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High prevalence of familial hypercholesterolemia in Argentina: Results of the first detection program
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Abstracts / Atherosclerosis 252 (2016) e1ee196
Clinical Research Unit-, Singapore, Singapore; 3 Khoo Teck Puat HospitalYishun Central- Singapore, Clinical Research Unit, Singapore, Singapore; 4 Khoo Teck Puat Hospital- Yishun Central Singapore, Department of Laboratory Medicine, Singapore, Singapore; 5 Khoo Teck Puat HospitalYishun Central- Singapore, Diabetes Centre, Singapore, Singapore Objectives: To ascertain the prevalence, aetiology, associations of patients with extreme Hypercholesterolemia. Methods: A retrospective analysis of lipid profile reports of patients reviewed in Khoo Teck Puat Hospital in 2013 and 2014 was done.Data of patients with very high LDL>8.5 mmol/L were analyzed to find out cause association and short term morbidity and mortality. Results: A total of 31,411 lipid profiles were available during the 2 year period. Thirty nine patients (0.124%) had LDL levels>8.5 mmol/L.The mean age of the 39 patients was 49.9 years(SD±18.19).The majority were males (51.28%).Thirty-six percent(n¼14)were Chinese while 46% (n¼18) were Malay.Mean total Cholesterol and mean LDL Cholesterol was 13.71(10.24 to 47.29) mmolL and 10.65 ( 8.5 to 28.4) mmol/L respectively. Secondary causes included Nephrotic syndrome (n¼8), severe hypothyroidism (n¼3) and moderate to severe renal impairment (n¼9). Fifteen patients had Type 2 Diabetes. Twelve patients had established Ischaemic heart disease while 6 patients had cerebrovascular disease. Ten patients were on statins before testing. After excluding secondary causes,11 patients (28.2 %) fulfilled the criteria for definite Familial Hypercholesterolemia. Within 3 years of the baseline lipid profile (by end December 2015) 10 patients (25.7%) had died. Conclusions: Ethnic differences exist in the prevalence of severe hypercholesterolemia. Secondary causes for extremely high LDL were found in a significant number of cases.We also noticed that established vascular disease, premature morbidity and mortality were high in our cohort, suggesting that extreme hypercholesterolemia is associated with a very poor prognosis.
patients and corneal arch in 28 subjects under 40 years old. All patients received appropriate counseling and treatment. Conclusions: Genetic studies will provide more accurate prevalence, however, current data estimated that 1/152 subjec750ts may present definitive diagnosis of FH according to DLCC. This frequency is significantly higher than expected.
EAS16-0644, DYSLIPIDEMIAS: DYSLIPIDEMIAS, SCREENING AND TREATMENT. NETWORK ANALYSIS APPROACH TO FIND NEW CANDIDATE GENES AND PATHWAYS INVOLVED IN THE PATHOPHYSIOLOGY OF FAMILIAL HYPERCHOLESTEROLEMIA N. Rossi 1, M. Bourbon 1, F. Enguita 2. 1 Instituto Nacional de Saúde Doutor ~o da Saúde e Doenças Cro ~o Transmissíveis, nicas Na Ricardo Jorge, Promoça Lisbon, Portugal; 2 Instituto de Medicina Molecular, Faculdade de MedicinaUniversidade de Lisboa, Lisbon, Portugal Objectives: Familial hypercholesterolaemia (FH) is a common genetic cause of premature coronary heart disease (CHD) due to lifelong elevated plasma low-density lipoprotein (LDL) levels.
