2008 Civeira et al and the predictable bulge in later statistics

Damgaard’s study (doi:10.1016/j.atherosclerosis.2004.12.001) shows us that the Dutch scoring system used in the 2013 EAS report is consistent with a 50% hit rate. In the other 50% no mutation was found. the Definite FH will have a greater presence of verified mutation carriers (~2/3) than will the Probable FH (~1/3). Van der Graaf went on to show that this was due to inadequate exclusionary criteria .  If both FCH and FH can have passing scores as “FH” and if FH has relatively higher levels of LDLC scoring at Definite FH, while the FCH aggregate at the next lower category — Probable FH — with relatively higher rates of obesity, diabetes, and metabolic syndrome, then one would expect to see a spike of rates of obesity, diabetes, and metabolic syndrome in that next lower category … and in inverse proportion to the severity of the FH score. And that is precisely what we see here. Having no exclusion for TG in the 1st Danish report, all other diseases with high TG inflate the “FH” results: T2DM, Obesity, and METS for example. And FCH can be associated with all three.  On the right, we have Civeira et al. Patients were originally diagnosed as FCH, but then tested for FH mutations. Those who were actually FH, compared to the remaining FCH, had higher LDLC but lower rates of T2DM and Obesity. At bottom left, we see Benn et al in the 2012 1st Danish report. Patients were deemed to have FH by a scoring system where LDLC levels dominate.  Those with lower scores, and thus, tending to have lower LDLC had higher rates of Diabetes and Obesity. Also, by the criteria of the Dutch scoring system, the Definite FH will tend to have higher LDLC than the Probable FH. But note that obesity and T2DM rates are lowerfor the severest scoring Definite FH but higher for the relatively milder Probable FH. The relationship between FH Definite and FH Probable in the Danish source for the 2013 EAS authoritative report resembles the relationship between FH and FCH.

2008 Civeira et al and the predictable bulge in later statistics