Identification of people with heterozygous familial hypercholesterolemia
Abstract
Purpose of review Familial hypercholesterolemia is an underdiagnosed autosomal codominant genetic condition associated with significantly increased risk of early cardiovascular disease when untreated. Early diagnosis and treatment decrease the excess risk, and strategies for identification of affected individuals are being developed worldwide. This review will discuss, from a clinician's perspective, some of the issues involved in identifying people with familial hypercholesterolemia. Recent findings Several sets of recommendations have been published outlining the strategies for identification of people with familial hypercholesterolemia in various countries and regions. These include Australasia, Europe, and the USA. Summary Continuing efforts to find the best methods for identification of people with familial hypercholesterolemia are needed to ensure that this very treatable inherited condition is diagnosed early enough to prevent the development of atherosclerotic vascular disease.
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The FH patients used to build the classifier were diagnosed as probable or definite FH using existing diagnostic criteria including genetic testing information when available.
“The FH patients were followed at an FH-specific clinic and had been diagnosed as probable or definite FH using existing diagnostic criteria including genetic testing information when available.5,33–36”
From Finding missed cases of familial hypercholesterolemia in health systems using machine learning (2019) · cites this paper as [33]
The MEDPED criteria are based on age-adjusted cholesterol levels and family pedigree information, with cutoffs designed to identify individuals who would have a causal mutation found on genetic testing.
“The MEDPED criteria are based on age-adjusted cholesterol levels and factor into account family pedigree information (if known) with cutoffs designed to identify individuals who would have a causal mutation found on genetic testing.33”
From Finding missed cases of familial hypercholesterolemia in health systems using machine learning (2019) · cites this paper as [33]
Cites
Lipid screening and cardiovascular health in childhood
Daniels, S. R., Greer, F. R., & and the Committee on Nutrition (2008) · Pediatrics · doi:10.1542/peds.2008-1349 · Cited by 1,178 · see citing works
Familial Hypercholesterolemia: Screening, diagnosis and management of pediatric and adult patients
Goldberg, A. C., Hopkins, P. N., Toth, P. P., Ballantyne, C. M., Rader, D. J., Robinson, J. G., Daniels, S. R., Gidding, S. S., de Ferranti, S. D., Ito, M. K., et al. (2011) · Journal of clinical lipidology · doi:10.1016/j.jacl.2011.03.001 · Cited by 622 · see citing works
Neil, A., Cooper, J., Betteridge, J., Capps, N., McDowell, I., Durrington, P., Seed, M., Humphries, S. E., & on behalf of the Simon Broome Familial Hyperlipidaemia Register Group (2008) · European Heart Journal · doi:10.1093/eurheartj/ehn422 · Cited by 425 · cited 1× · see citing works
“have significantly decreased coronary heart disease events and mortality with statin therapy [4,5].”
BackgroundHuijgen, R., Kindt, I., Verhoeven, S. B. J., Sijbrands, E. J. G., Vissers, M. N., Kastelein, J. J. P., & Hutten, B. A. (2010) · PLoS ONE · doi:10.1371/journal.pone.0009220 · Cited by 124 · see citing works
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National lipid association annual summary of clinical lipidology 2016
Bays, H. E., Jones, P. H., Orringer, C. E., Brown, W. V., & Jacobson, T. A. (2016) · Journal of Clinical Lipidology · doi:10.1016/j.jacl.2015.08.002 · Cited by 128 · see citing works
Finding missed cases of familial hypercholesterolemia in health systems using machine learning
Banda, J. M., Sarraju, A., Abbasi, F., Parizo, J., Pariani, M., Ison, H., Briskin, E., Wand, H., Dubois, S., Jung, K., et al. (2019) · npj Digital Medicine · doi:10.1038/s41746-019-0101-5 · Cited by 123 · see citing works
“The MEDPED criteria are based on ageadjusted cholesterol levels and factor into account family pedigree information (if known) with cutoffs designed to identify individuals who would have a causal mutation found on genetic testing.(33)”
Background
- Authors
- Haase, A., & Goldberg, A. C.
- Affiliations
- Washington University in St. Louis (US)
- Corresponding author
- Goldberg, Anne C.
- ORCID
- Goldberg, Anne C.
- Venue
- Current Opinion in Lipidology
- Published
- 2012-08
- Volume
- 23
- Issue
- 4
- Pages
- 282-289
- ISSN
- 0957-9672 (ISSN-L)
- OpenAlex
- W1986498373
- Cited by
- 63
- References
- 4
- Citations by year
- 2026: 3 · 2025: 1 · 2024: 6 · 2023: 5 · 2022: 3 · 2021: 9 · 2020: 3 · 2019: 7 · 2018: 4 · 2017: 4 · 2016: 5 · 2015: 3 · 2014: 6 · 2013: 2 · 2012: 1
- FWCI
- 0.74
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Current Opinion in Lipidology (publishedVersion)
- PubMed (publishedVersion)
- Funders
- Sanofi
- Regeneron Pharmaceuticals
- National Institutes of Health
- National Institute of Diabetes and Digestive and Kidney Diseases (T32DK007120)
- Topics
- Health Sciences › Medicine › Surgery › Lipoproteins and Cardiovascular Health
- Health Sciences › Medicine › Cardiology and Cardiovascular Medicine › Lipid metabolism and disorders
- Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Diabetes, Cardiovascular Risks, and Lipoproteins
- Keywords
- familial hypercholesterolemia, heterozygous familial hypercholesterolemia, underdiagnosis, identification strategies, cardiovascular risk, atherosclerosis, early diagnosis, screening guidelines
- MeSH terms
- Cost-Benefit Analysis, Genetic Testing, Heterozygote, Humans, Hyperlipoproteinemia Type II, Mass Screening, Practice Guidelines as Topic
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