Familial hypercholesterolæmia in children and adolescents: Gaining decades of life by optimizing detection and treatment
| Autor: | Wiegman, A., Gidding, S., Watts, G., Chapman, M., Ginsberg, H., Cuchel, M., Ose, L., Averna, M., Boileau, C., Borén, J., Bruckert, E., Catapano, A., Defesche, J., Descamps, O., Hegele, R., Hovingh, G., Humphries, S., Kovanen, P., Kuivenhoven, J., Masana, L., Nordestgaard, B., Pajukanta, P., Parhofer, K., Raal, F., Ray, K., Santos, R., Stalenhoef, A., Steinhagen Thiessen, E., Stroes, E., Taskinen, M., Tybjealigrg Hansen, A., Wiklund, O. |
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| Přispěvatelé: | Wiegman, A., Gidding, S., Watts, G., Chapman, M., Ginsberg, H., Cuchel, M., Ose, L., Averna, M., Boileau, C., Borén, J., Bruckert, E., Catapano, A., Defesche, J., Descamps, O., Hegele, R., Hovingh, G., Humphries, S., Kovanen, P., Kuivenhoven, J., Masana, L., Nordestgaard, B., Pajukanta, P., Parhofer, K., Raal, F., Ray, K., Santos, R., Stalenhoef, A., Steinhagen- Thiessen, E., Stroes, E., Taskinen, M., Tybjealigrg-Hansen, A., Wiklund, O., Steinhagen-Thiessen, E. |
| Jazyk: | angličtina |
| Rok vydání: | 2015 |
| Předmět: |
Counseling
European Atherosclerosis Society Consensus Panel Pediatrics Cardiac & Cardiovascular Systems STATIN THERAPY Settore MED/09 - Medicina Interna Vascular damage Radboud Institute for Health Sciences [Radboudumc 16] Familial hypercholesterolemia Adolescents Carotid Intima-Media Thickness INTIMA-MEDIA THICKNESS Cost of Illness Pregnancy Risk Factors Diagnosis YOUNG-ADULTS HIPERCOLESTEROLEMIA (DIAGNÓSTICO TERAPIA TENDÊNCIAS) Family history Young adult Child Children Evidence-Based Medicine medicine.diagnostic_test Homozygote Middle Aged Familial hypercholesterolæmia 3. Good health Economics Medical Consensus statement Ezetimibe LDL cholesterol PCSK9 inhibitor Statin Treatment Cardiology and Cardiovascular Medicine CARDIOVASCULAR-DISEASE Female lipids (amino acids peptides and proteins) Familial hypercholesterolaemia Life Sciences & Biomedicine Diagnosi medicine.drug Adult Heterozygote medicine.medical_specialty Adolescent medicine.drug_class ENDOTHELIAL FUNCTION LOW-DENSITY-LIPOPROTEIN Reviews COST-EFFECTIVENESS ANALYSIS 1102 Cardiovascular Medicine And Haematology Medication Adherence Hyperlipoproteinemia Type II Young Adult Life Expectancy medicine Humans CORONARY-HEART-DISEASE Genetic Testing Genetic testing Science & Technology Clinical Laboratory Techniques business.industry Prevention Atherosclerosis medicine.disease Diet ASSOCIATION EXPERT PANEL BLOOD-PRESSURE RESEARCH Pregnancy Complications Early Diagnosis Intima-media thickness Cardiovascular System & Hematology Dietary Supplements Physical therapy Cardiovascular System & Cardiology business |
| Zdroj: | Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual) Universidade de São Paulo (USP) instacron:USP European Heart Journal, 36, 36, pp. 2425-37 European Heart Journal, 36, 2425-37 European Heart Journal |
| ISSN: | 0195-668X |
| Popis: | Contains fulltext : 155263.pdf (Publisher’s version ) (Open Access) Familial hypercholesterolaemia (FH) is a common genetic cause of premature coronary heart disease (CHD). Globally, one baby is born with FH every minute. If diagnosed and treated early in childhood, individuals with FH can have normal life expectancy. This consensus paper aims to improve awareness of the need for early detection and management of FH children. Familial hypercholesterolaemia is diagnosed either on phenotypic criteria, i.e. an elevated low-density lipoprotein cholesterol (LDL-C) level plus a family history of elevated LDL-C, premature coronary artery disease and/or genetic diagnosis, or positive genetic testing. Childhood is the optimal period for discrimination between FH and non-FH using LDL-C screening. An LDL-C >/=5 mmol/L (190 mg/dL), or an LDL-C >/=4 mmol/L (160 mg/dL) with family history of premature CHD and/or high baseline cholesterol in one parent, make the phenotypic diagnosis. If a parent has a genetic defect, the LDL-C cut-off for the child is >/=3.5 mmol/L (130 mg/dL). We recommend cascade screening of families using a combined phenotypic and genotypic strategy. In children, testing is recommended from age 5 years, or earlier if homozygous FH is suspected. A healthy lifestyle and statin treatment (from age 8 to 10 years) are the cornerstones of management of heterozygous FH. Target LDL-C is 10 years, or ideally 50% reduction from baseline if 8-10 years, especially with very high LDL-C, elevated lipoprotein(a), a family history of premature CHD or other cardiovascular risk factors, balanced against the long-term risk of treatment side effects. Identifying FH early and optimally lowering LDL-C over the lifespan reduces cumulative LDL-C burden and offers health and socioeconomic benefits. To drive policy change for timely detection and management, we call for further studies in the young. Increased awareness, early identification, and optimal treatment from childhood are critical to adding decades of healthy life for children and adolescents with FH. |
| Databáze: | OpenAIRE |
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