Background and aims Primary dyslipidemias are a heterogeneous group of disorders characterized by abnormal levels of circulating lipoproteins. Among them, familial hypercholesterolemia is the most common lipid disorder that predisposes for premature cardiovascular disease. We set up an Italian nationwide network aimed at facilitating the clinical and genetic diagnosis of genetic dyslipidemias named LIPIGEN (LIpid TransPort Disorders Italian GEnetic Network). Methods Observational, multicenter, retrospective and prospective study involving about 40 Italian clinical centers. Genetic testing of the appropriate candidate genes at one of six molecular diagnostic laboratories serving as nationwide DNA diagnostic centers. Results and conclusions From 2012 to October 2016, available biochemical and clinical information of 3480 subjects with familial hypercholesterolemia identified according to the Dutch Lipid Clinic Network (DLCN) score were included in the database and genetic analysis was performed in 97.8% of subjects, with a mutation detection rate of 92.0% in patients with DLCN score ≥6. The establishment of the LIPIGEN network will have important effects on clinical management and it will improve the overall identification and treatment of primary dyslipidemias in Italy.

Averna, M., Cefalù, A. B., Casula, M., Noto, D., Arca, M., Bertolini, S., Calandra, S., Catapano, A. L., Tarugi, P., Arca, M., Averna, M., Bertolini, S., Calandra, S., Catapano, A. L., Pellegatta, F., Angelico, F., Arca, M., Averna, M., Bartuli, A., Biasucci, G., Biolo, G., Bonanni, L., Bonomo, K., Borghi, C., Bossi, A. C., Branchi, A., Carubbi, F., Cipollone, F., Citroni, N., Federici, M., Ferri, C., Fiorenza, A. M., Giaccari, A., Giorgino, F., Guardamagna, O., Iannuzzi, A., Iughetti, L., Lupattelli, G., Mandraffino, G., Marcucci, R., Mombelli, G., Muntoni, S., Pecchioli, V., Pederiva, C., Pipolo, A., Pisciotta, L., Pujia, A., Purrello, F., Repetti, E., Rubba, P., Sabbà, C., Sampietro, T., Sarzani, R., Tagliabue, M. P., Trenti, C., Vigna, G. B., Werba, J. P., Zambon, S., Zenti, M. G., Montali, A., Noto, D., Bertolini, S., Calandra, S., Fortunato, G., Grigore, L., Del Ben, M., Maranghi, M., Cefalù, A. B., Barbagallo, C. M., Buonuomo, P. S., Capra, M. E., Vinci, P., D'addato, S., Galbiati, S., Nascimbeni, F., Bucci, M., Spagnoli, W., Cardolini, I., Cervelli, N., Emanuela, C., Vinsin, A. S., Laviola, L., Bello, F., Chiariello, G., Predieri, B., Siepi, D., Saitta, A., Giusti, B., Pavanello, C., Lussu, M., Prati, L., Banderali, G., Balleari, G., Montalcini, T., Scicali, R., Gentile, L., Gentile, M., Suppressa, P., Sbrana, F., Cocci, G., Benso, A., Negri, E. A., Ghirardello, O., Lorenzo, V., Zambon, A., Enzo, B., Minicocci, I., Spina, R., Orlando, C., Di Taranto, M. D., Catapano, A. L., Casula, M., Chiodo, L., Garlaschelli, K., Manzato, E., Tragni, E., Familial hypercholesterolemia: The Italian Atherosclerosis Society Network (LIPIGEN), <<ATHEROSCLEROSIS SUPPLEMENTS>>, 2017; 29 (29): 11-16. [doi:10.1016/j.atherosclerosissup.2017.07.001] [http://hdl.handle.net/10807/111703]

Familial hypercholesterolemia: The Italian Atherosclerosis Society Network (LIPIGEN)

