AI Article Synopsis
- - Familial hypercholesterolemia (FH) is a common inherited condition that leads to very high levels of low-density lipoprotein (LDL) cholesterol, increasing the risk of serious health issues like coronary artery disease and skin/xanthomas.
- - Genetic counseling and testing are important for diagnosing FH, assessing risks, and guiding effective LDL-lowering treatments.
- - The study reviews the existing research on FH, covering its genetic underpinnings, symptoms, and the critical role of genetic services in daily healthcare practice.
Article Abstract
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.
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Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10970256 | PMC |
| http://dx.doi.org/10.3390/genes15030297 | DOI Listing |
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