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.
Study Type
OBSERVATIONAL
Enrollment
17,000
After obtaining written consent from patients, DNA is isolated, and genetic analysis of the know familial hypercholesterolemia disease-causing genes (LDLR, APOB, PCSK9) is performed.
Measurements of lipid levels (total cholesterol, LDL-cholesterol, HDL-cholesterol, TG) using standard methods.
Children's Hospital AUF DER BULT
Hanover, Germany
UMC - University Children's Hospital Ljubljana
Ljubljana, Slovenia
Efficacy of universal familial hypercholesterolemia screening
The investigators aim to assess the overall performance (number of cases per 1000/screened; rate of implementation) of the universal screening for familial hypercholesterolemia.
Time frame: 36 months
Genotype-phenotype correlations in children with familial hypercholesterolemia
The investigators will assess the phenotypic characteristics in relation to genotypes; specificity and sensitivity of genetic analyses will be determined.
Time frame: 36 months
Prevalences of heterozygous and homozygous familial hypercholesterolemia
Number of genetically confirmed cases are compared to the number of live-born children in same period.
Time frame: 36 months
Cost-effectiveness analysis of universal screening for familial hypercholesterolemia
The costs per new genetically confirmed case are estimated considering the costs for all the three steps of the screening algorithm.
Time frame: 36 months
Comparison of universal and pilot familial hypercholesterolemia screening
The investigators aim to compare the common elements of the pilot universal hypercholesterolemia program in Lower Saxony (LS; Germany) to the Slovenian national universal familial hypercholesterolemia screening.
Time frame: 36 months
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