Published 2024
| Version v1
Publication
Contemporary lipid-lowering management and risk of cardiovascular events in homozygous familial hypercholesterolaemia: insights from the Italian LIPIGEN Registry
Creators
- 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.
Contributors
Others:
- 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.
Additional details
Identifiers
- URL
- https://hdl.handle.net/11567/1198075
- URN
- urn:oai:iris.unige.it:11567/1198075
Origin repository
- Origin repository
- UNIGE