Diagnostic performance of different criteria and status of Prothrombotic Biomarkers in subjects with Familial Hypercholesterolaemia / Radzi Rahmat

Familial Hypercholesterolaemia (FH) have several diagnostic criteria including the Dutch Lipid Clinic Criteria (DLCC). However, the comparative diagnostic reference and association between these criteria have yet to be established. Furthermore, the literatures on the prothrombotic status of FH and diagnosed using the DLCC compared to related unaffected (RUC) and normal controls (NC) is scarce. In this study, the diagnostic performance evaluations of Simon Bromme's (SB) criteria, USMEDPED and Japanese FH Criteria against DLCC were done and association between DLCC FH subgroups with the criteria were analyzed along with investigation of prothrombogenic status in FH patients based on DLCC compared to RUC and NC. 415 modified DLCC positive FH subjects and 340 normal controls were tested with the three other criteria. In the biomarkers study, 120 FH, 68 RUC and 178 NC recruited and matched for age, gender, ethnicity, smoking status, and hypertension. Blood samples were collected and analysed for the biomarkers. Correlation between LDL-c and the biomarkers were tested by using biomarker assays. All tested criteria showed comparable high specificity (99.4-98.8%). SB criteria showed highest sensitivity (51.1%) but USMEDPED showed lowest (25.3%). The prothrombotic biomarkers were higher in overall FH and definite FH compared to NC. There were correlation between prothrombogenic markers and LDL-c. In diagnosing FH, as alternative, SB criteria and JFHC preferred to be used as diagnostic criteria of FH. As the conclusion, along with FH, RUC group are at risk of developing thrombotic complication but less severe.