KSAT-TV, an ABC-affiliate station in San Antonio, Texas, recently shared the story of seven-year old Avery Watts, a seemingly healthy girl whose LDL-cholesterol was 800 mg/dl. Avery has homozygous familial hypercholesterolemia, a rare, and the most severe form of familial hypercholesterolemia. Although she may not show signs of it, she is at risk for premature cardiovascular disease, including heart attack and stroke. Screening, using cholesterol or lipid tests, is key to the diagnosis of this life-threatening disorder.
Avery’s mother, Michelle, told the news outlet, “Absolutely talk to your doctor about getting tested; it could change your children’s life, it could change your life; it definitely changed our entire family’s life in the past year.”
Pediatric lipid screening aims to identify children and adolescents with abnormal cholesterol. This identifies children with more severe, genetic cases like Avery, and those with mild to moderate elevations due to secondary reasons such as low-activity lifestyle and high fat diet. The latest data from the National Health and Nutrition Examination Survey shows that one in five US children have unhealthy cholesterol, with even greater numbers in overweight and obese youth.
Current guidelines, sponsored by the National Heart Lung Blood Institute (NHLBI), call for targeted screening in children age 2 years and older who have a positive or unknown family history of cholesterol-related cardiovascular disease or other major risk factors, and for universal screening in those aged 9-11 years and then again between 17-21 years.
Despite the beneficial impact on children with undiagnosed familial hypercholesterolemia and the availability of screening guidelines, reports show that overall pediatric screening rates are low. This may be related to the controversy surrounding the recommendations for universal testing. However, it remains concerning that even though rates in higher risk children who meet targeted screening criteria are better than those overall, they are still well below that expected. This suggests we still need strategies to increase the number of children being tested, whether or not providers endorse the universal screening recommendations.
A pediatrician colleague, Dr. Nita Mohanty, and I have previously provided our perspective on this issue. We are optimistic that screening rates will improve. The perceived difficulties of adding screening to already busy doctors’ office workflows are considered a primary barrier to implementing current recommendations. But other things may also be hampering broad adoption. A survey conducted with doctors indicated limited physician awareness of recommendations and concern over appropriate interpretation and management of increased numbers of patients with abnormal cholesterol.
We urge laboratories to consider the following opportunities to help providers faced with implementing pediatric lipid screening recommendations:
1.Develop a dialogue with pediatric providers about lipid screening.
2. Universal lipid screening in children is controversial. However, improved education about current guidelines is needed among both pediatric providers and laboratorians.
3. Facilitate the use of non-fasting lipid panels and report non-HDL-C. Non-fasting, non-HDL-C is recommended by the NHLBI expert panel as the first tier approach for universal screening. Despite this, non-HDL-C is likely underutilized in pediatric lipid screening. Facilitating provider adoption of non-fasting screening may decrease missed screening opportunities and eliminate challenges associated with obtaining fasting labs in children.
5. Report pediatric lipid test results with age-appropriate, evidence-based cutoffs. Lipid tests in children should be reported with appropriate age-specific cutoffs, per the National Cholesterol Education Program and as described in the NHLBI 2011 guidelines. Lipid target ranges in children differ from those in adults, with the exception of HDL. Auditing lipid reference range information available via online laboratory test catalogs from several laboratories demonstrates use of adult cutoffs for all ages is a common practice, suggesting significant improvement is needed in this area.
5. Report pediatric lipid test results with guideline-based comments for decision making. Providing interpretation guidance with recommended next steps, including easily identifying patients with lab values requiring an intensified level of care, would be of value to primary care providers, as this may aid in decision making and adherence to current recommendations for patient management.
6. Support implementation of point-of-care lipid testing. Many pediatric practices are implementing point-of-care lipid testing to improve screening workflows. Studies conducted in adults show that the devices available in the U.S. may not meet recommended assay performance criteria for imprecision and bias, but may be suitable for screening purposes. Laboratorians should act as a resource to primary care providers by defining best practices in the evaluation and implementation of testing, while creating awareness of the common limitations and sources of error in such measurements.