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PubMed: 30270054, 2-s2.0-85053666909, Background and aims: Management of familial hypercholesterolaemia (FH) may vary across different settings due to factors related to population characteristics, practice, resources and/or policies. We conducted a survey among the worldwide network of EAS FHSC Lead Investigators to provide an overview of FH status in different countries. Methods: Lead Investigators from countries formally involved in the EAS FHSC by mid-May 2018 were invited to provide a brief report on FH status in their countries, including available information, programmes, initiatives, and management. Results: 63 countries provided reports. Data on FH prevalence are lacking in most countries. Where available, data tend to align with recent estimates, suggesting a higher frequency than that traditionally considered. Low rates of FH detection are reported across all regions. National registries and education programmes to improve FH awareness/knowledge are a recognised priority, but funding is often lacking. In most countries, diagnosis primarily relies on the Dutch Lipid Clinics Network criteria. Although available in many countries, genetic testing is not widely implemented (frequent cost issues). There are only a few national official government programmes for FH. Under-treatment is an issue. FH therapy is not universally reimbursed. PCSK9-inhibitors are available in ?2/3 countries. Lipoprotein-apheresis is offered in ?60% countries, although access is limited. Conclusions: FH is a recognised public health concern. Management varies widely across countries, with overall suboptimal identification and under-treatment. Efforts and initiatives to improve FH knowledge and management are underway, including development of national registries, but support, particularly from health authorities, and better funding are greatly needed. © 2018 Elsevier B.V., Universidade de São Paulo, USP European Atherosclerosis Society, EAS Amgen Merck Sharp and Dohme, MSD, The ELSA Study suggests heterozygous FH (HeFH) may affect 1:263 Brazilians (?766,000 individuals). Currently, the only active genetic cascade screening program in Brazil is Hipercol Brasil in Sao Paulo (genetic testing for adults with low-density lipoprotein cholesterol (LDL-C) ?230?mg/dL, to maximise cost-effectiveness), with 1719 heterozygotes, 25 homozygotes, 13 compound-heterozygotes and one double-heterozygote identified by March 2018. To date, 4340 individuals from 440 families were screened. Genetic testing is funded by a government tax reduction programme (PROADI-SUS), and cascade screening by partnering between Samaritano Hospital and Heart Institute (InCor) University of Sao Paulo. Most FH patients are under non-specialist care and currently under-treated., Prevalence is unknown but assumed at 1:250. There is no state programme and few patients were diagnosed before the Latvian FH Registry was established in 2015. To date, the Registry has identified 181 cases (2.3% of 7876 estimated HeFH cases; no HoFH). Cascade screening is performed in first-degree relatives of index cases with probable/definite FH. Genetic testing is not reimbursed but has been funded by research grants for a few patients/relatives. About 5% of patients had LDL-C at target before inclusion in the Registry [ 61 ]. Statins are reimbursed 50% in primary prevention; statins and ezetimibe, 75–100% in secondary prevention; PCSK9i are available, but not reimbursed., Estimated prevalence is 1:250 (based on a meta-analysis of 6 observational studies) or 136,300 adults (only 2% diagnosed) [ 69 , 70 ]. Based on LIPIDOGRAM studies (2004–2015, ?50,000 participants), prevalence might be?1:200 [ 71 , 72 ]. Five HoFH cases are described [ 73 , 74 ]. Patients with DLCN ?3 are referred for genetic testing, funded by the National Health Program. The National Centre for FH at University Clinical Hospital, Medical University of Gdansk, was established in 2017, financed by the Ministry of Health. From August 2017, 345 patients underwent genetic testing (153 positive, including 46 relatives; 1 HoFH). Since 1999, 1884 patients (562 families) have undergone genetic testing and cascade diagnosis (data from the National Polish FH Registry, Medical University of Gdansk, established in 2000). PCSK9i are not reimbursed (under discussion with the Ministry of Health)., The EAS FHSC project has received support from a Pfizer Independent Grant for Learning & Change 2014 (No: 16157823 ) and from investigator-initiated unrestricted research grants to the European Atherosclerosis Society from Amgen , MSD , and Sanofi-Aventis .

