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


      • FH is a genetic disorder characterized by high levels of cholesterol from birth.
      • Identification of FH subjects is crucial to prevent premature cardiovascular events.
      • FH is clinically diagnosed by means of several criteria, including the DLCN score.
      • The application of the DLCN score may be limited by missing patient information.


      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.


      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.


      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.


      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.


      To read this article in full you will need to make a payment

      Purchase one-time access:

      Academic & Personal: 24 hour online accessCorporate R&D Professionals: 24 hour online access
      One-time access price info
      • For academic or personal research use, select 'Academic and Personal'
      • For corporate R&D use, select 'Corporate R&D Professionals'


      Subscribe to Atherosclerosis
      Already a print subscriber? Claim online access
      Already an online subscriber? Sign in
      Institutional Access: Sign in to ScienceDirect


        • Nordestgaard B.G.
        • Chapman M.J.
        • Humphries S.E.
        • et al.
        Familial hypercholesterolaemia is underdiagnosed and undertreated in the general population: guidance for clinicians to prevent coronary heart disease: consensus statement of the European atherosclerosis society.
        Eur. Heart J. 2013; 34 (3478-3490a)
        • Talmud P.J.
        • Shah S.
        • Whittall R.
        • et al.
        Use of low-density lipoprotein cholesterol gene score to distinguish patients with polygenic and monogenic familial hypercholesterolaemia: a case-control study.
        Lancet. 2013; 381: 1293-1301
      1. World Health Organization, Human Genetics Programme. Familial Hypercholesterolemia: Report of a Second WHO Consultation. WHO, Geneva1999 (WHO/HGN/FH/Cons/99.2)
      2. Risk of fatal coronary heart disease in familial hypercholesterolaemia. Scientific Steering Committee on behalf of the Simon Broome Register Group.
        BMJ. 1991; 303: 893-896
        • Defesche J.C.
        • Lansberg P.J.
        • Umans-Eckenhausen M.A.
        • et al.
        Advanced method for the identification of patients with inherited hypercholesterolemia.
        Semin. Vasc. Med. 2004; 4: 59-65
        • Averna M.
        • Cefalu A.B.
        • Casula M.
        • et al.
        Familial hypercholesterolemia: the Italian atherosclerosis society network (LIPIGEN).
        Atherosclerosis Suppl. 2017; 29: 11-16
        • Besseling J.
        • Kindt I.
        • Hof M.
        • et al.
        Severe heterozygous familial hypercholesterolemia and risk for cardiovascular disease: a study of a cohort of 14,000 mutation carriers.
        Atherosclerosis. 2014; 233: 219-223
        • Benn M.
        • Watts G.F.
        • Tybjaerg-Hansen A.
        • et al.
        Familial hypercholesterolemia in the Danish general population: prevalence, coronary artery disease, and cholesterol-lowering medication.
        J. Clin. Endocrinol. Metabol. 2012; 97: 3956-3964
        • Catapano A.L.
        • Graham I.
        • De Backer G.
        • et al.
        2016 ESC/EAS guidelines for the management of dyslipidaemias: the task force for the management of dyslipidaemias of the European society of cardiology (ESC) and European atherosclerosis society (EAS) developed with the special contribution of the European assocciation for cardiovascular prevention & rehabilitation (EACPR).
        Atherosclerosis. 2016; 253: 281-344
        • Troeung L.
        • Arnold-Reed D.
        • Chan She Ping-Delfos W.
        • et al.
        A new electronic screening tool for identifying risk of familial hypercholesterolaemia in general practice.
        Heart. 2016; 102: 855-861
        • Wiegman A.
        • Gidding S.S.
        • Watts G.F.
        • et al.
        Familial hypercholesterolaemia in children and adolescents: gaining decades of life by optimizing detection and treatment.
        Eur. Heart J. 2015; 36: 2425-2437