Background and aims: Familial hypercholesterolemia (FH) is an inherited disorder characterized by high levels ofblood cholesterol from birth and premature coronary heart disease. Thus, the identification of FH patients iscrucial to prevent or delay the onset of cardiovascular events, and the availability of a tool helping with thediagnosis 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 patientsenrolled in the LIPIGEN study, an Italian integrated network aimed at improving the identification of patientswith genetic dyslipidaemias, including FH.Results: The DLCN score was applied on a sample of 1377 adults (mean age 42.9 ± 14.2 years) with geneticdiagnosis 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 ormore. When analyzed based on the type of missing data, a higher percentage of subjects with at least 1 missingdata in the clinical history or physical examination was classified as possible FH (DLCN score 3–5). We alsofound 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 bythe complexity to retrieve all the essential information, suggesting a crucial role of the clinical judgement in theidentification of FH subjects.
Evaluation of the performance of Dutch Lipid Clinic Network score in an Italian FH population: The LIPIGEN study.
Pujia A;
2018-01-01
Abstract
Background and aims: Familial hypercholesterolemia (FH) is an inherited disorder characterized by high levels ofblood cholesterol from birth and premature coronary heart disease. Thus, the identification of FH patients iscrucial to prevent or delay the onset of cardiovascular events, and the availability of a tool helping with thediagnosis 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 patientsenrolled in the LIPIGEN study, an Italian integrated network aimed at improving the identification of patientswith genetic dyslipidaemias, including FH.Results: The DLCN score was applied on a sample of 1377 adults (mean age 42.9 ± 14.2 years) with geneticdiagnosis 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 ormore. When analyzed based on the type of missing data, a higher percentage of subjects with at least 1 missingdata in the clinical history or physical examination was classified as possible FH (DLCN score 3–5). We alsofound 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 bythe complexity to retrieve all the essential information, suggesting a crucial role of the clinical judgement in theidentification of FH subjects.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.