Genetic Counseling and Genetic Testing for Familial Hypercholesterolemia
Familial hypercholesterolemia (FH) is one of the most common autosomal codominant Mendelian diseases. The major complications of FH include tendon and cutaneous xanthomas and coronary artery disease (CAD) associated with a substantial elevation of serum low-density lipoprotein levels (LDL). Genetic...
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| Format: | Article |
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MDPI AG
2024-02-01
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| Series: | Genes |
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| Online Access: | https://www.mdpi.com/2073-4425/15/3/297 |
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| author | Hayato Tada Masa-aki Kawashiri Atsushi Nohara Tomoko Sekiya Atsushi Watanabe Masayuki Takamura |
| author_facet | Hayato Tada Masa-aki Kawashiri Atsushi Nohara Tomoko Sekiya Atsushi Watanabe Masayuki Takamura |
| author_sort | Hayato Tada |
| collection | DOAJ |
| description | Familial hypercholesterolemia (FH) is one of the most common autosomal codominant Mendelian diseases. The major complications of FH include tendon and cutaneous xanthomas and coronary artery disease (CAD) associated with a substantial elevation of serum low-density lipoprotein levels (LDL). Genetic counseling and genetic testing for FH is useful for its diagnosis, risk stratification, and motivation for further LDL-lowering treatments. In this study, we summarize the epidemiology of FH based on numerous genetic studies, including its pathogenic variants, genotype–phenotype correlation, prognostic factors, screening, and usefulness of genetic counseling and genetic testing. Due to the variety of treatments available for this common Mendelian disease, genetic counseling and genetic testing for FH should be implemented in daily clinical practice. |
| first_indexed | 2024-04-24T18:15:14Z |
| format | Article |
| id | doaj.art-e9be56822e4b4d5cb3776e2df6b41220 |
| institution | Directory Open Access Journal |
| issn | 2073-4425 |
| language | English |
| last_indexed | 2024-04-24T18:15:14Z |
| publishDate | 2024-02-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Genes |
| spelling | doaj.art-e9be56822e4b4d5cb3776e2df6b412202024-03-27T13:42:59ZengMDPI AGGenes2073-44252024-02-0115329710.3390/genes15030297Genetic Counseling and Genetic Testing for Familial HypercholesterolemiaHayato Tada0Masa-aki Kawashiri1Atsushi Nohara2Tomoko Sekiya3Atsushi Watanabe4Masayuki Takamura5Division of Cardiovascular Medicine, Kanazawa University Graduate School of Medicine, Kanazawa 920-8640, JapanDepartment of Internal Medicine, Kaga Medical Center, Kaga 922-8522, JapanDepartment of Clinical Genetics, Ishikawa Prefectural Central Hospital, Kanazawa 920-8530, JapanDivision of Clinical Genetics, Kanazawa University Hospital, Kanazawa 920-8641, JapanDivision of Clinical Genetics, Kanazawa University Hospital, Kanazawa 920-8641, JapanDivision of Cardiovascular Medicine, Kanazawa University Graduate School of Medicine, Kanazawa 920-8640, JapanFamilial hypercholesterolemia (FH) is one of the most common autosomal codominant Mendelian diseases. The major complications of FH include tendon and cutaneous xanthomas and coronary artery disease (CAD) associated with a substantial elevation of serum low-density lipoprotein levels (LDL). Genetic counseling and genetic testing for FH is useful for its diagnosis, risk stratification, and motivation for further LDL-lowering treatments. In this study, we summarize the epidemiology of FH based on numerous genetic studies, including its pathogenic variants, genotype–phenotype correlation, prognostic factors, screening, and usefulness of genetic counseling and genetic testing. Due to the variety of treatments available for this common Mendelian disease, genetic counseling and genetic testing for FH should be implemented in daily clinical practice.https://www.mdpi.com/2073-4425/15/3/297familial hypercholesterolemiaLDLgeneticsgenetic counselinggenetic testing |
| spellingShingle | Hayato Tada Masa-aki Kawashiri Atsushi Nohara Tomoko Sekiya Atsushi Watanabe Masayuki Takamura Genetic Counseling and Genetic Testing for Familial Hypercholesterolemia Genes familial hypercholesterolemia LDL genetics genetic counseling genetic testing |
| title | Genetic Counseling and Genetic Testing for Familial Hypercholesterolemia |
| title_full | Genetic Counseling and Genetic Testing for Familial Hypercholesterolemia |
| title_fullStr | Genetic Counseling and Genetic Testing for Familial Hypercholesterolemia |
| title_full_unstemmed | Genetic Counseling and Genetic Testing for Familial Hypercholesterolemia |
| title_short | Genetic Counseling and Genetic Testing for Familial Hypercholesterolemia |
| title_sort | genetic counseling and genetic testing for familial hypercholesterolemia |
| topic | familial hypercholesterolemia LDL genetics genetic counseling genetic testing |
| url | https://www.mdpi.com/2073-4425/15/3/297 |
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