A keen eye for riskBMJ 2018; 360 doi: https://doi.org/10.1136/bmj.j5884 (Published 01 February 2018) Cite this as: BMJ 2018;360:j5884
- Thomas J Ford, British Heart Foundation clinical research fellow1 2,
- Paul Rocchiccioli, consultant interventional cardiologist and, clinical lecturer1 2
- 1British Heart Foundation Glasgow Cardiovascular Research Centre, Institute of Cardiovascular and Medical Sciences, University of Glasgow, Glasgow, UK
- 2West of Scotland Regional Heart and Lung Centre, Golden Jubilee National Hospital, Clydebank, UK
- Correspondence to Dr Tom Ford, firstname.lastname@example.org
A 56 year old woman was referred to the rapid access chest pain clinic with stable angina pectoris. Her only cardiovascular risk factor was a family history of atherosclerosis, with her mother suffering from myocardial infarction at 50. Her body mass index was 20 kg/m2 and the main abnormality on examination was the eye sign shown in fig 1. Fasting serum cholesterol and low density lipoprotein were both markedly raised at 12.2 mmol/L and 9.3 mmol/L, respectively. Triglyceride levels were relatively normal at 1.9 mmol/L. Given the history, examination, and lipid abnormality, what further blood test would confirm the underlying diagnosis?
Genetic blood testing for low density lipoprotein receptor mutation to confirm the diagnosis of …