Table 2

NICE recommended criteria performance (detection rate, sensitivity, specificity, PPV, NPV, AUC) for identifying monogenic FH (n=260)

Threshold for the various case-finding toolsFH positive above thresholdFH positive below thresholdDetection rateSensitivity
(95% CI)
Specificity
(95% CI)
PPV*
(95% CI)
NPV*
(95% CI)
AUC
(95% CI)
FAMCAT 1 (at 0.140 threshold)5/1811/24227.8% (12.5%–50.9%)31.2% (11.0% to 58.7%)94.7% (91.1% to 97.1%)25.8% (12.8% to 45.2%)95.9% (94.4% to 97.0%)0.63 (0.51 to 0.75)
FAMCAT 2 (at 0.0047 threshold)11/245/23645.8% (27.9%–64.9%)68.8% (41.3% to 89.0%)94.7% (91.1% to 97.1%)43.4% (28.3% to 57.4%)98.1% (96.1% to 99.0%)0.82 (0.70 to 0.94)
Simon-Broome Possible FH (TC >7.5 mmol/L or low-density lipoprotein cholesterol >4.9 mmol/L and family history premature CHD+)9/807/18011.3%
(6.0%–20.0%)
56.3%
(29.9% to 80.2%)
70.9%
(64.8% to 76.5%)
10.3%
(6.7% to 15.3%)
96.5%
(94.0% to 97.9%)
0.64
(0.51 to 0.76)
Dutch Lipid Clinical Network Criteria Score ≥6 points (Probable FH)6/1710/24335.3%
(17.3%–58.7%)
37.5%
(15.2% to 64.6%)
95.5%
(92.1% to 97.7%)
33.0%
(17.5% to 52.5%)
96.3%
(94.7% to 97.4%)
0.66
(0.54 to 0.79)
TC >9.0 mmol/L (≥30 years) OR TC >7.5 mmol/L (<30 years)7/259/23528.0%
(14.3%–47.6%)
43.8%
(19.8% to 70.1%)
92.6%
(88.6% to 95.6%)
26.0%
(14.8% to 40.9%)
96.5%
(94.8% to 97.7%)
0.68
(0.56 to 0.81)
  • Detection rate.

  • *PPV and NPV assumes a prevalence of FH of 0.056 based on study.

  • †Premature defined as coronary heart disease <50 years in second-degree relative or <60 years in first-degree relative.

  • †95% CI calculated using the Wilson score interval discussed in Brown, LD, Cat, TT and DasGupta, A (2001). Interval Estimation for a proportion. Statistical Science 16:101–133.

  • AUC, area under the curve; FAMCAT, Familial Hypercholesterolaemia Case Ascertainment Tool; FH, familial hypercholesterolaemia; NICE, National Institute for Health and Care Excellence; NPV, negative predictive value; PPV, positive predictive value; TC, total cholesterol.