Imperial College London
Miss Kanika Dharmayat

MissKanikaDharmayat

Faculty of Medicine, School of Public Health

Research Assistant
 
 
 
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Contact

 

+44 (0)20 7594 9988kanika.dharmayat13

 
 
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Location

 

Reynolds BuildingCharing Cross Campus

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Summary

 

Publications

Citation

BibTex format

@article{Brandts:2020:10.1097/MOL.0000000000000675,
author = {Brandts, J and Dharmayat, KI and Ray, KK and Vallejo-Vaz, AJ},
doi = {10.1097/MOL.0000000000000675},
journal = {Current Opinion in Lipidology},
pages = {111--118},
title = {Familial hypercholesterolemia: is it time to separate monogenic from polygenic familial hypercholesterolemia?},
url = {http://dx.doi.org/10.1097/MOL.0000000000000675},
volume = {31},
year = {2020}
}
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RIS format (EndNote, RefMan)

TY  - JOUR
AB  - PURPOSE OF REVIEW: This review explores the concepts of monogenic and the so-called polygenic familial hypercholesterolemia and how the identification of familial hypercholesterolemia as a monogenic condition and its separation from polygenic primary hypercholesterolemia may have implications for clinical practice. RECENT FINDINGS: Through genetic testing, a mutation in any of the three known autosomal dominant familial hypercholesterolemia-causing genes is found in 60-80% of cases with a clinical diagnosis of definite familial hypercholesterolemia. As individuals with a polygenic basis for their hypercholesterolemia do not follow the same inheritance pattern observed in monogenic familial hypercholesterolemia, the use of family-based cascade screening in individuals with a polygenic origin is not recommend, as only 30% of relatives have an elevated LDL-C compared to the 50% in monogenic families. The presence of a causative monogenic mutation associates the highest cardiovascular risk vs. not having a mutation or having a polygenic background, providing prognostic information independent of LDL-C. It may also help assess intensity of interventions. Treatment adherence also seems to be higher after monogenic confirmation of hypercholesterolemia. SUMMARY: Knowledge about the genetic status of an individual with clinical familial hypercholesterolemia (monogenic vs. polygenic) can provide a more informed understanding to evaluating risk, managing disease and opportunities for screening strategies.
AU  - Brandts,J
AU  - Dharmayat,KI
AU  - Ray,KK
AU  - Vallejo-Vaz,AJ
DO  - 10.1097/MOL.0000000000000675
EP  - 118
PY  - 2020///
SN  - 0957-9672
SP  - 111
TI  - Familial hypercholesterolemia: is it time to separate monogenic from polygenic familial hypercholesterolemia?
T2  - Current Opinion in Lipidology
UR  - http://dx.doi.org/10.1097/MOL.0000000000000675
UR  - https://www.ncbi.nlm.nih.gov/pubmed/32332432
UR  - https://journals.lww.com/co-lipidology/FullText/2020/06000/Familial_hypercholesterolemia__is_it_time_to.2.aspx
UR  - http://hdl.handle.net/10044/1/78985
VL  - 31
ER  -
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