Familial hypercholesterolaemia in children and adolescents: gaining decades of life by optimizing detection and treatment

By A. Wiegman, S. Gidding, G. Watts, M. Chapman, H. Ginsberg, M. Cuchel, L. Ose, M. Averna, C. Boileau, Jan Boren and 22 more. European Heart Journal, 2015

768 citations recorded by the source corpus.

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 <3.5 mmol/L (130 mg/dL) if >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.

Subfields: Cancer Research, Endocrinology, Diabetes and Metabolism, Surgery

View Paper: https://www.semanticscholar.org/paper/5252620a0f0a43ef249072de6865f44b88243a5b

How researchers see this paper

The researchers whose trusted networks rank it highest, strongest advocate first. Every researcher gets a different order.

In Cancer Research

1. Børge G. Nordestgaard
2. I. Graham
3. Jan Boren
4. S. Tsimikas

In Endocrinology, Diabetes and Metabolism

1. Børge G. Nordestgaard
2. I. Graham
3. Jan Boren
4. M. Chapman
5. N. Rifai
6. P. Ridker
7. S. Tsimikas
8. Peter Libby

In Surgery

1. I. Graham
2. Børge G. Nordestgaard
3. Jan Boren
4. M. Chapman
5. N. Rifai
6. S. Tsimikas
7. Peter Libby
8. P. Ridker

Citations in the corpus

• Fasting is not routinely required for determination of a lipid profile: clinical and laboratory implications including flagging at desirable concentration cut-points—a joint consensus statement from the European Atherosclerosis Society and European Federation of Clinical Chemistry and Laboratory Med (2016, background): “LDL cholesterol in children >4 mmol/L Heterozygous familial hypercholesterolemia with high cardiovascular risk (45)”
• 2016 ESC/EAS Guidelines for the Management of Dyslipidaemias. (2016, background): “3 Familial hypercholesterolaemia in children FH is diagnosed in children based on phenotypic criteria including elevated LDL-C plus a family history of elevated LDL-C, premature CAD and/or positive genetic testing.(303) Testing during childhood is optimal to discriminate between FH and non-FH using ”