pez 2, A. Cristaldi 3, J.C. Tuseddo 3, L. Cacciagiú 2, G. P. Corral 1, G.I. Lo Berg 2, L. Schreier 2. 1 School of Medicine, FASTA University, Mar del Plata, Argentina; 2 Lab of Lipid and Atherosclerosis- Department of Clinical Biochemistry, University of Buenos Aires, Buenos Aires, Argentina; 3 Center of Medical Ambulatory Specialties, Direction of Health, District of General n, Mar del Plata, Argentina Pueyrredo
Worldwide only 40% of patients with a clinical diagnosis of FH carry a mutation in any of the three genes (LDLR, APOB, PCSK9) that are currently known to be associated to the disease. Thus we conclude that there is still a gap in knowledge about the genetic background that lies behind FH and about other contributions, probably environmental and epigenetic, that can be related to the phenotypic variability in FH. The aim of this project is to overcome this gap. Methods: At the time we are integrating available knowledge about physical and functional interactions between proteins that are known to be causative of lipid disorders, proteins whose genes are differentially expressed in FH and gene-microRNA targets, in order to find new candidate genes and to dissect the modules and pathways that are dysregulated in the disease. Free softwares have been used for this analysis: STRING, GeneMANIA and Cytoscape for networks building, MiRWalk for genemicroRNA targets evaluation, RMA and Affymetrix TAC for differentially expressed genes analysis. Most interesting hits will be then considered to set up a lipid genes panel for targeted sequencing. Results: So far this list already includes 27 genes, 25 previously associated to familial dyslipidaemia and 2 never described in this field. Conclusions: The discovery of novel causative mutations and the achievement of a cost-effective FH diagnosis is fundamental to improve patient prognosis.
Objectives: Familial hypercholesterolemia (FH) is one the most common inherited diseases, however it is underdiagnosed and undertreated worldwide. In Argentina, the First Detection Program was launched in April 2015 in a district of Buenos Aires. Our aim is to show preliminary results of our experience.
EAS16-0152, DYSLIPIDEMIAS: DYSLIPIDEMIAS, SCREENING AND TREATMENT. PARAMETRES OF ARTERIAL REMODELING IN FAMILAL HYPERCHOLESTEROLEMIA PATIENTS
EAS16-0076, DYSLIPIDEMIAS: DYSLIPIDEMIAS, SCREENING AND TREATMENT. HIGH PREVALENCE OF FAMILIAL HYPERCHOLESTEROLEMIA IN ARGENTINA: RESULTS OF THE FIRST DETECTION PROGRAM
Methods: A record of 38033 subjects attended in the health system during 2012-2015, with lipid measurements, has been provided by the local Direction of Health. Cutoff values of 300 mg% for cholesterol and 190 mg% for LDL-cholesterol were established, thus1460 patients had at least one parameter above the cutoff. Patients were contacted and up to date 216 hypercholesterolemic patients (Female:139, Male:77; 20-73 years old) have been recruited, giving their informed consent for the study. Dutch Lipid Clinic Criteria (DLCC) scores were applied. As 90 out of the 216 patients were under hypolipidemic treatment, scores were corrected by LDLchol values according to published recommendations. Complete lipid profile was assessed in non-fasting blood. Hepatic enzymes, TSH and creatinine were measured to exclude secondary causes (n¼11). Results: According to DLCC, 37 out of 216 patients presented definitive diagnosis (score>8) and 30 probable diagnosis (score:6-7), not homozygous FH patients were detected. Tendinous xanthomas were detected in 7
