Une histoire familiale d’hypercholestérolémie – le rôle de la génétique [A Family History of Hypercholesterolemia - the Role of Genetics]
Details
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Version: Final published version
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State: Public
Version: Final published version
License: Not specified
Serval ID
serval:BIB_5F507B465100
Type
Article: article from journal or magazin.
Publication sub-type
Case report (case report): feedback on an observation with a short commentary.
Collection
Publications
Institution
Title
Une histoire familiale d’hypercholestérolémie – le rôle de la génétique [A Family History of Hypercholesterolemia - the Role of Genetics]
Journal
Praxis
ISSN
1661-8157 (Print)
ISSN-L
1661-8157
Publication state
Published
Issued date
2023
Peer-reviewed
Oui
Volume
112
Number
4
Pages
245-249
Language
french
Notes
Publication types: English Abstract ; Journal Article
Publication Status: ppublish
Publication Status: ppublish
Abstract
A Family History of Hypercholesterolemia - the Role of Genetics Abstract. Genetic testing is rarely used in Switzerland to confirm the clinical diagnosis of familial hypercholesterolemia. However, cascade genetic testing from an index case is recommended by the guidelines. By describing a patient and his family with severe hypercholesterolemia, we discuss the benefits, risks and barriers regarding the implementation of genetics for familial hypercholesterolemia. Family screening with genetic testing could become a standard of care for severe hypercholesterolemia.
Keywords
Humans, Hypercholesterolemia/diagnosis, Hypercholesterolemia/genetics, Cholesterol, LDL, Hyperlipoproteinemia Type II/diagnosis, Hyperlipoproteinemia Type II/genetics, Genetic Testing, Switzerland, Familial hypercholesterolemia, Familiäre Hypercholesterinämie, Hypercholestérolémie familiale, LDL cholesterol, LDL-Cholesterol, LDL-cholestérol, cardiovascular disease, genetic test, genetischer Test, kardiovaskuläre Erkrankung, maladie cardiovasculaire, test génétique
Pubmed
Open Access
Yes
Create date
22/03/2023 8:58
Last modification date
03/05/2023 6:11