Genetic heterogeneity of familial hypercholesterolaemia in two populations from two different countries.
Eur J Intern Med
; 123: 65-71, 2024 May.
Article
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| MEDLINE
| ID: mdl-38245461
ABSTRACT
BACKGROUND:
Familial hypercholesterolemia (FH) is a genetically determined monogenic disorder of predominantly autosomal dominant inheritance. A number of studies on differences in the genetic profile of patients with FH have demonstrated the importance of a more substantive evaluation of genetic features. The aim of this study was to evaluate the genetic profile of patients with clinical FH among Italian and Russian patients.METHODS:
We included 144 Italian and 79 Russian FH patients; clinical diagnosis was based on the same criteria. Patients were divided in positive to genetic test (one causative variant), inconclusive (only variants of uncertain clinical significance [VUS]), and negative (with likely benign/benign variants, heterozygous variants in LDLRAP1 gene, or without causative variants).RESULTS:
The genetic test was positive in 76.4 % of the Italian patients and in 49.4 % of the Russian patients. The presence of VUS alone was detected in 7.6 % and in 19.0 % (p < 0.001), respectively. Among patients with positive genetic diagnosis, pre-treatment LDL-C levels were higher in the Russian cohort (353.5 ± 111.3 vs. 302.7 ± 52.1 mg/dL, p = 0.009), as well as the percentage of treated patients (53.8 % vs. 14.5 %, p < 0.001) and the prevalence of premature coronary heart disease (12.8 % vs. 3.6 %, p = 0.039). Among patients carrying only VUS, mean pre-treatment LDL-C levels were similar between the cohorts (299.5 ± 68.1 vs. 295.3 ± 46.8 mg/dL, p = 0.863). Among pathogenic/likely pathogenic variants and VUS, only 5 % and 4 % was shared between the two cohorts, respectively.CONCLUSION:
The genetic background of patients clinically diagnosed with FH in two different countries is characterized by high variability.Palabras clave
Texto completo:
1
Base de datos:
MEDLINE
Asunto principal:
Pruebas Genéticas
/
Hiperlipoproteinemia Tipo II
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LDL-Colesterol
Tipo de estudio:
Risk_factors_studies
País/Región como asunto:
Asia
/
Europa
Idioma:
En
Revista:
Eur J Intern Med
Asunto de la revista:
MEDICINA INTERNA
Año:
2024
Tipo del documento:
Article