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The Importance of Genetic Testing for Familial Hypercholesterolemia: A Pediatric Pilot Study
Andreea Teodora Constantin1,2, Corina Delia2,3, Lucia Maria Roșu1,2
1Faculty of Medicine, University of Medicine and Pharmacy "Carol Davila", 020021 Bucharest, Romania.
Insights
Genetic testing for familial hypercholesterolemia (FH) is crucial. Lifestyle changes alone improved lipids in non-FH patients, but FH patients require medication for effective LDL-cholesterol reduction.
Area of Science:
- Cardiology
- Genetics
- Metabolic Disorders
Background:
- Familial hypercholesterolemia (FH) is a prevalent, underdiagnosed genetic disorder.
- FH significantly elevates the risk of premature cardiovascular events.
- Early detection and intervention in childhood are vital for preventing heart attacks and strokes.
Purpose of the Study:
- To evaluate the impact of genetic testing in diagnosing familial hypercholesterolemia.
- To assess the effectiveness of lifestyle and diet recommendations in FH patients.
- To determine the necessity of genetic confirmation for guiding FH treatment strategies.
Main Methods:
- An interventional study involving 10 patients with prior genetic testing for FH.
- Patients received one year of lifestyle and diet recommendations.
- Lipid panels were reevaluated after the intervention period.
Main Results:
- Patients without FH showed significant lipid panel improvements with lifestyle changes alone.
- LDL-cholesterol decreased by 18.5% in genetically negative FH individuals.
- Patients with confirmed FH did not achieve significant LDL-cholesterol reduction without medication.
Conclusions:
- Genetic testing for FH is essential for accurate diagnosis and treatment planning.
- Relying solely on screening algorithms without genetic confirmation can be insufficient.
- Genetic testing guides appropriate therapeutic interventions, distinguishing FH from other hyperlipidemias.
Abstract:
Background and Objectives: Familial hypercholesterolemia (FH) is a genetic disease that is massively underdiagnosed worldwide. Affected patients are at high risk of cardiovascular events at young ages. Early intervention in childhood could help prevent heart attacks and cerebral strokes in these patients. Materials and Methods: We conducted an interventional study including 10 patients that previously underwent genetic testing for familial hypercholesterolemia. These patients received lifestyle and diet recommendations that they followed for a year before being reevaluated. Results: Patients with negative genetic testing were able to achieve lower levels in their lipid panel values compared to the patients with positive genetic testing, with lifestyle changes alone. LDL-cholesterol levels decreased by 18.5% in patients without FH while patients genetically confirmed with FH failed to achieve lower LDL-cholesterol levels without medication. Conclusions: Genetic testing for FH is not always part of screening algorithms for FH. Some studies even advise against it. Our study proved the importance of genetic testing for FH when suspecting this disorder and choosing the treatment course for patients.
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