Familial Hypercholesterolemia, Polygenic Hypercholesterolaemia
Conditions
Keywords
familial hypercholesterolemia, FH, screening, universal, cascade, pediatric
Brief summary
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).
Detailed description
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.
Interventions
DIAGNOSTIC_TESTGenetic analysis
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.
DIAGNOSTIC_TESTLipid levels measurement
Measurements of lipid levels (total cholesterol, LDL-cholesterol, HDL-cholesterol, TG) using standard methods.
Sponsors
University Medical Centre Ljubljana
Kinderkrankenhaus auf der Bult
University of Ljubljana, Faculty of Medicine
Study design
Observational model
COHORT
Time perspective
OTHER
Eligibility
Sex/Gender
ALL
Healthy volunteers
No
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.
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Efficacy of universal familial hypercholesterolemia screening | 36 months | The investigators aim to assess the overall performance (number of cases per 1000/screened; rate of implementation) of the universal screening for familial hypercholesterolemia. |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Genotype-phenotype correlations in children with familial hypercholesterolemia | 36 months | The investigators will assess the phenotypic characteristics in relation to genotypes; specificity and sensitivity of genetic analyses will be determined. |
| Prevalences of heterozygous and homozygous familial hypercholesterolemia | 36 months | Number of genetically confirmed cases are compared to the number of live-born children in same period. |
| Cost-effectiveness analysis of universal screening for familial hypercholesterolemia | 36 months | The costs per new genetically confirmed case are estimated considering the costs for all the three steps of the screening algorithm. |
| Comparison of universal and pilot familial hypercholesterolemia screening | 36 months | 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. |
Countries
Germany, Slovenia
Outcome results
None listed