Genetics, Screening, and Treatment of Familial Hypercholesterolemia: Experience Gained From the Implementation of the Vietnam Familial Hypercholesterolemia Registry

Truong, Thanh‐Huong; Do, Doan‐Loi; Kim, Ngoc‐Thanh; Nguyen, Mai‐Ngoc Thi; Le, Thanh‐Tung; Le, Hong‐An

doi:10.3389/fgene.2020.00914

Cited by 10 publications

(7 citation statements)

References 48 publications

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“…In this study, the prevalence of detected "pathogenic" and "probably pathogenic" mutations was 47.5% among the analyzed probands with a phenotype of familial hypercholesterolemia from the Western Siberia region (Russia) and 85.7% among their tested children who also had a phenotype of familial hypercholesterolemia. As in other studies, this finding confirms the effectiveness of cascade genetic screening [45][46][47][48][49][50].…”

Section: Discussionsupporting

confidence: 91%

Analysis of Rare Variants in Genes Related to Lipid Metabolism in Patients with Familial Hypercholesterolemia in Western Siberia (Russia)

Shakhtshneider

Ivanoshchuk

Тимощенко

et al. 2021

JPM

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The aim of this work was to identify genetic variants potentially involved in familial hypercholesterolemia in 43 genes associated with lipid metabolism disorders. Targeted high-throughput sequencing of lipid metabolism genes was performed (80 subjects with a familial-hypercholesterolemia phenotype). For patients without functionally significant substitutions in the above genes, multiplex ligation-dependent probe amplification was conducted to determine bigger mutations (deletions and/or duplications) in the LDLR promoter and exons. A clinically significant variant in some gene associated with familial hypercholesterolemia was identified in 47.5% of the subjects. Clinically significant variants in the LDLR gene were identified in 19 probands (73.1% of all variants identified in probands); in three probands (11.5%), pathogenic variants were found in the APOB gene; and in four probands (15.4%), rare, clinically significant variants were identified in genes LPL, SREBF1, APOC3, and ABCG5. In 12 (85.7%) of 14 children of the probands, clinically significant variants were detectable in genes associated with familial hypercholesterolemia. The use of clinical criteria, targeted sequencing, and multiplex ligation-dependent probe amplification makes it possible to identify carriers of rare clinically significant variants in a wide range of lipid metabolism genes and to investigate their influence on phenotypic manifestations of familial hypercholesterolemia.

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Section: Discussionsupporting

confidence: 91%

Analysis of Rare Variants in Genes Related to Lipid Metabolism in Patients with Familial Hypercholesterolemia in Western Siberia (Russia)

Shakhtshneider

Ivanoshchuk

Тимощенко

et al. 2021

JPM

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“…These local registries should aware general physicians and cardiologists to identify new cases. Our study revealed that FH relatives has a younger age than FH cases, similar to other studies, so early detection and cascade screening are the most important factors in the management of FH [1,21].…”

Section: Discussionsupporting

confidence: 89%

Familial Hypercholesterolemia (FH) in Iran: Findings from the Four-Year FH Registry

et al. 2021

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Background. Familial hypercholesterolemia (FH) is a common autosomal dominant disease. Its diagnosis in Iran was uncommon. Iran registry of FH (IRFH) has been started from 2017 from Isfahan. In this study, we report the four-year FH registry. Methods. The Iran FH registry is an ongoing study which is followed by a dynamic cohort. It has been started from 2017. The patients are selected from laboratories due to high cholesterol level and who have history of premature cardiovascular disease. The Dutch Lipid Clinic Network (DLCN) criteria are used for the detection of FH. Cascade screening is performed for detection of first-degree relative of patients. Results. Among the 997 individuals included in this registry, they were 522 (mean age 51.41 ± 12.91 year), 141 (mean age 51.66 ± 8.3 year), and 129 (mean age 41 ± 16.5 year) patients from laboratories, premature cardiovascular disease, and relatives, respectively. In total, 263 patients were diagnosed with probable or definite FH, and others were in the possible group. Low-density lipoprotein cholesterol (LDL) level was 141.42 ± 45.27 mg / dl in the laboratory group and 54.9% of patients were on LLT treatment. In patients with premature cardiovascular disease and FH, the LDL level was 91.93 ± 32.58 and was on LLT treatment. The LDL concentration in the first relative of FH patients was 152.88 ± 70.77 and 45.7% of them are on LLT therapy. Conclusions. Most of FH patients were underdiagnosed and undertreated before their inclusion in the IRFH. Cascade screening helps in the improvement of diagnosis.

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“…Некоторые страны только в последнее время акцентировали внимание на этой проблеме и стали создавать регистры пациентов с СГХС в своей популяции (Вьетнам, Турция) [15,20]. Это же касается и России [21].…”

Section: кардиологияunclassified

“…Возможным объяснением этому может быть наличие иных мутаций, отличных от наиболее частых и известных мутаций генов LDLR, PSK9 и APOB100, входящих в стандартные панели генетического тестирования, и невозможность обнаружения новых неизвестных вариантов генов и их мутаций с помощью имеющихся в настоящее время методов исследования [14]. Более того, у представителей разных национальностей определяются свои новые уникальные мутации генов кроме стандартных известных [15,16].…”

Section: Introductionunclassified

Opportunistic screening for familial hypercholesterolemia based on observational registries data analysis

Gaisenok¹

2023

Medicinskij sovet

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Introduction. Early diagnosis of FH is generally low. This leads to the early formation of atherosclerotic cardiovascular diseases (ACVD) and increases the risk of cardiovascular complications in young and middle-aged people. Aim. Identification of HeFH patients using the Dutch Lipid Clinic Network Criteria based on the analysis of electronic databases of two observational registries. Materials and methods. 3,895 persons were selected from 10,606 participants in the Duplex and Laboratory registries based on the presence of TC and LDL-C indicators registered in the databases and the criterion of age up to 60 years. Dutch Lipid Clinic Network Criteria (DCLN) were used as criteria for HeFH: “definite” in the presence of >8 points, “probable” in the presence of 6–8 points, “possible” FH in the presence of 3–5 points. The “definite” and “probable” groups were combined into “potential” FH group. Results. LDL-C levels ≥5 mmol/l and ≥6.5 mmol/l were detected in 8.7% and 0.7% of study participants, respectively. Among them, only 2 patients with DLCN criterion >8 points were identified. Potential FH was found in 13 patients. When recalculated per 100,000, the average prevalence of potential FH was 334/100,000 people (0.33%). Conclusions. Opportunistic screening is an affordable and effective tool in the hands of clinicians to optimize the detection of FH patients. It is advisable to use DCLN criteria, which are optimal as FH criteria. A well-proven method for analyzing electronic databases based on the study of electronic medical records, the use of a “potential” FH model and automated integration of the obtained data can significantly facilitate the task. Studies on larger cohorts of patients are needed to improve the detection of FH among young people.

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Genetics, Screening, and Treatment of Familial Hypercholesterolemia: Experience Gained From the Implementation of the Vietnam Familial Hypercholesterolemia Registry

Cited by 10 publications

References 48 publications

Analysis of Rare Variants in Genes Related to Lipid Metabolism in Patients with Familial Hypercholesterolemia in Western Siberia (Russia)

Analysis of Rare Variants in Genes Related to Lipid Metabolism in Patients with Familial Hypercholesterolemia in Western Siberia (Russia)

Familial Hypercholesterolemia (FH) in Iran: Findings from the Four-Year FH Registry

Opportunistic screening for familial hypercholesterolemia based on observational registries data analysis

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