Diagnostic performance of various familial hypercholesterolaemia diagnostic criteria compared to Dutch lipid clinic criteria in an Asian population

Abstract

BackgroundFamilial hypercholesterolaemia (FH) is a genetic disorder with a high risk of developing premature coronary artery disease that should be diagnosed as early as possible. Several clinical diagnostic criteria for FH are available, with the Dutch Lipid Clinic Criteria (DLCC) being widely used. Information regarding diagnostic performances of the other criteria against the DLCC is scarce. We aimed to examine the diagnostic performance of the Simon-Broom (SB) Register criteria, the US Make Early Diagnosis to Prevent Early Deaths (US MEDPED) and the Japanese FH Management Criteria (JFHMC) compared to the DLCC.MethodsSeven hundered fifty five individuals from specialist clinics and community health screenings with LDL-c level ≥ 4.0 mmol/L were selected and diagnosed as FH using the DLCC, the SB Register criteria, the US MEDPED and the JFHMC. The sensitivity, specificity, efficiency, positive and negative predictive values of individuals screened with the SB register criteria, US MEDPED and JFHMC were assessed against the DLCC.ResultsWe found the SB register criteria identified more individuals with FH compared to the US MEDPED and the JFHMC (212 vs. 105 vs. 195; p < 0.001) when assessed against the DLCC. The SB Register criteria, the US MEDPED and the JFHMC had low sensitivity (51.1% vs. 25.3% vs. 47.0% respectively). The SB Register criteria showed better diagnostic performance than the other criteria with 98.8% specificity, 28.6% efficiency value, 98.1% and 62.3% for positive and negative predictive values respectively.ConclusionThe SB Register criteria appears to be more useful in identifying positive cases leading to genetic testing compared to the JFHMC and US MEDPED in this Asian population. However, further research looking into a suitable diagnosis criterion with high likelihood of positive genetic findings is required in the Asian population including in Malaysia.

Familial hypercholesterolemia in Southeast and East Asia

“…Cases diagnosed based on DLCN criteria were considered true positive, from which the sensitivities and positive predictive values of other criteria were derived. In this cohort, the Simon Broome criteria had a sensitivity of 51% and a positive predictive value of 98.8%, followed by the JFHMC with a sensitivity of 47% and a positive predictive value of 97.9% [18] .…”

Validity and reliability of an adapted questionnaire measuring knowledge, awareness and practice regarding familial hypercholesterolaemia among primary care physicians in Malaysia

“…This was crucial as these criteria would be useful in detection and diagnosis of FH, and would be relevant to our PCP. The SBR Criteria was identified to perform better in detecting FH cases among Malaysian population compared to DLCN and US MED-PED Criteria as evidenced by a recent local study by Abdul-Razak et al [50].…”

“…The SBR Criteria was identified to perform better in detecting FH cases among Malaysian population compared to DLCN and US MED-PED Criteria as evidenced by a recent local study by Abdul-Razak et al . [ 50 ].…”

A Global Review on the Utility of Genetic Testing for Familial Hypercholesterolemia

“…An International Classification of Diseases, Tenth Revision, (ICD-10) code for FH diagnosis was recently approved in October 2016 [15]. Diagnostic criteria for FH are the Simon Broome Register Criteria (SB), Dutch Lipid Clinical Network (DLCN), the US Make Early Diagnosis to Prevent Early Deaths Criteria (MEDPED), and the Japanese FH Management Criteria (JFHMC) [1][2][3]16]. In 2013, the European Atherosclerosis Society (EAS) published a consensus statement to set standard clinical diagnostic criteria in Europe [17].…”