Curated Collections
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Familial Hypercholesterolaemia
Familial Hypercholesterolaemia (FH) is the most common monogenic autosomal dominant disease, with an estimated prevalence of 1 in 250 people. FH impairs the liver’s ability to remove excess LDL cholesterol from the blood, which greatly increases the incidence of premature cardiovascular disease (CVD). Currently only ~8% of FH individuals have been diagnosed in England. This highlights the need to increase diagnosis and reduce the incidence of preventable CVD in this high risk group.
This webinar is part of the Genomics Lunch and Learn series for nurses and midwives, to provide an insight into how genomic testing is used across different areas of healthcare.
Speakers:
Anthony Wierzbiki, Guy’s and St Thomas’s Consultant and Honorary Professor in Metabolic Medicine and Chemical Pathology
Tina Dawson, HEART UK Lipid Specialist Nurse
Jamie Rhind, HEART UK Service Development Manager
Dominic Studart, North Thames Genomic Medicine Service Alliance Interin Lead Nurse and FH Project Lead
Recording of a webinar run by The North Thames and South East Genomic Medicine Services in June 2022 which explored how Genomic Medicine can affect a patient in childhood and discussed a hypothetical case showing how different disciplines may be involved.
Speakers:
Dr Phil Ostrowski; SpR in Clinical Genetics, SW Thames Centre for Genomics
Dominic Studart; Familial Hypercholesterolaemia (FH) Project Nurse, North Thames GMSA
Nisha Shaunak; Lead Pharmacist South East GMSA
Dr Anwar Khan; GP Lead, North Thames GMSA
Created by the Royal College of General Practitioners (RCGP), this course consists of two modules. Module 1 provides GPs and other Health Care Professionals with information about the causes and consequences of FH, how they can identify those in their practice most likely to have FH, and how these patients and their relatives should be managed. Module 2 covers the genetic causes of FH in more detail, suggests new search algorithms to help in patient identification, and describes novel lipid-lowering agents that are in development.
To access this resource click here.
The primary prevention of cardiovascular disease (CVD) is one of the most important aspects of primary care and is particularly important for those patients with familial hypercholesterolemia (FH). As the prevalence of heterozygous FH in the UK population is approximately 1 in 250, a typical practice with 10,000 patients might have up to 40 patients with a significantly increased risk of premature heart disease.
The condition is significantly underdiagnosed, and the 2017 NICE FH guideline has recommended case finding in primary care using electronic records as an acceptable and highly cost effective method for individual practices to identify patients who so far have not had the benefit of treatment. The NHS 2019 long-term plan has set an ambition to identify 25% of the predicted FH patients in the next 5 years, and achieving this will depend heavily on GP input.
This course was created by the Royal College for General Practitioners (RCGP). A grant was received by North Thames Genomic Laboratory Hub (based at GOSH), South East Genomic Medicine Service Alliance and Health Education England for the production of this resource. Editorial and content decisions were made solely by the RCGP.
Created by the Royal College of General Practitioners (RCGP), this course consists of two modules. Module 1 provides GPs and other Health Care Professionals with information about the causes and consequences of FH, how they can identify those in their practice most likely to have FH, and how these patients and their relatives should be managed. Module 2 covers the genetic causes of FH in more detail, suggests new search algorithms to help in patient identification, and describes novel lipid-lowering agents that are in development.