Familial Hypercholesterolaemia cascade testing services

Suzanne Cameron

Diagnosing, treating and tracking familial hypercholesterolaemia (FH) through families saves the lives of people who don’t know they need saving.

Suzanne Sheppard (picture above), who has FH, is painfully aware of the devastation heart disease can wreak. Her father died of a massive heart attack in 1988 when he was 41 and she was just 15.

Her grandfather had also died unusually young, due to a myocardial infarction. Her son, Cameron, has a 50/50 chance of inheriting the condition. He will be tested when he is ten.

A life saving system

In 2008, the NICE clinical guideline 71 reported that diagnosing and treating people with FH and contacting their families through a systematic process of cascade testing provides one of the very best opportunities for keeping patients healthy, happy, and out of hospital.
Two years later our pilot scheme in Wales began. With an initial investment of £450,000, we worked with NHS Wales and the Welsh Assembly¬≠¬≠ Government with support from HEART UK and the Genetic Alliance to provide a proactive interface between primary, secondary and tertiary care.

Our funding paid for clinical nurse specialists for the first three years of the service.

How does it work?

We are trying to do something now, that will stop people dying then.

Professor Peter Weissberg
BHF's Medical Director

A patient with suspected FH is referred from their GP to one of the lipid clinics across Wales, where family history is discussed. An assessment is made using the Simon Broome criteria, and initial treatment given to reduce cholesterol.

The patient is then referred to the clinic’s FH Specialist Nurse, who arranges a genetic test alongside blood cholesterol (LDL-C) concentration measurement. If the patient tests gene positive for FH, they are referred for family cascade testing, where immediate relatives are invited for testing and treatment.

If any of them test positive, then their immediate family are also invited for testing. And so the fight goes on.  

Saving lives, saving money

Cascade testing reduces the average age at which FH patients are diagnosed. We’re not sitting around waiting for heart attacks to happen.

When cascade testing began in autumn 2010, Wales had just 97 known FH patients. Since then, our nurses have identified 1,183 people who may have FH. Of these, 492 have been diagnosed with a genetic test and given life-saving treatment.

NICE has estimated that if 50% of the predicted relatives of people with FH were diagnosed and treated, the NHS could save £1.7million per year on healthcare for heart disease by preventing cardiovascular events.

The fight goes on

NICE emphasised the need for a “nationwide, family-based, follow-up system” to enable comprehensive identification of people affected by FH.

In 2014, we invested a further £1.5 million to continue fighting FH in England, Scotland and Northern Ireland. We will drive forward the rollout of cascade testing to find the missing 100,000 people with the condition.

Our funding to support implementation of FH cascade services across the country have brought  to light a variety of local and system-level barriers and enablers that are contributing to the current variation in access to services across the country. To synthesise and highlight the emerging issues and inform senior decision makers within the healthcare sector, we commissioned an independent evaluation to gather evidence from key stakeholders involved in delivering, planning and commissioning services.

Free DNA testing for registered FH patients

If you see children with FH in your clinic, you may have heard about the FH Paediatric Register, hosted by the Royal College of Physicians, in collaboration with the Royal College of Paediatrics and Child Health, HEARTUK, the British Heart Foundation and the British Inherited Metabolic Disease Group.

The aims of the register data are to allow monitoring of the safety and efficacy of current and new treatments and to provide anonymised data for valid research in the field.

Find out more

If you would be willing to register your patients, please visit the FH Paediatric Register and download the enrolment form.

If you would like more information, or if you have any questions about the register, please contact the project manager at [email protected]

Alternatively, if you have any clinical enquiries, please contact the clinical lead, Dr Uma Ramaswami at [email protected]