Illustration of red blood cells moving through clogged artery to indicate cholesterol build up as a result of homozygous familial hypercholesterolemia and atherosclerosis
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Research led by Monash University in Australia and carried out in the Netherlands suggests a nationwide screening program to search for children with familial hypercholesterolemia could be cost effective.

Inherited high cholesterol, known as familial hypercholesterolemia or FH, affects approximately one in every 300 people around the world. The severity of the disorder and associated symptoms vary with some milder and some more severe cases. Around a quarter of FH cases are seen in children and adolescents and tends to be more serious, particularly if the children have inherited pathogenic mutations from both parents.

If people are diagnosed early with FH, preventive medications and lifestyle changes can have a big impact on future heart disease risks. Despite the benefits of early diagnosis, few countries carry out regular screening or health checks for FH.

The Netherlands is one of the few exceptions to this and has been screening for FH in the Dutch population since 1994. Since then, it has detected 26,232 people with heterozygous FH in the population. Through this program 5613 children were identified as being mutation positive via cascade screening.

In this study, Zanfina Ademi, a researcher and assistant professor at Monash, and colleagues carried out an economic analysis using data from the Dutch screening program to estimate cost effectiveness of nationwide FH screening.

As reported in JAMA Pediatrics, the authors compared a strategy of cascade screening and initiation of treatment with cholesterol lowering statins in children with a strategy of no early screening, but later detection, and subsequent treatment.

In a hypothetical scenario of 1000 children with FH, aged 10 years on average, having a nationwide strategy to find cases early was cost effective versus no screening.  The researchers calculated that the program would gain 2.53 quality-adjusted life years (QALYs) per person, at an additional cost of €23,365. The incremental cost-effectiveness ratio for cascade screening and initiation of treatment vs later detection and treatment was €9220 per quality-adjusted life-year gained.

“To our knowledge, this is the first study to demonstrate the return on investment of the Dutch nationwide implementation program for FH case finding in children and early treatment. Every Euro spent on the program resulted in a return of €8.37 ($9.12),” write the authors.

“Our findings highlight the importance of early treatment and prevention, as the atherosclerotic process starts from a young age and may be reversible in childhood.”

The study also demonstrated that this kind of program could be cost effective in other populations, such as in Australia. “The findings suggest that the early detection and treatment program for FH in children offers excellent value for investment, being both health and cost saving and cost-effective from a health care perspective,” conclude the researchers.

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