Expanded genetic testing in familial hypercholesterolemia-A single center's experience.
Am J Prev Cardiol
; 18: 100683, 2024 Jun.
Article
em En
| MEDLINE
| ID: mdl-38828125
ABSTRACT
Objective:
Assess the yield of genetic testing for pathogenic variants in ABCG5, ABCG8, LIPA, and APOE in individuals with personal and family histories suggestive of familial hypercholesterolemia.Methods:
Retrospective review of patients seen in the Advanced Lipid Disorders Clinic at Johns Hopkins.Results:
In the lipid clinic at a single center during the years 2015-2023, 607 patients underwent genetic testing for familial hypercholesterolemia, of which 263 underwent the expanded genetic testing for sitosterolemia. Eighty-eight patients had genetic testing which included APOE, and 22 patients had testing which included LIPA. Among these, one patient was identified to have a pathogenic variant in APOE and another patient with a pathogenic variant in ABCG5 (0.7 % yield). The frequency of a positive result was double that of a variant of uncertain significance.Conclusion:
These data suggest in rare cases expanded testing can provide answers for patients and families with a minimal likelihood of a variant of uncertain significance.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Idioma:
En
Revista:
Am J Prev Cardiol
Ano de publicação:
2024
Tipo de documento:
Article
País de afiliação:
Estados Unidos