Resumen: Los factores de riesgo como la hipertensión arterial (HTA) y la obesidad están presentes desde edades tempranas y tienden a persistir hasta la edad adulta. La detección precoz de estos factores de riesgo es clave para establecer estrategias preventivas eficaces. El propósito de este estudio es determinar la prevalencia de HTA en niños escolares de 10 a 13 años en escuelas públicas de Montevideo, conocer la prevalencia de sobrepeso y obesidad y su posible vínculo con la HTA. Población y método: se realiza un estudio transversal en una muestra representativa de escolares entre 10 y 13 años de escuelas públicas de Montevideo entre octubre de 2015 y junio de 2016. Se mide la presión arterial (PA) y se registra el estado nutricional a través de las siguientes medidas antropométricas: peso, talla, circunferencia de cintura. Se establecen los diagnósticos siguiendo las recomendaciones del cuarto reporte para el diagnóstico, evaluación y tratamiento de la HTA en niños y adolescentes. Se diagnostica estado nutricional en base al índice de masa corporal (IMC) según criterios de la Organización Mundial de la Salud (OMS) 2007 y circunferencia de cintura (CC) según las referencias de Fernández J y colaboradores. Resultados: se relevan 1.346 niños en 48 escuelas. Participan del estudio 1.297 niños, 708 de sexo femenino, con una edad media de 11,8 años. En la muestra se constata normotensión en 1.120 niños, prehipertensión (pre-HTA) en 79 e HTA en 98. Con respecto al estado nutricional se encuentra peso normal en 783 niños, sobrepeso en 347, obesidad en 148 y obesidad severa en 24 niños. La prevalencia estimada para niños de 10 a 13 años en escuelas públicas de Montevideo de pre-HTA es de 7,3% (IC: 5,6-8,9) y de HTA es de 7,8% (IC: 6,1-9,6). No se encuentran diferencias estadísticamente significativas en la prevalencia de pre-HTA e HTA con respecto a sexo, edad o estrato sociocultural. La prevalencia de pre-HTA e HTA en los niños con peso normal es 11,4% frente a los niños con exceso de peso que muestran 21,9% (p=0,003). Se encuentra asociación estadísticamente significativa entre CC mayor al percentil 90 (P90) y la presencia de cifras alteradas de PA. Conclusiones: este estudio encuentra una elevada prevalencia de pre-HTA e HTA que supera las de reportes nacionales previos. Se constata una asociación positiva de pre-HTA e HTA con sobrepeso y obesidad valorado por IMC, así como con la CC mayor al P90 en la franja etaria estudiada. Summary: The purpose of this study is to determine HBP prevalence in school children from 10 to 13 years of age at public schools in Montevideo and to learn about the link between the prevalence of excess weight/obesity and HBP. Population and sampling methods: transversal trial carried out in a representative sample of Montevideo public school children of 10-13 years of age from October 2015 to June 2016. We measured HBP and monitored nutritional status though the measurement of: weight, height and waist circumference. Diagnoses were carried out as per the recommendations of the Fourth Report on the Diagnosis, Evaluation, and Treatment of high Blood Pressure in Children and Adolescents. Their nutritional status based on Body Mass Index BMI was diagnosed as per the WHO 2007 criteria, and Waist Circumference WC as per the references provided by Fernández J, et al. Results: 1,346 children were surveyed in 48 schools and 1,297 participated in the survey, 708 girls of a median age of 11.8 years of age. Normal BP was detected in 1,120 children, pre-hypertension (preHTA) in 79 and HTA in 98. Normal weight was detected in 783 niños, overweight in 347, obesity in 148 and severe obesity in 24 children. Early Stage HBP prevalence was found in 7,3% (IC: 5,6-8,9) and HBP in 7,8% (IC: 6,1-9,6). No statistically significant differences regarding Early Stage HBP or HBP prevalence were found regarding gender, age or social or cultural level. Early Stage HBP and HBP prevalence in normal weighted children was 11.4%, compared to that of overweight children which was 21.9 % (p=0.003). A more significant link was found between WC higher than 90 and altered BP. Conclusions: This trial found a higher prevalence of early stage HBP and HBP than that of previous national reports. We found a positive link between Early Stage HBP, HBP and overweight and obesity, assessed through BMI, WC higher than 90 in the age group surveyed. Resumo: Os fatores de risco como a hipertensão arterial (HAS) e a obesidade estão presentes nas crianças desde cedo e persistem até a idade adulta. A detecção precoce desses fatores de risco é fundamental para o estabelecimento de estratégias preventivas eficazes. O objetivo deste estudo é determinar a prevalência da hipertensão arterial em escolares de 10 a 13 anos de idade em escolas públicas de Montevidéu, para conhecer a prevalência de sobrepeso e obesidade e sua possível relação com a hipertensão. População e métodos: realizamos um estudo transversal com amostra representativa de escolares entre 10 e 13 anos de escolas públicas em Montevidéu, entre outubro de 2015 e