Efficacy of Screening Children for Familial Hypercholesterolemia

Testing for cholesterol levels and DNA mutations during routine pediatric care was feasible and effective in identifying children with familial hypercholesterolemia.

Early detection of familial hypercholesterolemia (FH) in children may provide an opportunity to reduce the development of long-term cardiovascular disease.

To examine the efficacy of child–parent screening for FH, investigators in the United Kingdom prospectively assessed blood total cholesterol, low-density lipoprotein, and triglyceride levels and FH-associated mutations in 10,095 children (aged 1–2 years) during a routine immunization visit. When elevated cholesterol levels were identified, blood studies were repeated 3 months later and patients' parents were also screened.

Ninety-two children had a high cholesterol level, defined as ≥1.53 multiples of the median (MoM) cholesterol level, corresponding to a percentile of 99.2. Of these child…

Reviewing Author

F. Bruder Stapleton, MD

Disclosures

Consultant/Advisory BoardCareer Physician

Editorial BoardsUpToDate

Leadership Positions in Professional SocietiesAmerican Society of Pediatric Nephrology Foundation (Chair)

F. Bruder Stapleton, MD

Disclosures

Consultant/Advisory BoardCareer Physician

Editorial BoardsUpToDate

Leadership Positions in Professional SocietiesAmerican Society of Pediatric Nephrology Foundation (Chair)

Efficacy of Screening Children for Familial Hypercholesterolemia

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Reviewing Author