European Atherosclerosis Society Consensus Panel Position Paper on Paediatric Familial Hypercholesterolaemia

How to diagnose?

News - May 25, 2015

Identifying and treating children with familial hypercholesterolaemia early saves lives and money

- Worldwide one baby is born with familial hypercholesterolaemia every minute
- Identifying and treating children with familial hypercholesterolaemia early will gain decades of healthy life
- In the European Union, €86 million could be saved each year from heart attacks avoided if relatives – including children - with familial hypercholesterolaemia could be identified early

Familial hypercholesterolaemia (FH), is a common inherited cause of premature heart disease, affecting one in every 200-250 individuals. People with FH have high plasma levels of low-density lipoprotein (LDL) cholesterol (‘bad cholesterol’), which if untreated, increase the risk of heart attack in middle age. This Landmark Position Paper by the European Atherosclerosis Society (EAS) Consensus Panel, published in The European Heart Journal and presented at ISA2015 today, makes the case for renewed efforts to detect and manage FH children so as to reduce the burden of death and disability associated with this common condition.
‘Early heart attack in familial hypercholesterolaemia patients is preventable. As clinicians, we owe it to our patients to identify and treat familial hypercholesterolaemia in children early, so that they can lead a healthy normal life’ – Dr Albert Wiegman, Academic Medical Center, Amsterdam, the Netherlands; joint lead author of the EAS Consensus Panel Position Paper.
The EAS Consensus Panel has made key recommendations relating to the diagnosis, screening, and management of FH.Diagnosis is usually made clinically (phenotypically) based on elevated LDL cholesterol levels (which persist after dietary changes) plus a family history of premature heart disease, and/or by identification of an FH-causing mutation. In most cases, the FH mutation is in the gene coding for the LDL receptor. FH is diagnosed by:
· An LDL cholesterol level ³5 mmol/L (190 mg/dL) at least twice over 3 months indicates a high likelihood of an FH-causing mutation.
· An LDL cholesterol ³4 mmol/L (160 mg/dL) plus a family history of premature heart disease in close relatives and/or baseline high cholesterol in one parent.
· An LDL cholesterol ³3.5 mmol/L (130 mg/dL) in a child with a parent with an FH causing mutation.
· Identifying an FH-causing mutation is the gold standard for diagnosing FH.

How to screen?

‘Physicians need to recognise FH so that they identify all affected family members, including children, and start treatment at an early age.’ says Dr Samuel S, Gidding (A. I. duPont Hospital for Children, Wilmington, Delaware, USA; joint lead author of the EAS Consensus Panel Position Paper).
Because a child of a parent with FH has a 1 in 2 chance of inheriting FH (heterozygous FH), screening of family members is essential. While there are a number of options for screening, the EAS consensus Panel recommends cascade screening of families using a combination of clinical (phenotypic) criteria and genetic testing. If genetic testing is not available, a phenotypic strategy based on country, age and gender-specific LDL cholesterol levels should be used. However, if the parent has a known FH-causing mutation in the LDL receptor gene, genetic testing is the most reliable method to identify affected family members. Boys and girls with suspected heterozygous FH should be screened from the age of 5 years.

How to manage?

Diet and lifestyle underpin the management of FH in children. The Panel recommends limiting foods with saturated fat. A heart-healthy, fat-modified diet (less than 30% of calories from total fat, less than 7% of calories from saturated fat and less than 200 mg of cholesterol/day), such as Mediterranean-style diets, are recommended. Physical activity is also important and smoking is strongly discouraged. Other cardiovascular risk factors should be monitored.
Statins are the cornerstone of drug treatment; the age of starting treatment depends on the individual statin. Patients should start at the lowest dose, increasing the dose according to the LDL cholesterol lowering response. Boys and girls should start treatment at the same age.

The EAS Consensus Panel notes that children with the rare condition of homozygous FH who have very high LDL cholesterol levels (often >13 mmol/L or 500 mg/dL without treatment although lower levels have been recognised), should start treatment at the time of diagnosis. The EAS Consensus Panel has focused on homozygous FH in a previous position paper.
The EAS Consensus Panel recommends a target LDL cholesterol level <3.5 mmol/L (130 mg/dL) from age 10 years, or ideally aiming for 50% reduction from pre-treatment levels for children 8-10 years. Adding other LDL cholesterol lowering treatments, i.e. ezetimibe or a bile-acid sequestrant (resin), may be needed to attain LDL cholesterol goal.

What monitoring is required?

Lipid levels, weight, growth, and physical and sexual development should be monitored. Liver enzymes should be checked every 3 months, glucose (or glycated haemoglobin) every 6 months, and creatine kinase if the patient reports muscle symptoms on a statin. Education of young FH patients, together with regular follow-up is the key to ensuring adherence with treatment. However, if non-adherence remains an issue despite these actions, the patient should be referred to a specialised lipid clinic.
Identifying and treating FH early benefits society

‘Early detection and treatment of children with FH will save lives and money by preventing early heart attacks in early middle age.’ - Professor Gerald F. Watts, University of Western Australia, Perth, Australia, EAS Consensus Panel Writing Group.
There is clear evidence from Europe that cascade testing for FH and starting statin therapy is cost-effective in adults with FH, comparing favourably with other screening strategies such as mammography for breast cancer.

There are so far limited data in children with FH, an evidence gap identified by the EAS Consensus Panel. However, estimates based on the European Union (with an estimated 1,000,000 [to 2,000,000] FH patients) suggest that about €86 million per year could be saved from avoiding early heart attacks and strokes if all relatives of FH patients – including children- were identified and treated optimally over a 55 year period.


Wiegman A, Gidding SS, Watts GF, et al. for the European Atherosclerosis Society Consensus Panel. Familial Hypercholesterolaemia in Children and Adolescents: Gaining Decades of Life by Optimising Detection and Treatment. European Heart Journal 2015 doi:10.1093/eurheartj/ehv157                
Find this article online at Eur Heart J
You may also be interested to read the accompanying Commentary article

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