Familial Hypercholesterolemia: Real-World Data of 1236 Patients Attending a Czech Lipid Clinic. A Retrospective Analysis of Experience in More than 50 years. Part I: Genetics and Biochemical Parameters

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00064165%3A_____%2F22%3A10442927" target="_blank" >RIV/00064165:_____/22:10442927 - isvavai.cz</a>

Alternative codes found

RIV/00216208:11110/22:10442927

Result on the web

<a href="https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=3ruHXCmTfw" target="_blank" >https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=3ruHXCmTfw</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.3389/fgene.2022.849008" target="_blank" >10.3389/fgene.2022.849008</a>

Result language

angličtina

Original language name

Familial Hypercholesterolemia: Real-World Data of 1236 Patients Attending a Czech Lipid Clinic. A Retrospective Analysis of Experience in More than 50 years. Part I: Genetics and Biochemical Parameters

Original language description

Introduction: The cause of familial hypercholesterolemia (FH) is defect in LDL receptor or familial defect of apolipoprotein B-100 (FDB) or, rarely, defect in proprotein convertase subtilisin/kexin type 9. Identification and treatment of patients with FH improves their prognosis. Our data represent retrospective analysis of 50 years of specialised care in our center.Patients and Methods: A group of 1236 FH patients (841 women, 395 men; 993 study subjects and 243 relatives; mean age 44.8 +/- 16.7 years) included 154 FDB patients followed at the Lipid Clinic of the General University Hospital in Prague since the mid-1960s to the present. Clinical diagnosis was based on the Dutch Lipid Clinic Network Criteria. Genetic analysis was performed using PCR-RFLP to detect FDB and apolipoprotein E (APOE) polymorphism. Biochemical data were collected and statistically analysed.Results: At baseline, mean LDL-C and total cholesterol (TC) levels of all FH patients combined were 6.49 +/- 1.92 mmol/L and 8.95 +/- 1.95 mmol/L, respectively. Their LDL-C levels decreased to 3.26 +/- 1.57 mmol/L and TC levels to 5.43 +/- 1.69 mmol/L during follow-up. In the subgroup of LDL receptor-mediated FH (non-FDB) patients, baseline LDL-C and TC levels of 6.61 +/- 1.95 mmol/L and 9.09 +/- 1.97 mmol/L declined to 3.21 +/- 1.60 mmol/L and 5.39 +/- 1.72 mmol/L, respectively, during follow-up. In the FDB subgroup of patients, baseline levels of LDL-C and TC were 5.57 +/- 1.46 mmol/L and 7.88 +/- 1.58 mmol/L decreasing to 3.45 +/- 0.24 mmol/L and 5.58 +/- 1.37 mmol/L, respectively, during follow-up. Differences were also found in the effects of various APOE isoforms on lipid lowering. A significant decrease in lipid parameters was observed with the E2E2 isoform whereas a minimal decrease was seen with the E4E4 and E3E3 isoforms.Conclusion: Whereas, overall, non-FDB patients had higher baseline lipid levels, these levels declined more appreciably compared with FDB patients during follow-up. Our retrospective analysis also found different effects of APOE isoforms on the decrease in lipid levels.

Czech name

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Czech description

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Type

J_imp - Article in a specialist periodical, which is included in the Web of Science database

CEP classification

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OECD FORD branch

30202 - Endocrinology and metabolism (including diabetes, hormones)

Project

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Continuities

V - Vyzkumna aktivita podporovana z jinych verejnych zdroju

Publication year

2022

Confidentiality

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Name of the periodical

Frontiers in Genetics

ISSN

1664-8021

e-ISSN

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Volume of the periodical

13

Issue of the periodical within the volume

February

Country of publishing house

CH - SWITZERLAND

Number of pages

9

Pages from-to

849008

UT code for WoS article

000770946600001

EID of the result in the Scopus database

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