Concetta; Scialpi, Natasha; Ciavarella, Alessandro; Sabbá, Carlo

doi:10.1016/j.jacl.2020.01.009

Cited by 1 publication

(7 citation statements)

References 18 publications

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“…1 while baseline characteristics of patients are presented in Table 1 (Ref. [19,21,[24][25][26][27][28][29][30][31][32][33][34][35][36][37][38][39]).…”

Section: Resultsmentioning

confidence: 99%

“…Studies (2 single-arm studies, 2 retrospective case series and 14 case reports) reporting on the changes in lipid levels after lomitapide treatment were selected for analysis. Fifteen studies involving 106 patients reported on adult HoFH [ 19 , 21 , 24 , 25 , 26 , 27 , 28 , 29 , 30 , 31 , 32 , 33 , 34 , 35 , 36 ]. Moreover, 4 studies involved children (14) as study participants [ 33 , 37 , 38 , 39 ].…”

Section: Resultsmentioning

confidence: 99%

“…1 while baseline characteristics of patients are presented in Table 1 (Ref. [ 19 , 21 , 24 , 25 , 26 , 27 , 28 , 29 , 30 , 31 , 32 , 33 , 34 , 35 , 36 , 37 , 38 , 39 ]).…”

Section: Resultsmentioning

confidence: 99%

“…CVD complications, lomitapiderelated adverse events (AEs) were evaluated as safety outcomes (Table 4, Ref. [19,21,[24][25][26][27][28][29][30][31][32][33][34][35][36][37][38][39]).…”

Section: Efficacy and Safety Outcomesmentioning

confidence: 99%

“…However, the two patients did not show severe lomitapide-associated side ef-fects. Suppressa et al [36] reported a case of a 28-year-old female HoFH patient who had been diagnosed with xanthoma at age 2. The patient rejected LA therapy, therefore, LLT treatment was initiated using statins, ezetimibe and evolocumab, however, this therapy did not significantly decrease LDL-C levels.…”

Section: Fig 3 Overall Quality Assessment Of Case Series According To...mentioning

confidence: 99%

See 4 more Smart Citations

Efficacy and Safety of Lomitapide in Homozygous Familial Hypercholesterolaemia: A Systematic Review

Wei¹,

Hu²,

Li³

et al. 2022

Rev. Cardiovasc. Med.

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Background: Homozygous familial hypercholesterolaemia (HoFH) patients have little or no low-density lipoprotein receptor (LDLR) function. HMG-CoA (3-hydroxy-3-methyl glutaryl coenzyme A) reductase inhibitors (statins) and proprotein convertase subtilisin/kexin type 9 (PCSK9) inhibitors have limited lipid-lowering effects, therefore, there is an urgent need to develop new HoFH treatments. In 2012, the US Food and Drug Administration (FDA) approved the administration of lomitapide for lowering low-density lipoprotein cholesterol (LDL-C) levels. However, lomitapide is associated with various gastrointestinal disorders, elevated hepatic alanine aminotransferase (ALT) levels and other adverse reactions, thus, its long-term efficacy and safety in pediatrics and adults should be evaluated. A systematic review conducted in 2017 reported the efficacy and safety of lomitapide in Family hypercholesterolaemia (FH) patients. In this systematic review, we elucidate on the efficacy and safety of lomitapide in HoFH patients. Methods: A search was conducted in PubMed, Embase, Web of Science and Cochrane library databases to identify valid studies involving lomitapide-treated HoFH patients published before 11th August 2021. Results: A total of 18 clinical studies involving 120 lomitapide-treated HoFH patients were identified. Lomitapide significantly suppressed LDL-C levels in HoFH patients. Clinical manifestations for lomitapide in children were comparable to those in adults. The most common adverse events were gastrointestinal disturbances and elevated ALT levels. However, most patients tolerated the treatment-associated adverse reactions. Low-fat diets and drug dose adjustments were appropriate measures for controlling the treatment-associated adverse reactions. Conclusions: In pediatric and adult HoFH patients, lomitapide significantly suppresses LDL-C levels, therefore, it is an important option for HoFH treatment. The most common adverse events of lomitapide treatment include gastrointestinal disorders and elevated hepatic ALT levels. Despite the limitations, lomitapide is feasible for long-term treatment of HoFH patients, with dietary and safety monitoring. Registration Number in PROSPERO: CRD42021284425.

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“…1 while baseline characteristics of patients are presented in Table 1 (Ref. [19,21,[24][25][26][27][28][29][30][31][32][33][34][35][36][37][38][39]).…”

Section: Resultsmentioning

confidence: 99%

Section: Resultsmentioning

confidence: 99%

“…1 while baseline characteristics of patients are presented in Table 1 (Ref. [ 19 , 21 , 24 , 25 , 26 , 27 , 28 , 29 , 30 , 31 , 32 , 33 , 34 , 35 , 36 , 37 , 38 , 39 ]).…”

Section: Resultsmentioning

confidence: 99%

“…CVD complications, lomitapiderelated adverse events (AEs) were evaluated as safety outcomes (Table 4, Ref. [19,21,[24][25][26][27][28][29][30][31][32][33][34][35][36][37][38][39]).…”

Section: Efficacy and Safety Outcomesmentioning

confidence: 99%

Section: Fig 3 Overall Quality Assessment Of Case Series According To...mentioning

confidence: 99%

See 3 more Smart Citations

Efficacy and Safety of Lomitapide in Homozygous Familial Hypercholesterolaemia: A Systematic Review

Wei¹,

Hu²,

Li³

et al. 2022

Rev. Cardiovasc. Med.

View full text Add to dashboard Cite

show abstract

Homozygous familial hypercholesterolemia in a young woman with dual gene mutations of low-density lipoprotein receptor and proprotein convertase subtilisin/kexin type 9

Cited by 1 publication

References 18 publications

Efficacy and Safety of Lomitapide in Homozygous Familial Hypercholesterolaemia: A Systematic Review

Efficacy and Safety of Lomitapide in Homozygous Familial Hypercholesterolaemia: A Systematic Review

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