Background: Familial Hypercholesterolemia (FH) is characterized by high LDL-cholesterol levels and high cardiovascular risk, being caused by mutations in LDLR, APOB, PCSK9, APOE, STAP1 or LDLRAP1 genes. The European Atherosclerosis Society (EAS) has recommended some criteria of clinical suspicion, but their sensitivity and efficiency have not been studied.
Objective:  To establish the frequency of subjects with EAS criteria of clinical suspicion of FH who are carriers of mutations in candidate genes in a cohort from Aragon, Spain.
Material and Methods: The Aragon Work Health Study (AWHS) is a prospective study in which 5700 workers from a factory are being studied from 2009. From this cohort, we selected a group of subjects with one of these inclusion criteria:
1.	Total cholesterol ≥ 310 mg/dL in at least two determinations between 2009 and 2012 or LDL-cholesterol > 95 percentile. Subjects on statin treatment with LDL-cholesterol > 130 mg/dL
2.	Premature coronary heart disease (< 55 years in males and < 65 years in females).
In all selected subjects, LDLR, APOB, PCSK9, APOE, STAP1 and LDLRAP1 genes were sequenced.
Results: From the total cohort, we identified 256 subjects who met inclusion criteria. Genetic sequencing revealed pathogenic mutations as follows: 12 subjects in LDLR gene, 4 subjects in PCSK9 gene and 1 subject in STAP1 gene. That is, 17 subjects out of 256 (6.6%) were carriers of a mutation causing hypercholesterolemia.
Conclusions: Using EAS criteria of clinical suspicion of FH, the 6.6% of subjects were carriers of a pathogenic mutation in candidate FH genes.

05 - SENSITIVITY OF THE CLINICAL CRITERIA FOR SUSPECTED FAMILIAL HYPERCHOLESTEROLEMIA IN THE DETECTION OF DIAGNOSTIC MUTATIONS OF THE DISEASE