Skip main navigation

New offer! Get 30% off one whole year of Unlimited learning. Subscribe for just £249.99 £174.99. New subscribers only T&Cs apply

Find out more
Home / Healthcare & Medicine / Genetics / Genomic Scenarios in Primary Care / Case progression and management issues

Case progression and management issues

Prof Quereshi explains the management of patients with Familial Hypercholesterolaemia in primary care and how to reduce cardiovascular risk.
View transcript
7.3
Hello, everybody. It’s great pleasure to introduce to you Professor Nadeem Qureshi, who’s clinical professor of primary care and co-director with Professor Joe Kai of the Stratified Medicines Research Group in Nottingham. Nadeem, thank you very much for joining us again today. We’ve spoken a little bit about familial hypercholesterolemia from the point of case finding and the NICE guidelines. The whole essence of identifying these patients is to reduce cardiovascular risk. And I wonder whether you could just tell us more about that with regard to FH. OK. So one thing is, once you’ve identified these patients– which are called the index cases– they will be referred, hopefully, to a lipid specialist at the hospital with expertise in familial hypercholesterolaemia.
56.2
And there’s two aspects of the management there. Firstly is to manage the patients to reduce their risk of cardiovascular disease. And often that involves taking high potency lipid lowering drugs. Ideally you’d use just statins, but often they need to have other drugs on top, like a ezetimibe, and sometimes even more advanced drugs like PCSK9 inhibitors, as well as advice on smoking and other cardiovascular risk prevention. The other aspect– which is not a directly related question, but is as important– is that they will start something called cascade screening, where they identify other relatives who might have FH.
91.9
And one tip for general practitioners is, if they have got other relatives in the practice– if they ask the patient to advise them of their risk of familial hypercholesterolaemia, then they can get referred into the system, as well. Going back to about risk assessment. It’s really important, on an annual basis, these patients are seen. Most specialists will keep them for a year or two in the practice, but then they return to primary care. And what you’re looking for– as with any person in cardiovascular risk assessment– is their cholesterol levels– the management. But also, it’s really important to check for signs and symptoms of cardiovascular disease. And ideally, you’ll have a baseline ECG.
140.3
If there’s any suggestion of any cardiovascular symptoms, they should be referred promptly to a cardiologist with an understanding of familial hypercholesterolaemia. The other aspect, as well, is the NICE committee also thought, if people have got other risk factors for FH, and for cardiovascular disease– for instance, if they’ve got a really strong history of– family history of premature heart disease, or other risk factors like hypertension or diabetes– it’s sensible to have an early assessment for cardiovascular risk assessment at the hospital. Thank you, Nadeem. That was really helpful. The NICE guidelines talk about identifying people early, including children at young age– 10 or higher. How do we manage such patients with regard to reducing cardiovascular risk?
194.9
Well, the young FH patients– children– they’d really need to be followed up by a paediatric familial hypercholesterolemia specialist. Because it is quite important that they are taught the importance of this. However, if you’ve got a child with FH, one in two of the parents will have FH. And you as a GP have a responsibility to care for the parents. And in that way, you’ll also be providing advice to the children– so dietary advice, exercise, not smoking– so general advice, as if you had someone with a QRISK score over 20%. It’s the same advice, but you’d probably have to be more vigilant about the compliance to medication. And that needs to be considered as well. OK. Thank you. That’s really helpful.
249.7
There will be instances where we identify people at risk based on their cholesterol, but they turn out not to have familial hypercholesterolemia. And I wonder whether we could tackle this in a separate discussion, and what the potential implications are of future management of these patients. And the second is about identifying relatives who are at risk. You mentioned cascade testing, and I’d just like to explore that a little bit more in a separate video. But for now, Nadeem, thank you very much. That was really helpful. And if you have any comments or any queries, please do fill the comments box below this video. And we’ll endeavour to reply to you to your thoughts. Thank you very much. Thank you, Nadeem.

In the video, Prof Qureshi gives further detail of management of FH patients.

The patient’s concerns:

Azeeb is concerned about the diagnosis and the implications for family members. He is married with two children aged 16 and 12. He was very upset when his father passed away at the age of 47, died suddenly of a MI. Thus he is keen to ensure his own health remains good as well as making sure that his family get diagnosed early.

What are the key issues to consider at this stage?

Want to keep
learning?

This content is taken from
Wellcome Connecting Science online course,

Genomic Scenarios in Primary Care

View Course

NICE guidance captures the further clinical management of FH: lifestyle interventions, drug treatment, specialist referral and management. Management of cholesterol level through medication should be instituted at diagnosis, often within primary care, although referral to secondary care may be indicated if thresholds for reduction in cholesterol are not achieved. The linked guidelines advise lowering LDL-C to at least 50% of untreated levels.

Onward referral also enables consideration for genetic testing for FH within specialist clinics.

Family members may be undiagnosed. Another important reason for onward referral is to initiate cascade testing, a process whereby relatives of the index case are identified with the aim of offering genomic testing. Principles around data-sharing, confidentiality and data protection should be upheld. In primary care the family history is also important in advising the patient which family members are potentially at risk and should request a lipid profile from their own GP.

The British Heart Foundation have published a study concluding that testing is highly cost effective and would prevent thousands of premature heart attacks.

Want to keep learning?

This content is taken from Wellcome Connecting Science online course
Genomic Scenarios in Primary Care
View Course
See other articles from this course
This article is from the online course:

Genomic Scenarios in Primary Care

Created by
Join Now
This article is from the free online

Genomic Scenarios in Primary Care

Created by
Join Now
FutureLearn - Learning For Life

Reach your personal and professional goals

Unlock access to hundreds of expert online courses and degrees from top universities and educators to gain accredited qualifications and professional CV-building certificates.

Join over 18 million learners to launch, switch or build upon your career, all at your own pace, across a wide range of topic areas.

Start Learning now

Register to receive updates

  • Create an account to receive our newsletter, course recommendations and promotions.

    Register for free