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Cascade Screening in Adolescents with Lipid Disorders Suggestive of Familial Hypercholesterolemia: Findings from the
Vivian Freitas Rezende Bento1, Tatiana Lorena da Luz Kaestner1, Amauri de Vargas Junior1
1Pontifícia Universidade Católica do Paraná, Curitiba, PR - Brasil.
Insights
Cascade screening identified potential familial hypercholesterolemia (FH) cases in relatives of adolescents with high LDL cholesterol. While FH was not confirmed in the students, 20% of relatives showed signs of possible/probable FH.
Area of Science:
- Cardiovascular Genetics
- Pediatric Lipidology
- Public Health Screening
Background:
- Familial hypercholesterolemia (FH) is a genetic disorder causing premature coronary heart disease due to elevated LDL cholesterol (LDL-C).
- Early FH diagnosis is crucial for effective treatment and cardiovascular risk reduction.
- Cascade screening is the recommended strategy for identifying FH in families after an index case is found.
Purpose of the Study:
- To determine the prevalence of lipid disorders indicative of FH in adolescents (12-17 years) in Curitiba via the ERICA study.
- To ascertain the prevalence of FH among these adolescents and their first-degree relatives using cascade screening and clinical/laboratory criteria.
Main Methods:
- Adolescents with LDL-C > 160 mg/dL or non-HDL cholesterol > 190 mg/dL were identified from the ERICA study cohort.
- First-degree relatives of identified adolescents were recruited for cascade screening.
- The DUTCH MedPed criteria were used for clinical diagnosis of possible/probable FH.
Main Results:
- Out of 2,383 adolescents, 11 (1:216) exhibited lipid profiles suggestive of FH.
- None of the evaluated adolescents met the criteria for possible FH based on the clinical score.
- Cascade screening identified possible/probable FH in 3 out of 15 assessed first-degree relatives (20%).
Conclusions:
- The DUTCH MedPed clinical score demonstrated limitations in confirming FH in adolescents with suggestive lipid profiles.
- Cascade screening proved effective in identifying potential FH cases among first-degree relatives of adolescents with dyslipidemia.
- This highlights the importance of family-based screening for FH diagnosis, even when initial adolescent screening is inconclusive.
Background:
Familial hypercholesterolemia (FH) is a common genetic cause of premature coronary heart disease due to prolonged exposure to high levels of LDL cholesterol (LDL-C). Its prevalence in the heterozygous form ranges from 1:200 to 1:500, and early diagnosis is fundamental for treatment and risk reduction. Cascade screening is recommended upon the identification of index cases.
Objectives:
To assess the prevalence of lipid disorders suggestive of FH in students aged 12 to 17 years participating in the ERICA study in Curitiba and to determine the prevalence of FH based on clinical and laboratory criteria in these adolescents and their first-degree relatives undergoing cascade screening.
Methods:
Using data from the ERICA study, adolescents with LDL-C levels > 160 mg/dL or non-HDL cholesterol > 190 mg/dL were identified, along with their first-degree relatives. The clinical diagnosis of the study participants was based on the DUTCH MedPed criteria. Statistical significance was defined as P < 0.05.
Results:
Eleven adolescents with lipid disorders suggestive of FH were identified among the 2,383 evaluated (1:216). Of these, 7 students and 15 first-degree relatives were assessed. None of the adolescents had a diagnosis of possible FH confirmed by the clinical score. However, 3 family members (20%) were diagnosed with possible/probable FH.
Conclusion:
Although the clinical score application did not confirm any cases among adolescents with lipid disorders suggestive of FH, indicating a limitation of the diagnostic method in this population, cascade screening identified potential cases in first-degree relatives.
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