Abstract Book - Pathology and Laboratory Medicine - University of ...

ABSTRACT #28CLINICAL SCIENCESGRADUATE STUDENTPOSTER presentationPhenotypic characterization and cardiovascular outcomes of patients withfamilial hypercholesterolemiaMatt Allard 1 , Michal Martinka, Ahmad Al-Sarraf, Dan Holmes, Jiri Frohlich1Healthy Heart Prevention Clinic, St. Paul's Hospital/ Providence Health CareBackground /objectivesFamilial hypercholesterolemia (FH) is a common autosomal dominant disorder caused by loss-of-functionmutations in the low-density lipoprotein (LDL) receptor (LDL-R) or apolipoprotein B-100 (apo B) gene, orgain-of-function mutations in proprotein convertase subtilisin/kexin type 9 (PCSK9), resulting in very highblood cholesterol levels and premature cardiovascular disease (CVD).To identify and phenotypically characterize patients in the Healthy Heart Prevention Clinic with FH todetermine characteristics that increase their risk of developing CVD.40MethodsPerform a chart review of the FH patients in the Prevention Clinic and use of the Cardiac Registry to determinewhich patients in this cohort developed CVD (Group 1).ResultsPreliminary work on 354 patients revealed that 72 had evidence of CVD. The average age of these patients(Group 1) is 69.7 with 58.3% being male. The 282 FH patients not found to have evidence of CVD (Group2) have an average age of 60.9 with 41.5% being male. Based upon the Dutch Lipid Clinic Network Criteria,90.3% of Group 1 was defined as having definite FH compared to 54.6% of Group 2. There were some notabledifferences in CV risk factors between the 2 groups. In the patients of Group 1 62.5% had a family history ofpremature CVD, 37.5% had history of hypertension, and 59.7% developed tendon xanthomas. In Group 251.1% had a family history of premature CVD, 18.8% had a history of hypertension, and 35.1% developedtendon xanthomas. Lastly, there is a large difference in the Lp(a) values of the two groups with Group 1 having anaverage Lp(a) value of 799.4 mg/L and Group 2 having an average Lp(a) value of 541.1 mg/L.ConclusionsDiagnosis of definite FH, older age, presence of tendon xanthomas, family history and high Lp(a) levels weremuch more prevalent in patients who developed CVD. Identifying these risk factors will allow for earlier and moreaggressive management to reduce the risk of CVD.2012 * Oral/Poster Presentations