Had similar patient in Somerset – normal plant sterols

From: Clinical biochemistry discussion list [mailto:[log in to unmask]] On Behalf Of Downie, Paul
Sent: 30 April 2019 15:16
To: [log in to unmask]
Subject: Re: Puzzling patient

Dear Paul,

Just wondered if you’d thought about sending a sample to Newcastle to exclude Sitosterolaemia??

Paul

Paul Downie BSc(Hons), MSc, MRCGP, FRCPath

Consultant in Chemical Pathology

Royal United Hospitals Bath and University Hospitals Bristol NHS Foundation Trust

Tel RUH: 01225 824711

Tel UHB: 0117 342 7766

My working days at RUH (Bath) are Monday, Thursday and Friday

My working days at UHB (Bristol) are Tuesdays and Wednesdays

From: Clinical biochemistry discussion list [mailto:[log in to unmask]] On Behalf Of Paul Collinson
Sent: 30 April 2019 12:44
To: [log in to unmask]
Subject: Puzzling patient

I would be interested in the collective wisdom of the mailbase users especially those with a particular interest in lipid disorders.

I have an 18-year-old girl with a cholesterol of 21.1 mol/L triglyceride 1.5 mmol. History is slightly complicated as she previously had anorexia nervosa diagnosed as due to an autonomic dysfunction which made her feel full easily. She remains underweight however. In addition, she does not tolerate carbohydrate very well and has a diet which is predominantly meat and dairy. Genetic testing excludes familial hypercholesterolaemia with a high likelihood of polygenic hypercholesterolaemia.

Carotid imaging shows no evidence of early atherosclerosis.

Any suggestions would be most gratefully received as I am very puzzled as to what is going on. My current working hypothesis is a combination of diet plus the underlying polygenic hypercholesterolaemia.

Professor Paul Collinson	T: +44 (0)208 725 5934 sec (0)208 725 5923
Consultant Chemical Pathologist and Professor of Cardiovascular Biomarkers	F: +44 (0)208 725 5868
Clinical Blood Sciences	E: [log in to unmask]
*St. George's Healthcare NHS* Trust**	W: www.stgeorges.nhs.uk

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