Early Childhood Screening Helps Prevent Heart Attacks

Familial hypercholesterolemia (FH) is a genetic disorder characterized by high cholesterol levels and is the main inherited cause of early heart disease and without preventive medication young FH adults has about a 10-fold increased risk of a heart attack before the age of 40.

Population-based child–parent screening has been proposed to detect familial hypercholesterolemia, as the method screens two generations; the child provides the screening entry point, at an age when the measurement of cholesterol is most discriminatory.


A team of medical scientists collaborating with those at the Queen Mary University of London (UK) obtained capillary blood samples to measure cholesterol levels and to test for familial hypercholesterolemia mutations in 10,095 children one to two years of age during routine immunization visits. Children were considered to have positive screening results for familial hypercholesterolemia if their cholesterol level was elevated and they had either a familial hypercholesterolemia mutation or a repeat elevated cholesterol level three months later.

Total cholesterol level, high-density lipoprotein cholesterol levels, and triglyceride levels were measured with the use of the Cholestech LDX point-of-care analyzer (Alere Inc, Waltham, MA, USA). All the children were tested for 48 familial hypercholesterolemia mutations (FH48) including the most common 46 LDL receptor (LDLR) mutations that were identified Genetics between 2001 and 2010 in patients who underwent DNA analysis for suspected familial hypercholesterolemia. DNA was extracted with the use of the QuickGene-810 from approximately 200 μL of blood and was analyzed by means of TaqMan single-nucleotide polymorphism (SNP) genotyping on the Biomark platform.

Of the 10,059 children that were tested for high cholesterol and FH genetic mutations, 40 were found to be FH positive. Once an FH positive child was found, the parents were then contacted for screening, revealing an additional FH positive parent. Overall, one person at high risk of early heart attack was identified for every 125 people tested. The child-parent screening strategy identifies children and their parents together so that early preventive action can be taken. Medication, including statins, can be started immediately in the parents and in children as teenagers, and advice can be given on sensible diets and avoidance of smoking.

Nicholas J. Wald, FRS, a professor and Preventive Medicine and senior author of the study said, “This is an example of an effective screening strategy being combined with routine vaccination, which has clear advantages. No extra clinic visits are needed and uptake is high because parents are already focused on the future health of their children and the family as a whole. The one-stop service requires no new clinical infrastructure and is simple and inexpensive to implement.” The study was published on October 27, 2016, in the New England Journal of Medicine.

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Queen Mary University of London
Alere