Giaccari, Andrea;Buonuomo, Paola Sabrina;
2017

Abstract

Background and aims Primary dyslipidemias are a heterogeneous group of disorders characterized by abnormal levels of circulating lipoproteins. Among them, familial hypercholesterolemia is the most common lipid disorder that predisposes for premature cardiovascular disease. We set up an Italian nationwide network aimed at facilitating the clinical and genetic diagnosis of genetic dyslipidemias named LIPIGEN (LIpid TransPort Disorders Italian GEnetic Network). Methods Observational, multicenter, retrospective and prospective study involving about 40 Italian clinical centers. Genetic testing of the appropriate candidate genes at one of six molecular diagnostic laboratories serving as nationwide DNA diagnostic centers. Results and conclusions From 2012 to October 2016, available biochemical and clinical information of 3480 subjects with familial hypercholesterolemia identified according to the Dutch Lipid Clinic Network (DLCN) score were included in the database and genetic analysis was performed in 97.8% of subjects, with a mutation detection rate of 92.0% in patients with DLCN score ≥6. The establishment of the LIPIGEN network will have important effects on clinical management and it will improve the overall identification and treatment of primary dyslipidemias in Italy.
Inglese
Averna, M., Cefalù, A. B., Casula, M., Noto, D., Arca, M., Bertolini, S., Calandra, S., Catapano, A. L., Tarugi, P., Arca, M., Averna, M., Bertolini, S., Calandra, S., Catapano, A. L., Pellegatta, F., Angelico, F., Arca, M., Averna, M., Bartuli, A., Biasucci, G., Biolo, G., Bonanni, L., Bonomo, K., Borghi, C., Bossi, A. C., Branchi, A., Carubbi, F., Cipollone, F., Citroni, N., Federici, M., Ferri, C., Fiorenza, A. M., Giaccari, A., Giorgino, F., Guardamagna, O., Iannuzzi, A., Iughetti, L., Lupattelli, G., Mandraffino, G., Marcucci, R., Mombelli, G., Muntoni, S., Pecchioli, V., Pederiva, C., Pipolo, A., Pisciotta, L., Pujia, A., Purrello, F., Repetti, E., Rubba, P., Sabbà, C., Sampietro, T., Sarzani, R., Tagliabue, M. P., Trenti, C., Vigna, G. B., Werba, J. P., Zambon, S., Zenti, M. G., Montali, A., Noto, D., Bertolini, S., Calandra, S., Fortunato, G., Grigore, L., Del Ben, M., Maranghi, M., Cefalù, A. B., Barbagallo, C. M., Buonuomo, P. S., Capra, M. E., Vinci, P., D'addato, S., Galbiati, S., Nascimbeni, F., Bucci, M., Spagnoli, W., Cardolini, I., Cervelli, N., Emanuela, C., Vinsin, A. S., Laviola, L., Bello, F., Chiariello, G., Predieri, B., Siepi, D., Saitta, A., Giusti, B., Pavanello, C., Lussu, M., Prati, L., Banderali, G., Balleari, G., Montalcini, T., Scicali, R., Gentile, L., Gentile, M., Suppressa, P., Sbrana, F., Cocci, G., Benso, A., Negri, E. A., Ghirardello, O., Lorenzo, V., Zambon, A., Enzo, B., Minicocci, I., Spina, R., Orlando, C., Di Taranto, M. D., Catapano, A. L., Casula, M., Chiodo, L., Garlaschelli, K., Manzato, E., Tragni, E., Familial hypercholesterolemia: The Italian Atherosclerosis Society Network (LIPIGEN), <<ATHEROSCLEROSIS SUPPLEMENTS>>, 2017; 29 (29): 11-16. [doi:10.1016/j.atherosclerosissup.2017.07.001] [http://hdl.handle.net/10807/111703]
File in questo prodotto:
File Dimensione Formato  
1-s2.0-S1567568817300909-main.pdf

accesso aperto

Tipologia file ?: Versione Editoriale (PDF)
Licenza: Creative commons
Dimensione 752.37 kB
Formato Adobe PDF
752.37 kB Adobe PDF Visualizza/Apri

I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.

Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/10807/111703
Citazioni
  • ???jsp.display-item.citation.pmc??? 15
  • Scopus 43
  • ???jsp.display-item.citation.isi??? 38
social impact