Aims The availability of novel lipid-lowering therapies (LLTs) has remarkably changed the clinical management of homozygous familial hypercholesterolaemia (HoFH). The impact of these advances was evaluated in a cohort of 139 HoFH patients followed in a real-world clinical setting. Methods and results The clinical characteristics of 139 HoFH patients, along with information about LLTs and low-density lipoprotein cholesterol (LDL-C) levels at baseline and after a median follow-up of 5 years, were retrospectively retrieved from the records of patients enrolled in the LIPid transport disorders Italian GEnetic Network-Familial Hypercholesterolaemia (LIPIGEN-FH) Registry. The annual rates of major atherosclerotic cardiovascular events (MACE-plus) during follow-up were compared before and after baseline. Additionally, the lifelong survival free from MACE-plus was compared with that of the historical LIPIGEN HoFH cohort. At baseline, LDL-C level was 332 +/- 138 mg/dL. During follow-up, the potency of LLTs was enhanced and, at the last visit, 15.8% of patients were taking quadruple therapy. Consistently, LDL-C decreased to an average value of 124 mg/dL corresponding to a 58.3% reduction (P-t < 0.001), with the lowest value (similar to 90 mg/dL) reached in patients receiving proprotein convertase subtilisin/kexin type 9 inhibitors and lomitapide and/or evinacumab as add-on therapies. The average annual MACE-plus rate in the 5-year follow-up was significantly lower than that observed during the 5 years before baseline visit (21.7 vs. 56.5 per 1000 patients/year; P = 0.0016). Conclusion Our findings indicate that the combination of novel and conventional LLTs significantly improved LDL-C control with a signal of better cardiovascular prognosis in HoFH patients. Overall, these results advocate the use of intensive, multidrug LLTs to effectively manage HoFH.

Contemporary lipid-lowering management and risk of cardiovascular events in homozygous familial hypercholesterolaemia. insights from the Italian LIPIGEN registry / D'Erasmo, Laura; Bini, Simone; Casula, Manuela; Gazzotti, Marta; Bertolini, Stefano; Calandra, Sebastiano; Tarugi, Patrizia; Averna, Maurizio; Iannuzzo, Gabriella; Fortunato, Giuliana; Catapano, Alberico L; Arca, Marcello; DEL BEN, Maria. - In: EUROPEAN JOURNAL OF PREVENTIVE CARDIOLOGY. - ISSN 2047-4873. - 31:8(2024), pp. 1038-1047. [10.1093/eurjpc/zwae036]

Contemporary lipid-lowering management and risk of cardiovascular events in homozygous familial hypercholesterolaemia. insights from the Italian LIPIGEN registry

D'Erasmo, Laura
;
Bini, Simone;Arca Marcello;Del Ben Maria
2024

Abstract

Aims The availability of novel lipid-lowering therapies (LLTs) has remarkably changed the clinical management of homozygous familial hypercholesterolaemia (HoFH). The impact of these advances was evaluated in a cohort of 139 HoFH patients followed in a real-world clinical setting. Methods and results The clinical characteristics of 139 HoFH patients, along with information about LLTs and low-density lipoprotein cholesterol (LDL-C) levels at baseline and after a median follow-up of 5 years, were retrospectively retrieved from the records of patients enrolled in the LIPid transport disorders Italian GEnetic Network-Familial Hypercholesterolaemia (LIPIGEN-FH) Registry. The annual rates of major atherosclerotic cardiovascular events (MACE-plus) during follow-up were compared before and after baseline. Additionally, the lifelong survival free from MACE-plus was compared with that of the historical LIPIGEN HoFH cohort. At baseline, LDL-C level was 332 +/- 138 mg/dL. During follow-up, the potency of LLTs was enhanced and, at the last visit, 15.8% of patients were taking quadruple therapy. Consistently, LDL-C decreased to an average value of 124 mg/dL corresponding to a 58.3% reduction (P-t < 0.001), with the lowest value (similar to 90 mg/dL) reached in patients receiving proprotein convertase subtilisin/kexin type 9 inhibitors and lomitapide and/or evinacumab as add-on therapies. The average annual MACE-plus rate in the 5-year follow-up was significantly lower than that observed during the 5 years before baseline visit (21.7 vs. 56.5 per 1000 patients/year; P = 0.0016). Conclusion Our findings indicate that the combination of novel and conventional LLTs significantly improved LDL-C control with a signal of better cardiovascular prognosis in HoFH patients. Overall, these results advocate the use of intensive, multidrug LLTs to effectively manage HoFH.
2024
cardiovascular risk; evinacumab; homozygous familial hypercholesterolaemia; lipid-lowering therapies; lomitapide; PCSK9 inhibitors; real-world
01 Pubblicazione su rivista::01a Articolo in rivista
Contemporary lipid-lowering management and risk of cardiovascular events in homozygous familial hypercholesterolaemia. insights from the Italian LIPIGEN registry / D'Erasmo, Laura; Bini, Simone; Casula, Manuela; Gazzotti, Marta; Bertolini, Stefano; Calandra, Sebastiano; Tarugi, Patrizia; Averna, Maurizio; Iannuzzo, Gabriella; Fortunato, Giuliana; Catapano, Alberico L; Arca, Marcello; DEL BEN, Maria. - In: EUROPEAN JOURNAL OF PREVENTIVE CARDIOLOGY. - ISSN 2047-4873. - 31:8(2024), pp. 1038-1047. [10.1093/eurjpc/zwae036]
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11573/1706996
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