Knowns and unknowns in the care of pediatric familial hypercholesterolemia

Abstract

Familial hypercholesterolemia (FH) is a common genetic disorder that causes elevated LDL cholesterol levels from birth. Untreated FH accelerates atherosclerosis and predisposes individuals to premature coronary artery disease (CAD) in adulthood. Mendelian randomization studies have demonstrated that LDL cholesterol has both a causal and cumulative effect on the risk of CAD. This supports clinical recommendations that children with FH commence pharmacological treatment from the age of 8 to 10 years, to reduce the burden of hypercholesterolemia. Worldwide, the majority of children with FH remain undiagnosed. Recent evidence suggests that the frequency of FH is at least 1 in 250 and this constitutes a public health issue. We review and identify the knowns and unknowns concerning the detection and management of pediatric FH that impact on the developing model of care for this condition.

Parent–child genetic testing for familial hypercholesterolaemia in an Australian context

“…Our study underscores the importance of genetic cascade screening in identifying young affected individuals with FH in an Australian setting. Future research is required to optimise cascade screening, particularly in children, in an efficient and cost‐effective manner, as well as to evaluate other methods of screening …”

“…Although genetic testing was employed, this method for diagnosing FH is currently expensive and not widely available. We only reported on one method of screening for FH in children, and further studies examining the yield, practicality and cost of universal and reverse cascade screening are warranted …”

Reverse cascade screening for familial hypercholesterolemia in high‐risk Chinese families

“…The development of atherosclerosis in childhood in FH mandates an early screening and treatment program . The general approaches to screening for FH in early life involve universal and selective strategies.…”

“…The general approaches to screening for FH in early life involve universal and selective strategies. The former has the potential to detect many affected individuals at an early stage; however, its acceptability and cost utility remains to be demonstrated, particularly in a country as populated and diverse as China . Although universal screening of children and reverse cascade testing of first‐degree relatives has been recommended in FH, and positive experiences have been reported in certain European countries, the approach is not recommended by other international organisations…”

Widening the spectrum of genetic testing in familial hypercholesterolaemia: Will it translate into better patient and population outcomes?

“…The case‐finding and diagnosis of FH in children represents a major challenge, but an opportunity to initiate early therapy and prevent future morbidity . Approaches used in studies of population screening have included the measurement of total or LDL‐cholesterol at the point of immunisation, and in older children as part of broader cardiovascular risk assessment.…”