To have or not to have familial hypercholesterolaemia, that is the question: genetic and different clinical criteria

Familial hypercholesterolaemia (FH) is an inherited disorder of cholesterol metabolism with increased cardiovascular risk. The molecular basis of FH is well understood and the molecular diagnosis is extensively applied. There are several clinical criteria for the clinical diagnosis of FH. The three criteria most applied worldwide have been proposed by the Simon Broome Register Group, the USA Make Early Diagnosis to Prevent Early Death (MEDPED) Program, and the Dutch MEDPED Program. The clinical diagnosis of FH is usually obtained by combining evidence from clinical history, physical signs, biochemical markers and family history. The Dutch MEDPED criteria (DMP) is more specific and is based on a score system, the Simon Broome criteria (SB) and the USA MEDPED criteria (MP) are more broad. Although all of them are based on clinical personal and family history of premature coronary artery disease (CAD) and plasma cholesterol levels, they use different specifications. SB and DMP criteria are the most used worldwide. The AIM of this work was to compare both methods and examine the relationship between phenotype and genotype to determine which one is more accurate for the clinical identification of FH patients that should be further characterized