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

BACKGROUND: Familial 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. METHODS: Seven 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. RESULTS: We 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. CONCLUSION: The 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.

Comparing measured total carbon dioxide and calculated bicarbonate.

INTRODUCTION: The objective of the study is to determine the level of agreement between measured total carbon dioxide (TCO2) and calculated bicarbonate (HCO3-) in our laboratory. MATERIALS AND METHODS: TCO2 and HCO3- values of 1820 samples drawn at the same time from the patient were compared. TCO2 from venous samples was measured on Dimension RxL while HCO3- was obtained from arterial blood gas samples analyzed on Radiometer ABL 700. RESULTS: The TCO2 and HCO3- values correlated well (r = 0.977, p < 0.001), with the correlation given by the equation, y = 0.986x - 0.5335. Using Bland-Altman analysis, the bias was 0.87 mmol/L (SD 1.42 mmol/L), and the limits of agreement (LOA) were -1.92 to 3.67 mmol/L. Story and Poustie's criteria were applied to study the agreement between these two methods. Based on the first criterion that the bias between TCO2 and HCO3- should be less than +/- 1 mmol/L, the results for the two methods appear to be in good agreement. The second criterion requires that the LOA between the two methods should range between a bias of +/- 2 mmol/L or a total span of 4 mmol/L; the LOA was exceeded in our study. Using the total allowable error in the Bland Altman plot also showed that the two values cannot be used interchangeably especially at the lower values. CONCLUSIONS: TCO2 did not show good agreement with HCO3-. Clinicians should be aware of this discrepancy and hence should be cautious when using HCO3- for management of acid-base disorders.

Hemoglobin variants detected by hemoglobin A1c (HbA1c) analysis and the effects on HbA1c measurements.

BACKGROUND: Hemoglobin (Hb) A1c is a tool widely used to monitor long-term glycemic control in diabetic patients. The objective of our study is to compare the HbA1c values measured on high performance liquid chromatography (HPLC) and immunoassay in patients who were detected to have hemoglobin variant after HbA1c analysis. MATERIALS AND METHODS: We compared the HbA1c values measured using the Arkray Adams A1c HA-8160 (HPLC method) and Roche Cobas Integra (immunoturbidimetric method) from diabetic patients who were diagnosed with hemoglobin variants. RESULTS: Forty-three diabetic patients were diagnosed with hemoglobin variants: 13 elevated Hb F, 12 Hb E trait, seven Hb S trait, seven Hb D trait, two Hb E / beta-Thalassemia, one Hb C trait, and one homozygous Hb S. CONCLUSION: Knowledge of hemoglobin variants affecting HbA1c measurements is essential, in order to avoid mismanagement of diabetic patients.