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Published on: September 15, 2018
Biochemical characterisation of familial hypercholesterolemia: Associations between genetic and lipid profiles
Lukač Sandra Singh1, Vladimir Gašić2, Jovana Komazec2
1University Clinical Centre of Serbia, Clinic for Endocrinology, Diabetes and Metabolic Disease, Department for Lipid Disorders and Cardiovascular Complications in Diabetes, Belgrade, Serbia.
Insights
This study on familial hypercholesterolemia (FH) in Serbia found that genetic confirmation of FH is linked to higher ApoB levels. Patients with FH genetic variants were less likely to achieve target LDL-C levels with treatment.
Area of Science:
- Cardiovascular Genetics
- Biochemistry
- Clinical Lipidology
Background:
- Familial hypercholesterolemia (FH) is a genetic disorder characterized by high LDL-C and premature cardiovascular disease risk.
- Understanding the genetic and biochemical profiles of FH patients is crucial for effective management.
- Previous research has not fully elucidated these aspects in the Serbian population.
Purpose of the Study:
- To investigate the genetic background, biochemical profiles, clinical features, and treatment responses in Serbian patients with suspected FH.
- To compare lipid profiles between genetically confirmed FH patients and those without identified FH-related genetic variants.
- To assess the impact of genetic variants on achieving therapeutic LDL-C targets.
Main Methods:
- 101 patients with suspected FH in Serbia were recruited (2015-2023).
- Diagnosis was based on the Dutch Lipid Clinic Network (DLCN) criteria.
- Genetic analysis (next-generation sequencing) and biochemical measurements (lipids, ApoA-I, ApoB, Lp(a)) were performed.
Main Results:
- Genetically confirmed FH patients showed significantly higher ApoB levels compared to variant-negative individuals (p=0.001).
- ApoA-I and Lp(a) levels did not significantly differ between the groups.
- Patients with pathogenic FH variants were less likely to reach target LDL-C levels post-therapy.
Conclusions:
- Biochemical diversity exists in FH patients within the Serbian population, influenced by genetic factors.
- Pathogenic FH mutations correlate with elevated ApoB levels.
- Integrating genetic testing with lipid profiling is vital for accurate FH diagnosis and management.
Background:
Familial hypercholesterolemia (FH) is characterised by elevated low-density lipoprotein cholesterol (LDL-C) levels and an increased risk of premature cardiovascular disease. The present study aimed to investigate the genetic background, associated biochemical profiles, clinical manifestations, and therapeutic response in patients with clinically suspected FH in Serbia.
Methods:
A total of 101 patients with clinically suspected FH were recruited from the Clinic for Endocrinology, Diabetes and Metabolic Diseases in Serbia between 2015 and 2023. Clinical diagnosis was established using the Dutch Lipid Clinic Network (DLCN) criteria. Genetic profiles of all patients were previously determined using next-generation sequencing. Fasting serum lipids, apolipoprotein A-I [ApoA-I], apolipoprotein B [ApoB], and lipoprotein(a) (Lp(a)) were measured enzymatically. Levels of serum lipids were compared between genetically FH-positive (carriers of variants in LDLR, APOB, PCSK9 and LDLRAP1 genes) and FH-negative patients. Therapeutic response was assessed by achieving the LDL-C target level. Statistical analyses were conducted in SPSS (version 30.0).
Results:
Genetically confirmed FH patients exhibited significantly higher levels of ApoB (p=0.001) compared with variant-negative individuals, while ApoA-I (p=0.413) and Lp(a) (p=0.421) levels did not differ significantly between groups. Patients with pathogenic FH-associated variants were less likely to reach target LDL-C levels after therapy than those without identified variants.
Conclusions:
This study demonstrates biochemical diversity in familial hypercholesterolemia associated with genetic background in the Serbian population. Pathogenic FH mutations were associated with higher ApoB levels, underscoring the importance of combining genetic testing with lipid profiling for precise diagnosis and management.
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