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Pediatric cholesterol screening: missed opportunities
1Lipid-Heart Research Center, Division of Gastroenterology and Nutrition, Children's Hospital of Philadelphia, Pennsylvania, USA.
Insights
Many adults are unaware of their hypercholesterolemia until a heart attack. Screening all family members of hypercholesterolemic children is crucial for early diagnosis and intervention, preventing fatal outcomes.
Area of Science:
- Cardiology
- Genetics
- Public Health
Background:
- Current childhood cholesterol screening guidelines rely on family history.
- Many adults remain unaware of their hypercholesterolemia, leading to potential fatal cardiovascular events.
- Inherited hyperlipidemia often goes undiagnosed in adults without prior awareness.
Purpose of the Study:
- To evaluate the prevalence of heritable hyperlipidemia in children and their families.
- To assess the effectiveness of current screening recommendations.
- To highlight the importance of family-wide lipid profiling for early detection.
Main Methods:
- Reviewed family histories of 256 children referred for hypercholesterolemia.
- Obtained lipoprotein profiles for immediate family members of these children.
- Analyzed diagnostic data for inherited hyperlipidemia in children and parents.
Main Results:
- 89 parents had unsuspected hypercholesterolemia; 38 died of myocardial infarction.
- 83 children without a family history were diagnosed with inherited hyperlipidemia.
- A significant percentage of children with inherited hyperlipidemia were identified only through family screening.
Conclusions:
- Many adults are unaware of their hypercholesterolemia and its risks.
- Screening all family members of hypercholesterolemic children is essential for comprehensive diagnosis.
- Pediatricians and practitioners should encourage cholesterol screening in all adults to align with NCEP guidelines.
Abstract:
The current recommendations for childhood cholesterol screening include screening children in whom 1) a parent/grandparent has premature heart or vascular disease or died suddenly; 2) a parent has an abnormal lipid profile; 3) the family history is unobtainable. Over a 3-year period, 256 children referred for hypercholesterolemia were evaluated for heritable hyperlipidemia. We reviewed their family histories and obtained lipoprotein profiles of all of their immediate family members. Of these families, 89 parents had unsuspected hypercholesterolemia of whom 38, whose average age was 36 years, died of a myocardial infarction. In addition, 83 children with no family history of premature coronary artery disease or hypercholesterolemia, were diagnosed with inherited hyperlipidemia (25 with hetrozygous familial hypercholesterolemia, and 58 with familial combined hyperlipidemia). Thus, many adults have no awareness of hyperlipidemia prior to a fatal heart attack, nor of their children as having hyperlipidemia, and a large percentage of children with inherited hyperlipidemia would not have been diagnosed if all of their immediate family members (parents and siblings) had not been screened for a complete lipid profile. These results suggest that in addition to screening, all family members of hypercholesterolemic children, pediatricians and family practitioners should urge parents who may be unaware of their cholesterol levels or have no knowledge of their family history to undergo cholesterol screening in order to comply with NCEP guidelines calling for serum cholesterol measurements in all adults above the age of twenty.