Imperial College London
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DrAlessiaDavid

Faculty of Natural Sciences, Department of Life Sciences

Lecturer in Bioinformatics and Data Intensive Biology
 
 
 
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Contact

 

+44 (0)20 7594 5333alessia.david09

 
 
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Location

 

Department of BioinformaticsSir Ernst Chain BuildingSouth Kensington Campus

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Summary

 

Publications

Citation

BibTex format

@inproceedings{David:2018:10.1016/j.atherosclerosissup.2018.07.034,
author = {David, A and Cegla, J and Walji, S and Jones, B and Haboosh, S and De, Lorenzo F and Scott, J and Thompson, GR},
doi = {10.1016/j.atherosclerosissup.2018.07.034},
pages = {E7--E7},
publisher = {Elsevier},
title = {Hypercholesterolemia with low versus high likelihood of polygenic origin: a single centre experience},
url = {http://dx.doi.org/10.1016/j.atherosclerosissup.2018.07.034},
year = {2018}
}
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RIS format (EndNote, RefMan)

TY  - CPAPER
AB  - Introduction: A large proportion of patients that meet Simon Broome diagnostic criteria for Familial Hypercholesterolemia (FH) have no single-gene mutations (FH-negative patients) and an LDL-C SNP score suggestive of a low likelihood of hypercholesterolemia (HC) of polygenic origin. In these patients, unknown genetic causes of FH may be present. Aims: to compare the clinical characteristics of: 1) FH-negative versus FH-positive patients and 2) FH-negative patients with high versus low likelihood of polygenic (LPg) HC.Methods: Genetic data, lipid profile, history of cardiovascular events (CVE) and family history of CVE were obtained in 109 index cases (age range 17-81years) with a clinical diagnosis of possible or definite FH.Results: FH-negative patients (n=78) were older when diagnosed with HC compared to FH-positive patients (n=31): age at diagnosis 50±11 vs 31±12, p<0.001. Moreover, they had lower LDL cholesterol (C) levels pre-treatment (5.8±0. 9 vs 6.8±1.5mmol/L, p<0.001), but higher HDL-C levels (1.6±0.5 vs 1.3±0.3mmol/L, p<0.03) compared to FH-positive patients. No difference in age at diagnosis (p=0.92), LDL-C (p=0.63) and HDL-C (p=0.25) levels pre-treatment was present between FH-negative with high-LPg (n=50) versus low-LPg (n=28). Physical stigmata of HC were commoner in FH-negative low-LPg (8/21, 38.1%) versus high-LPg (3/40, 7.5%) patients (p<0.001). Moreover, 22% low-LPg patients had suffered a CVE versus 8% high-LPg patients, although this was not statistically significant (p=0.15). No difference was found in the prevalence of physical stigmata of HC (p=0.93) or history of CVE (p=0.64) in FH-negative versus FH-positive patients. There was no significant difference in total cholesterol, triglycerides, Lp(a) levels as well as the prevalence of hypertension, smoking, diabetes/IGT or family history of premature CVE between FH-negative versus FH-positive or FH-negative with high-LPg versus low-LPg patien
AU  - David,A
AU  - Cegla,J
AU  - Walji,S
AU  - Jones,B
AU  - Haboosh,S
AU  - De,Lorenzo F
AU  - Scott,J
AU  - Thompson,GR
DO  - 10.1016/j.atherosclerosissup.2018.07.034
EP  - 7
PB  - Elsevier
PY  - 2018///
SN  - 1567-5688
SP  - 7
TI  - Hypercholesterolemia with low versus high likelihood of polygenic origin: a single centre experience
UR  - http://dx.doi.org/10.1016/j.atherosclerosissup.2018.07.034
UR  - http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000445217100015&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=1ba7043ffcc86c417c072aa74d649202
UR  - https://www.sciencedirect.com/science/article/pii/S1567568818305257?via%3Dihub
ER  -
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