V. Korneva, T. Kuznettsova. Petrozavodsk state university, faculty therapy, Petrozavodsk, Russia Objectives: evaluate arterial stiffness and augmentation index in familial hypercholesterolemia (FH) patients. Methods: 156 normotensive patients were examined, average age 36,8±2,9 years. We created two groups: 1) FH patients, n¼88, male 43; 2) patients with normal lipid profile, n¼68, male 21. During 24-hour monitoring of blood pressure (BPLab device, «Petr Telegin», Russia) we had estimated pulse wave velocity (PWV), augmentation index (Aix), index of arterial stiffness (ASI), ambulatory index rigidity (AASI), RWTT (Reflected Wave Transit Time). Results: In FH patients total cholesterol (TC) was 8,72±0,17 mmol/l, LDL 6,04±0,15 mmol/l, HDL - 1,59±0,06 mmol/l, TG - 1,78±0,13 mmol/l. In
Abstracts / Atherosclerosis 252 (2016) e1ee196
Clinical Research Unit-, Singapore, Singapore; 3 Khoo Teck Puat HospitalYishun Central- Singapore, Clinical Research Unit, Singapore, Singapore; 4 Khoo Teck Puat Hospital- Yishun Central Singapore, Department of Laboratory Medicine, Singapore, Singapore; 5 Khoo Teck Puat HospitalYishun Central- Singapore, Diabetes Centre, Singapore, Singapore Objectives: To ascertain the prevalence, aetiology, associations of patients with extreme Hypercholesterolemia. Methods: A retrospective analysis of lipid profile reports of patients reviewed in Khoo Teck Puat Hospital in 2013 and 2014 was done.Data of patients with very high LDL>8.5 mmol/L were analyzed to find out cause association and short term morbidity and mortality. Results: A total of 31,411 lipid profiles were available during the 2 year period. Thirty nine patients (0.124%) had LDL levels>8.5 mmol/L.The mean age of the 39 patients was 49.9 years(SD±18.19).The majority were males (51.28%).Thirty-six percent(n¼14)were Chinese while 46% (n¼18) were Malay.Mean total Cholesterol and mean LDL Cholesterol was 13.71(10.24 to 47.29) mmolL and 10.65 ( 8.5 to 28.4) mmol/L respectively. Secondary causes included Nephrotic syndrome (n¼8), severe hypothyroidism (n¼3) and moderate to severe renal impairment (n¼9). Fifteen patients had Type 2 Diabetes. Twelve patients had established Ischaemic heart disease while 6 patients had cerebrovascular disease. Ten patients were on statins before testing. After excluding secondary causes,11 patients (28.2 %) fulfilled the criteria for definite Familial Hypercholesterolemia. Within 3 years of the baseline lipid profile (by end December 2015) 10 patients (25.7%) had died. Conclusions: Ethnic differences exist in the prevalence of severe hypercholesterolemia. Secondary causes for extremely high LDL were found in a significant number of cases.We also noticed that established vascular disease, premature morbidity and mortality were high in our cohort, suggesting that extreme hypercholesterolemia is associated with a very poor prognosis.
patients and corneal arch in 28 subjects under 40 years old. All patients received appropriate counseling and treatment. Conclusions: Genetic studies will provide more accurate prevalence, however, current data estimated that 1/152 subjec750ts may present definitive diagnosis of FH according to DLCC. This frequency is significantly higher than expected.
EAS16-0644, DYSLIPIDEMIAS: DYSLIPIDEMIAS, SCREENING AND TREATMENT. NETWORK ANALYSIS APPROACH TO FIND NEW CANDIDATE GENES AND PATHWAYS INVOLVED IN THE PATHOPHYSIOLOGY OF FAMILIAL HYPERCHOLESTEROLEMIA N. Rossi 1, M. Bourbon 1, F. Enguita 2. 1 Instituto Nacional de Saúde Doutor ~o da Saúde e Doenças Cro ~o Transmissíveis, nicas Na Ricardo Jorge, Promoça Lisbon, Portugal; 2 Instituto de Medicina Molecular, Faculdade de MedicinaUniversidade de Lisboa, Lisbon, Portugal Objectives: Familial hypercholesterolaemia (FH) is a common genetic cause of premature coronary heart disease (CHD) due to lifelong elevated plasma low-density lipoprotein (LDL) levels.
