Evaluation of the performance of Dutch Lipid Clinic Network score in an Italian FH population: The LIPIGEN study

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.

Evaluation of Cardiovascular Risk Factors in Patients With Familial Hypercholesterolemia From the North-eastern Area of Romania

“…The laboratory tests acknowledged signi cantly higher values of lipid pro le by gender strati cation, except for TG levels (the female patients had greater TG compared to male patients: 180.5 ± 94 vs 163.7 ± 90 mg dL). In contrast to this study, Casula et al, in a study of FH patients from Italy, identi ed no signi cant differences between genders, the means levels of lipid panel being close to those recorded by the subjects included in our study (22). Hypertension was the main cardiovascular risk factor for both sexes, followed by sedentary lifestyle and obesity for the female group and active or passive smoking for the male group.…”

Evaluation of Cardiovascular Risk Factors in Patients With Familial Hypercholesterolemia From the North-Eastern Area of Romania

“…The laboratory tests acknowledged signi cantly higher values of lipid pro le by gender strati cation, except for TG levels (the female patients had greater TG compared to male patients: 180.5 ± 94 vs 163.7 ± 90 mg dl). In contrast to our study, Casula et al, in a study of FH patients from Italy, identi ed no signi cant differences between genders, the means levels of lipid panel being close to those recorded by the subjects included in our study (21). Hypertension was the main cardiovascular risk factor for both sexes, followed by sedentary lifestyle and obesity for the female FH group and active or passive smoker for the male FH group.…”

A Real-World Experience of Clinical, Biochemical and Genetic Assessment of Patients with Homozygous Familial Hypercholesterolemia

“…Patients with a clinical picture and a family history of Familial Combined Hyperlipidemia were excluded [12,13]. Reported data are integrated into LIPIGEN, an Italian registry of patients with familial dyslipidemias [14][15][16].…”