Une histoire familiale d’hypercholestérolémie – le rôle de la génétique [A Family History of Hypercholesterolemia - the Role of Genetics]
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2023
- doi: 10.1024/1661-8157/a004013
- issn: 1661-8157
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Hypercholesterolemia Cholesteremia CholesterolemiaCiter ce document
C. Podmore et al., « Une histoire familiale d’hypercholestérolémie – le rôle de la génétique [A Family History of Hypercholesterolemia - the Role of Genetics] », Serveur académique Lausannois, ID : 10.1024/1661-8157/a004013
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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.