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Endgames Spot Diagnosis

A keen eye for risk

BMJ 2018; 360 doi: https://doi.org/10.1136/bmj.j5884 (Published 01 February 2018) Cite this as: BMJ 2018;360:j5884
  1. Thomas J Ford, British Heart Foundation clinical research fellow1 2,
  2. Paul Rocchiccioli, consultant interventional cardiologist and, clinical lecturer1 2
  1. 1British Heart Foundation Glasgow Cardiovascular Research Centre, Institute of Cardiovascular and Medical Sciences, University of Glasgow, Glasgow, UK
  2. 2West of Scotland Regional Heart and Lung Centre, Golden Jubilee National Hospital, Clydebank, UK
  3. Correspondence to Dr Tom Ford, tom.ford@glasgow.ac.uk

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?

Fig 1

Eye signs in cardiovascular disease: when the patient looks upward, a symmetrical abnormality is visible in both eyes

Answer

Genetic blood testing for low density lipoprotein receptor mutation to confirm the diagnosis of …

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