About this event

  • Date and time Wed 4 Mar 2020 from 9:30am to 4:00pm
  • Location Royal Society of Medicine
  • Organised by Lipids, Metabolism and Vascular Risk

The RSM is dedicating an entire day to the in-depth understanding of genetic causes, identification and management of Familial Hypercholesterolaemia (FH). You will have an unprecedented opportunity to learn about this under-diagnosed, potentially fatal, but eminently treatable disorder.

With a documented prevalence of 1 in 250, FH is now known to be one of the most common genetic diseases, affecting around 220,000 individuals in the UK. 

You will be updated on advances in DNA testing in the NHS, the genetics of FH, new recommendations in the NICE 2017 FH guidelines, the new HEARTUK Paediatric FH management guidelines and potential future identification of children and parents with FH by universal screening, electronic note searching for possible FH by GPs, the cost consequences of different case-finding strategies to identify patients with severe FH and of not identifying and managing FH, and of the way clinicians are tackling problems of commissioning the care pathway for FH patients.

Key topics include:

  • The NHS long term plan for FH and the proposed London minimum data set
  • The key changes to the 2017 NICE update of the identification and management of FH
  • The key role of GPs and utility of electronic note searching algorithms to identify possible FH patients for referral
  • New advances in the genetic causes of the FH phenotype (monogenic and polygenic) and how this leads to a precision medicine approach for these patients
  • The UK and international approaches for universal screening for FH in childhood
  • The Statement of Care for management of children with FH


Standard pricing available until 03 March 2020.


RSM Associate RSM Fellow RSM Retired Fellow RSM Student RSM Trainee
£0.00 £0.00 £0.00 £0.00 £0.00

Non - Member

AHP / Nurse / Midwife Consultant / GP Student Trainee
£0.00 £0.00 £0.00 £0.00


View the programme

Registration, coffee and tea

Session 1

Chair: Sean Carroll, Professor of Sport, Health and Exercise Science, University of Hull, Steve Humphries, Emeritus Professor of Cardiovascular Genetics, University College London and Dr Jai Cegla, Consultant in Metabolic Medicine

Chair’s welcome
The National Health Service long term plan and the pan-London five year ambition for Familial Hypercholesterolemia

Clare Thompson, Senior Project Manager, Cardiac Clinical Network, NHS England and NHS Improvement - London Region

Improving the management of Familial Hypercholesterolemia – the patient experience

Mark Fisher, Patient

The new recommendations in the National Institute for Health and Care Excellence 2017 Familial Hypercholesterolemia guidelines

Dr Jaimini Cegla, Imperial College Healthcare NHS Trust 

Electronic note searching for possible Familial Hypercholesterolemia by general practice using Familial a new case ascertainment tool and other algorithms

Professor Nadeem Qureshi, Clinical Professor of Primary Care, Co-Director, Primary Care Stratified Medicine (PriSM) group, NIHR School of Primary Care Research, University of Nottingham

A health economic cost consequences analysis of different case finding strategies to identify patients with Familial Hypercholesterolemia

Nick Hex, Associate Director, York Health Economics Consortium Ltd, University of York

Tea and coffee break

Session 2

Chair: Doctor Handrea Soran and Dr Devaki Nair 

Update on the genetics of Familial Hypercholesterolemia

Steve Humphries and Marta Futema, University College London

How many DNA-confirmed UK Familial Hypercholesterolemia patients have been found to date?

Kate Haralambos, Project Co-Ordinator, University of Cardiff

Progress and problems in finding Familial Hypercholesterolemia patients in Scotland

Professor Zosia Miedzybrodzka, University of Aberdeen 


Session 3

Chair: Professor Steve Humphries and Dr Ben Jones

Morbidity data for patients in the Simon Broome Familial Hypercholesterolemia register 1997-2018

Dr Barbara Iyen, National Institute for Health Research Academic Clinical Lecturer in General Practice, University of Nottingham

Child-parent screening for Familial Hypercholesterolaemia

Professor David Wald, Barts Health NHS Trust and the London School of Medicine and Dentistry

Universal screening for high cholesterol in five-year old children – the Slovenian experience

Dr Uhr Groselj, Pediatric Clinic, University of Ljubljana, Slovenia

The new HEART UK pediatric Familial Hypercholesterolemia management guidelines

Dr Uma Ramaswami, Royal Free London NHS Foundation Trust 

The FH studies collaboration- global initiatives for Familial Hypercholesterolemia detection and management

Dr Antonio Vallejo-Vaz, Clinical Research Fellow, Imperial College London

General discussion
Close of meeting

Professor Sean Carroll 


Royal Society of Medicine, 1 Wimpole St, Marylebone, London, W1G 0AE, United Kingdom

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