ESPE Abstracts

Introduction: Familial hypercholesterolaemia (FH) is a frequent (1:300) autosomal dominantly inherited condition which causes premature cardio–cerebrovascular disease (CVD). Early detection and treatment can prevent the development of CVD and premature death. Our pilot study aimed to investigate the feasibility and efficacy of a screening based on a capillary blood test performed during a school medicine visit.

Methods: Information, informed consent form and a questionnaire (4 languages) were sent to families, whose child was scheduled for the school medicine visit. Children (age 7-12 years) who presented with a signed informed consent form were included and a capillary blood test was performed. The result of the lipid panel was transmitted by a letter to the family including an evaluation and recommendation for further actions if the results were altered.

Results: 3733 children were invited to participate, 1826 were included (49%). 29 refused the capillary blood test (1.7%). Median total cholesterol was 158 mg/dl (Q25/75 141/174; P99 230); LDL 74 mg/dl (61/89; 139); HDL 65 mg/dl (56/75). Median BMI SDS was +0.27 (-0.55/1.23), 19.5% were overweight (BMI SDS 1 - ≤2), 10.5% obese (>2 SDS). 22% had at least one parent indicating hypercholesterolemia (HC). 31% of these parents were on lipid-lowering medication (LLM). 19 children with LDL >160 mg/dl and/or TC > 230 mg/dl were invited for a further follow-up. Of these, 3 were obese and lipid panel normalised after weight loss. 5 were false-positive screenings with elevated TC and elevated HDL, but normal LDL. In the sub-cohort of LDL > 160 mg/dl (n = 6), 2 mutations (LDLR, APOB) were confirmed, 1 genetic analysis is ongoing, 3 did refuse a further work-up. We found 3 additionally confirmed family cases (1 ongoing). Confirmed cases received IMT measurement and were started on LLM.

Conclusion: Our pilot study revealed a very good acceptance of the opt-in screening offer (49%), reflecting the quality of the information material and of the capillary blood test. FH screening based on lipid panels is an efficient screening method to detect FH. An LDL Cut-off Level of 160 mg/dl would have covered all genetically confirmed FH cases. As 50% of highly suspicious cases did not accept further follow-up, we advocate for a screening performed in the presence of the parents to discuss the results and explain the further diagnostic work-up in person to them. HC was severely undertreated in the parents of our cohort.