junho de 2016. Medimos a pressão arterial (PA) e o estado nutricional a partir das seguintes medidas antropométricas: peso, altura e circunferência da cintura. Os diagnósticos foram estabelecidos seguindo as recomendações do Quarto Relatório para o Diagnóstico, Avaliação e Tratamento da Hipertensão Arterial em Crianças e Adolescentes. O estado nutricional foi diagnosticado com base no Índice de Massa Corporal (IMC) de acordo com os critérios da OMS de 2007 e circunferência da cintura (CC) de acordo com as referências de Fernández J, et al. Resultados: 1346 crianças foram pesquisadas em 48 escolas. O estudo incluiu 1297 crianças, 708 do sexo feminino, com uma idade média de 11,8 anos. 1120 crianças mostraram tensão arterial normal, pré-hipertensão (pré-HTA) 79 e HTA 98. O estado nutricional é o peso foi normal em 783 crianças, 347 tiveram excesso de peso, e 148 em 24 crianças tiveram obesidade ou obesidade severa. A prevalência de pré-HTA para crianças de 10 a 13 anos de escolas públicas de Montevidéu foi 7,3% (IC: 5,6 a 8,9) e a prevalência de hipertensão foi de 7,8% (IC: 6,1-9 6). Não foram encontradas diferenças estatisticamente significantes na prevalência de pré-HTA e HTA com relação a sexo, idade ou estrato sociocultural. A prevalência de pré-HTA e HTA em crianças com peso normal foi de 11,4% em comparação com crianças com excesso de peso que mostram 21,9% (p = 0,003). Encontramos uma associação estatisticamente significativa entre CC maior que P90 e a presença de valores alterados de PA. Conclusões: Este estudo encontrou uma alta prevalência de pré-HTA e HTA, maior ainda que os dados dos relatórios nacionais anteriores. Confirmamos uma associação positiva entre pré-HTA e HTA e sobrepeso e a obesidade, avaliada pelo IMC, e com CC maior que P90 na crianças da faixa etária estudada.

RESUMEN La detección de la hipercolesterolemia familiar permite identificar a un grupo poblacional con elevado riesgo genético utilizando la caracterización molecular de mutaciones en el gene del receptor de LDL, detección que es punto de partida para prevenir la enfermedad coronaria temprana. Los cardiólogos deben reconocer a estos pacientes y a sus grupos familiares, puesto que ello constituye una oportunidad de intervención precoz e individualizada. El programa GENYCO (GENes Y COlesterol) intenta revertir la situación de subdiagnóstico y subtratamiento de esta afección en nuestro medio, la que concierne fundamentalmente al adulto joven, existiendo entre 5.000 y 7.000 portadores de la misma. El tratamiento farmacológico con estatinas y otros hipolipemiantes reduce el riesgo de enfermedad coronaria prematura y pospone la cirugía coronaria en 10 a 20 años, consiguiéndose una sobrevida similar al resto de la población. En un programa piloto hemos identificado 245 afectados vivos con esta condición a partir de 71 casos índice, 18% de los cuales es portador de enfermedad coronaria, estando 85% de los hipercolesterolémicos familiares sin diagnóstico ni tratamiento. Esto implica un promedio de 3,1 afectados detectados a partir de cada caso índice por el método de seguimiento familiar en cascada. Se realizó el test molecular en 23 grupos familiares, identificándose 69 portadores de mutaciones en LDLR y 2 en ApoB100, realizándose el asesoramiento genético y médico. Mediante esta iniciativa pretendemos mejorar la detección y el control de estos individuos para de esa forma reducir la enfermedad coronaria precoz. SUMMARY Familial hypercholesterolemia has been promoted internationally as an excellent model to demonstrate the benefit of prevention of coronary heart disease and early miocardial infarction in young adults, easily identifying a population group with high genetic risk, and using the molecular characterization of mutations in LDL receptor gene. Cardiologists in particular, should recognize these patients and family groups, and use the opportunity for an earlier and more individualized intervention. The GENYCO program (for Genes and Cholesterol) is intended to reverse the situation of insufficient diagnosis and inadequate treatment of a chronic disease that attacks young adults. In Uruguay we estimate between 5.000 and 7.000 FH affected patients. Pharmacological treatment of hypercholesterolemia with statins and other lipid-lowering drugs, based on knowledge of the molecular basis of this disease, produces a substantial reduction in risk of premature cardiovascular disease, postponed coronary artery bypass surgery 10 to 20 years and allows to achieve similar survival to the rest of the population. The pilot program, developed by the authors, identified 245 affected from 71 index cases with 18% of established coronary disease, 85% undiagnosed and untreated. This gives an average of 3.1 detections per index case by the family based cascade method. Molecular test was performed in 23 family groups, and identified 67 LDLR gene mutation carriers and 2 in ApoB100. We performed genetic and medical counseling. The tragedy of the death of young adults with coronary artery disease is reasonably preventable and avoidable.