Child-parent cascade screening for familial hypercholesterolemia in Slovenia: Insights from the pilot program
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View abstract on PubMed
Summary
This summary is machine-generated.Child-parent cascade screening for familial hypercholesterolemia (FH) is effective in identifying affected parents. This approach aids early diagnosis and may reduce cardiovascular disease (CVD) risk in families.
Area Of Science
- Genetics
- Cardiovascular Disease
- Public Health
Background
- Familial hypercholesterolemia (FH) is an inherited condition leading to high cholesterol and increased cardiovascular disease (CVD) risk.
- Cascade screening of relatives is crucial for early FH diagnosis and CVD prevention.
- A pilot child-parent screening program was implemented in Slovenia.
Purpose Of The Study
- To evaluate the feasibility and success rate of a child-parent cascade screening program for FH.
- To assess the prevalence of CVD in parents diagnosed through this program.
Main Methods
- 138 parents from 123 families with an index child diagnosed with FH were enrolled.
- Genetic testing (Sanger sequencing) identified pathogenic variants previously confirmed in the index child.
- Parents were screened, prioritizing those with higher cholesterol levels.
Main Results
- A high success rate (77.2%) in identifying pathogenic variants was achieved when screening the first parent.
- The variant detection rate reached 99.1% when both parents were tested or the variant was found in the first parent.
- Parents diagnosed via the program showed a lower prevalence of CVD compared to those with a prior clinical diagnosis.
Conclusions
- The child-parent cascade screening program for FH is feasible and highly successful in identifying affected parents.
- Early diagnosis through this program may be associated with a lower prevalence of CVD.
- Larger studies are needed to confirm these preliminary findings.
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