pez 2, A. Cristaldi 3, J.C. Tuseddo 3, L. Cacciagiú 2, G. P. Corral 1, G.I. Lo Berg 2, L. Schreier 2. 1 School of Medicine, FASTA University, Mar del Plata, Argentina; 2 Lab of Lipid and Atherosclerosis- Department of Clinical Biochemistry, University of Buenos Aires, Buenos Aires, Argentina; 3 Center of Medical Ambulatory Specialties, Direction of Health, District of General n, Mar del Plata, Argentina Pueyrredo
Worldwide only 40% of patients with a clinical diagnosis of FH carry a mutation in any of the three genes (LDLR, APOB, PCSK9) that are currently known to be associated to the disease. Thus we conclude that there is still a gap in knowledge about the genetic background that lies behind FH and about other contributions, probably environmental and epigenetic, that can be related to the phenotypic variability in FH. The aim of this project is to overcome this gap. Methods: At the time we are integrating available knowledge about physical and functional interactions between proteins that are known to be causative of lipid disorders, proteins whose genes are differentially expressed in FH and gene-microRNA targets, in order to find new candidate genes and to dissect the modules and pathways that are dysregulated in the disease. Free softwares have been used for this analysis: STRING, GeneMANIA and Cytoscape for networks building, MiRWalk for genemicroRNA targets evaluation, RMA and Affymetrix TAC for differentially expressed genes analysis. Most interesting hits will be then considered to set up a lipid genes panel for targeted sequencing. Results: So far this list already includes 27 genes, 25 previously associated to familial dyslipidaemia and 2 never described in this field. Conclusions: The discovery of novel causative mutations and the achievement of a cost-effective FH diagnosis is fundamental to improve patient prognosis.
Objectives: Familial hypercholesterolemia (FH) is one the most common inherited diseases, however it is underdiagnosed and undertreated worldwide. In Argentina, the First Detection Program was launched in April 2015 in a district of Buenos Aires. Our aim is to show preliminary results of our experience.
EAS16-0152, DYSLIPIDEMIAS: DYSLIPIDEMIAS, SCREENING AND TREATMENT. PARAMETRES OF ARTERIAL REMODELING IN FAMILAL HYPERCHOLESTEROLEMIA PATIENTS
EAS16-0076, DYSLIPIDEMIAS: DYSLIPIDEMIAS, SCREENING AND TREATMENT. HIGH PREVALENCE OF FAMILIAL HYPERCHOLESTEROLEMIA IN ARGENTINA: RESULTS OF THE FIRST DETECTION PROGRAM
Methods: A record of 38033 subjects attended in the health system during 2012-2015, with lipid measurements, has been provided by the local Direction of Health. Cutoff values of 300 mg% for cholesterol and 190 mg% for LDL-cholesterol were established, thus1460 patients had at least one parameter above the cutoff. Patients were contacted and up to date 216 hypercholesterolemic patients (Female:139, Male:77; 20-73 years old) have been recruited, giving their informed consent for the study. Dutch Lipid Clinic Criteria (DLCC) scores were applied. As 90 out of the 216 patients were under hypolipidemic treatment, scores were corrected by LDLchol values according to published recommendations. Complete lipid profile was assessed in non-fasting blood. Hepatic enzymes, TSH and creatinine were measured to exclude secondary causes (n¼11). Results: According to DLCC, 37 out of 216 patients presented definitive diagnosis (score>8) and 30 probable diagnosis (score:6-7), not homozygous FH patients were detected. Tendinous xanthomas were detected in 7
V. Korneva, T. Kuznettsova. Petrozavodsk state university, faculty therapy, Petrozavodsk, Russia Objectives: evaluate arterial stiffness and augmentation index in familial hypercholesterolemia (FH) patients. Methods: 156 normotensive patients were examined, average age 36,8±2,9 years. We created two groups: 1) FH patients, n¼88, male 43; 2) patients with normal lipid profile, n¼68, male 21. During 24-hour monitoring of blood pressure (BPLab device, «Petr Telegin», Russia) we had estimated pulse wave velocity (PWV), augmentation index (Aix), index of arterial stiffness (ASI), ambulatory index rigidity (AASI), RWTT (Reflected Wave Transit Time). Results: In FH patients total cholesterol (TC) was 8,72±0,17 mmol/l, LDL 6,04±0,15 mmol/l, HDL - 1,59±0,06 mmol/l, TG - 1,78±0,13 mmol/l. In