Abstract
Background and aims: Familial hypercholesterolemia (FH) is an inherited disorder characterized by high levels of blood cholesterol from birth and premature coronary heart disease. Thus, the identification of FH patients is crucial to prevent or delay the onset of cardiovascular events, and the availability of a tool helping with the diagnosis in the setting of general medicine is essential to improve FH patient identification. Methods: This study evaluated the performance of the Dutch Lipid Clinic Network (DLCN) score in FH patients enrolled in the LIPIGEN study, an Italian integrated network aimed at improving the identification of patients with genetic dyslipidaemias, including FH. Results: The DLCN score was applied on a sample of 1377 adults (mean age 42.9 ± 14.2 years) with genetic diagnosis of FH, resulting in 28.5% of the sample classified as probable FH and 37.9% as classified definite FH. Among these subjects, 43.4% had at least one missing data out of 8, and about 10.0% had 4 missing data or more. When analyzed based on the type of missing data, a higher percentage of subjects with at least 1 missing data in the clinical history or physical examination was classified as possible FH (DLCN score 3–5). We also found that using real or estimated pre-treatment LDL-C levels may significantly modify the DLCN score. Conclusions: Although the DLCN score is a useful tool for physicians in the diagnosis of FH, it may be limited by the complexity to retrieve all the essential information, suggesting a crucial role of the clinical judgement in the identification of FH subjects.
| Original language | English |
|---|---|
| Pages (from-to) | 413-418 |
| Number of pages | 6 |
| Journal | Atherosclerosis |
| Volume | 277 |
| DOIs | |
| Publication status | Published - Oct 1 2018 |
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Keywords
- Dutch Lipid Clinic Network score
- Familial hypercholesterolemia
- Genetic testing
ASJC Scopus subject areas
- Cardiology and Cardiovascular Medicine
Cite this
Evaluation of the performance of Dutch Lipid Clinic Network score in an Italian FH population : The LIPIGEN study. / LIPIGEN Group.
In: Atherosclerosis, Vol. 277, 01.10.2018, p. 413-418.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Evaluation of the performance of Dutch Lipid Clinic Network score in an Italian FH population
T2 - The LIPIGEN study
AU - LIPIGEN Group
AU - Casula, Manuela
AU - Olmastroni, Elena
AU - Pirillo, Angela
AU - Catapano, Alberico Luigi
AU - Arca, Marcello
AU - Averna, Maurizio
AU - Bertolini, Stefano
AU - Calandra, Sebastiano
AU - Tarugi, Patrizia
AU - Pellegatta, Fabio
AU - Angelico, Francesco
AU - Bartuli, Andrea
AU - Biasucci, Giacomo
AU - Biolo, Gianni
AU - Bonanni, Luca
AU - Bonomo, Katia
AU - Borghi, Claudio
AU - Bossi, Antonio Carlo
AU - Branchi, Adriana
AU - Carubbi, Francesca
AU - Cipollone, Francesco
AU - Citroni, Nadia
AU - Federici, Massimo
AU - Ferri, Claudio
AU - Fiorenza, Anna Maria
AU - Giaccari, Andrea
AU - Giorgino, Francesco
AU - Guardamagna, Ornella
AU - Iannuzzi, Arcangelo
AU - Iughetti, Lorenzo
AU - Lupattelli, Graziana
AU - Lupi, Alessandro
AU - Mandraffino, Giuseppe
AU - Marcucci, Rossella
AU - Maroni, Lorenzo
AU - Miccoli, Roberto
AU - Mombelli, Giuliana
AU - Muntoni, Sandro
AU - Pecchioli, Valerio
AU - Pederiva, Cristina
AU - Pipolo, Antonio
AU - Sarzani, Riccardo
AU - Werba, Josè Pablo
AU - Buonuomo, Paola Sabrina
AU - Capra, Maria Elena
AU - Colombo, Emanuela
AU - Di Taranto, Maria Donata
AU - Gentile, Marco
AU - Grigore, Liliana
AU - Vigo, Lorenzo
PY - 2018/10/1
Y1 - 2018/10/1
N2 - Background and aims: Familial hypercholesterolemia (FH) is an inherited disorder characterized by high levels of blood cholesterol from birth and premature coronary heart disease. Thus, the identification of FH patients is crucial to prevent or delay the onset of cardiovascular events, and the availability of a tool helping with the diagnosis in the setting of general medicine is essential to improve FH patient identification. Methods: This study evaluated the performance of the Dutch Lipid Clinic Network (DLCN) score in FH patients enrolled in the LIPIGEN study, an Italian integrated network aimed at improving the identification of patients with genetic dyslipidaemias, including FH. Results: The DLCN score was applied on a sample of 1377 adults (mean age 42.9 ± 14.2 years) with genetic diagnosis of FH, resulting in 28.5% of the sample classified as probable FH and 37.9% as classified definite FH. Among these subjects, 43.4% had at least one missing data out of 8, and about 10.0% had 4 missing data or more. When analyzed based on the type of missing data, a higher percentage of subjects with at least 1 missing data in the clinical history or physical examination was classified as possible FH (DLCN score 3–5). We also found that using real or estimated pre-treatment LDL-C levels may significantly modify the DLCN score. Conclusions: Although the DLCN score is a useful tool for physicians in the diagnosis of FH, it may be limited by the complexity to retrieve all the essential information, suggesting a crucial role of the clinical judgement in the identification of FH subjects.
AB - Background and aims: Familial hypercholesterolemia (FH) is an inherited disorder characterized by high levels of blood cholesterol from birth and premature coronary heart disease. Thus, the identification of FH patients is crucial to prevent or delay the onset of cardiovascular events, and the availability of a tool helping with the diagnosis in the setting of general medicine is essential to improve FH patient identification. Methods: This study evaluated the performance of the Dutch Lipid Clinic Network (DLCN) score in FH patients enrolled in the LIPIGEN study, an Italian integrated network aimed at improving the identification of patients with genetic dyslipidaemias, including FH. Results: The DLCN score was applied on a sample of 1377 adults (mean age 42.9 ± 14.2 years) with genetic diagnosis of FH, resulting in 28.5% of the sample classified as probable FH and 37.9% as classified definite FH. Among these subjects, 43.4% had at least one missing data out of 8, and about 10.0% had 4 missing data or more. When analyzed based on the type of missing data, a higher percentage of subjects with at least 1 missing data in the clinical history or physical examination was classified as possible FH (DLCN score 3–5). We also found that using real or estimated pre-treatment LDL-C levels may significantly modify the DLCN score. Conclusions: Although the DLCN score is a useful tool for physicians in the diagnosis of FH, it may be limited by the complexity to retrieve all the essential information, suggesting a crucial role of the clinical judgement in the identification of FH subjects.
KW - Dutch Lipid Clinic Network score
KW - Familial hypercholesterolemia
KW - Genetic testing
UR - http://www.scopus.com/inward/record.url?scp=85053847614&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=85053847614&partnerID=8YFLogxK
U2 - 10.1016/j.atherosclerosis.2018.08.013
DO - 10.1016/j.atherosclerosis.2018.08.013
M3 - Article
AN - SCOPUS:85053847614
VL - 277
SP - 413
EP - 418
JO - Atherosclerosis
JF - Atherosclerosis
SN - 0021-9150
ER -