Universal Familial Hypercholesterolemia Screening in Children

Universal Screening for Familial Hypercholesterolemia in Children - a Practical Approach

30 million individuals globally with undiagnosed familial hypercholesterolemia (FH) are at a substantial cardiovascular disease (CVD) risk, which could be normalized by early diagnosis and treatment. Effective screening strategies are urgently needed, but the data on universal FH screening (uFHs) is scarce.

The investigators aim to assess the overall performance of the uFHs program in Slovenia and to compare the common elements to the pilot uFHs program in Lower Saxony (LS; Germany).

The study will include pediatric patients (or their siblings and parents in Slovenian cohort) undergoing the universal hypercholesterolemia screening; those with elevated cholesterol at universal cholesterol screening at primary care level are referred to the lipidology specialist at the UMC Ljubljana (Slovenia) or Kinderkrankenhaus auf der Bult (Lower Saxony, Germany). For those with elevated cholesterol levels, the familial hypercholesterolemia genetic diagnostics is done centrally in UMC Ljubljana.

Only those will be included from whom a signed informed consent by themselves or by their parents/guardians will be obtained prior to the genetic diagnosis of familial hypercholesterolemia.

Inclusion Criteria:

• Elevated total cholesterol (cohort 1) or LDL-cholesterol (cohort 2) at universal screening program in children.
• Completed FH genetic analysis (cohort 3).
• Parent or sibling of child with confirmed familial hypercholesterolemia (cohort 4).

Exclusion Criteria:

• Children with hypercholesterolemia not referred through the screening program.
• FH genetic analysis not completed.