| Contributors: |
D'Erasmo, L.; Bini, S.; Casula, M.; Gazzotti, M.; Bertolini, S.; Calandra, S.; Tarugi, P.; Averna, M.; Iannuzzo, G.; Fortunato, G.; Catapano, A. L.; Arca, M.; Allevi, M.; Auricchio, R.; Banderali, G.; Baratta, F.; Bartuli, A.; Bianconi, V.; Bonomo, K.; Brambilla, M.; Branchi, A.; Bruzzi, P.; Bucci, M.; Buonuomo, P. S.; Calabro, P.; Carubbi, F.; Cavalot, F.; Cipollone, F.; D'Addato, S.; Dal Pino, B.; Del Ben, M.; Di Costanzo, A.; Di Taranto, M. D.; Fasano, T.; Ferri, C.; Fimiani, F.; Fogacci, F.; Formisano, E.; Galimberti, F.; Giammanco, A.; Grigore, L.; Iughetti, L.; Mandraffino, G.; Mombelli, G.; Montalcini, T.; Muntoni, S.; Nascimbeni, F.; Negri, E. A.; Notargiacomo, S.; Noto, D.; Passaro, A.; Pavanello, C.; Pecchioli, V.; Pecchioli, L.; Pederiva, C.; Pellegatta, F.; Piras, C.; Piro, S.; Pirro, M.; Pisciotta, L.; Pujia, A.; Rinaldi, E.; Rizzi, L.; Sanz, J. M.; Sarzani, R.; Sbrana, F.; Scicali, R.; Suppressa, P.; Toscano, A.; Tramontano, D.; Vigna, G. B.; Werba, J. P.; Zambon, S.; Zambon, A.; Zenti, M. G. |
| Description: |
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 (Pt < 0.001), with the lowest value (∼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. |