The DOI matches its Crossref record; 120 of the 120 references it cites were found in a registry or an index.
Clinical Genetic Testing for Familial Hypercholesterolemia
Open accessAbstract
Although awareness of familial hypercholesterolemia (FH) is increasing, this common, potentially fatal, treatable condition remains underdiagnosed. Despite FH being a genetic disorder, genetic testing is rarely used. The Familial Hypercholesterolemia Foundation convened an international expert panel to assess the utility of FH genetic testing. The rationale includes the following: 1) facilitation of definitive diagnosis; 2) pathogenic variants indicate higher cardiovascular risk, which indicates the potential need for more aggressive lipid lowering; 3) increase in initiation of and adherence to therapy; and 4) cascade testing of at-risk relatives. The Expert Consensus Panel recommends that FH genetic testing become the standard of care for patients with definite or probable FH, as well as for their at-risk relatives. Testing should include the genes encoding the low-density lipoprotein receptor (LDLR), apolipoprotein B (APOB), and proprotein convertase subtilisin/kexin 9 (PCSK9); other genes may also need to be considered for analysis based on patient phenotype. Expected outcomes include greater diagnoses, more effective cascade testing, initiation of therapies at earlier ages, and more accurate risk stratification.
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Self-citationMutations in PCSK9 cause autosomal dominant hypercholesterolemia
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Metadata
- Authors
- Sturm, A. C., Knowles, J. W., Gidding, S. S., Ahmad, Z. S., Ahmed, C. D., Ballantyne, C. M., Baum, S. J., Bourbon, M., Carrié, A., Cuchel, M., de Ferranti, S. D., Defesche, J. C., Freiberger, T., Hershberger, R. E., Hovingh, G. K., Karayan, L., Kastelein, J. J. P., Kindt, I., Lane, S. R., Leigh, S. E., Linton, M. F., Mata, P., Neal, W. A., Nordestgaard, B. G., Santos, R. D., Harada-Shiba, M., Sijbrands, E. J., Stitziel, N. O., Yamashita, S., Wilemon, K. A., Ledbetter, D. H., & Rader, D. J.
- Venue
- Journal of the American College of Cardiology
- Publisher
- Elsevier BV
- Published
- 2018-08
- Volume
- 72
- Issue
- 6
- Pages
- 662-680
- ISSN
- 0735-1097 (ISSN-L)
- OpenAlex
- W2887629426
- Cited by
- 615
- References
- 120
- FWCI
- 51.61
- Type
- journal article
- Language
- en
- Open access
- bronze
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- The paper
- Sturm, A. C., Knowles, J. W., Gidding, S. S., Ahmad, Z. S., Ahmed, C. D., Ballantyne, C. M., Baum, S. J., Bourbon, M., Carrié, A., Cuchel, M., de Ferranti, S. D., Defesche, J. C., Freiberger, T., Hershberger, R. E., Hovingh, G. K., Karayan, L., Kastelein, J. J. P., Kindt, I., Lane, S. R., . . . Rader, D. J. (2018). Clinical Genetic Testing for Familial Hypercholesterolemia. Journal of the American College of Cardiology. https://doi.org/10.1016/j.jacc.2018.05.044
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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.
