Case finding

Hello, everybody. My name is Imran Rafi. I’m a GP in Surrey. And it’s a great pleasure to have with me Professor Nadeem Qureshi, who’s Clinical Professor of Primary Care in Nottingham, and Director of the Stratified Medicines Research Group in Nottingham. Nadeem, thank you very much for joining us and talk about familial hypercholesterolaemia. I’d just like to kick off and just ask you about how we go about case finding using guidelines in primary care to identify these people at risk. OK. Thanks a lot, Imran, for inviting me down to talk about this. Well, if you take the NICE guidelines, the starting point is to do a search of the electronic health records for cholesterol levels.

So the two specific cutoffs that are used was a cholesterol over 9 in anyone over the age of 30, and a cholesterol less than 7.5 under 30. And then once you identify those patients, then you actually invite them in to be assessed against Simon-Broome and Dutch criteria. I’ll go on to those in a minute. But just going back to the case finding– the use of cholesterol alone is quite blunt. And there are other ways to improve the case finding. So for instance, you can take into account the patient’s triglycerides, if they’ve got other causes that could cause raised cholesterol like hypothyroidism, and also, if they are on high dose statins, and the age.

And there are other tools that can help with case finding, for instance, the FAMCAT tool that’s been developed in Nottingham, or there’s tools from Newcastle as well as other places that can refine that initial case finding before you go and invite the patients in for the Simon-Broome or Dutch criteria.

Now the Simon-Broome and Dutch criteria– we’ll provide you links to these– but basically, what they’re looking at– and if I start off with the Dutch criteria– what they’re looking at is information about the patient’s personal history, if they’ve got premature heart disease or cardiovascular disease, if there’s any findings on examination where there’s thickening of the tendons, also the cholesterol levels, and if they’ve had genetic testing– which is very unlikely in the UK at the moment. And then that’s combined to tell you if they’ve got a high risk of getting FH. And those are the people you refer to the lipid specialist. Simon-Broome is less complicated, because you don’t have to have all those criteria scored.

So you could simply refer someone if they’ve got a family history of premature heart disease and a raised cholesterol. But we’ve found previously, if you use Simon-Broome on its own, far too many people get referred. So that’s why case finding is really important in the beginning, to actually help refine which patients you have to do that assessment on. That’s really helpful. So how do we practically do this in our practices? How do we actually do this in an effective way, so that we can identify these people quickly? So the first thing is, you need to do a search of your computer systems.

So the simplest, as I said was, simply to search on cholesterol levels– 9 in people over 30 and 7.5 in people 30 and younger. That will bring you a group of patients– that’s the simplest way– that you can actually bring in for assessment. If you want– if you’ve got too many patients, or you want to do something more refined, then as I said, you can use one of the electronic health record search tools to do that, like FAMCAT. Once you’ve got that, then you need to have a recall system to bring them into your surgery. And so, you need to bring them in for double check the family histories, check the medical information’s correct.

Ideally, you want to repeat the cholesterol levels, as well, because there’s natural variation in cholesterols. And also, you want to– if you can– do a clinical examination. Admittedly, we don’t see many people with cholesterol deposits in the tendons. And you should never say someone hasn’t got FH because they haven’t got the deposits. Because that was just when we didn’t used to have statins. So the examination’s useful, but it’s not essential for the diagnosis. Once you’ve done that, it’s really important to actually refer them to the appropriate specialists at the hospital. Thank you, Nadeem.

Before we talk about the specialists in a later video, I just want to ask you if you could just summarise what the NICE guidelines say about familial hypercholesterolaemia– so the main salient points and the main usefulness of the guidelines. Well, the guidelines– the first thing they talk about– the how you do case finding and diagnosis, which we’ve discussed. Secondly, they actually advise about the role of cascade screening. Within that, they also advise about the relevance of a genetic test. And one thing they do remind you about is that the genetic test– even if the cholesterol’s low– if you’ve got a positive genetic test, you’ve got FH.

Then they also describe the management of FH in terms of what you’re trying to achieve, which is an ideal of 50% drop in the cholesterol level– or the LDL level– and how you can do that. So you start off with statins– high potency– and then go on to other drugs. Ezetimibe, and more recently, they’ve talked about the role of PCSK9 inhibitors. But that’s just for specialist’s care. Also, they talk about the age when you start diagnosing FH in children. And usually, it’s not before the age of 10. And also, not forgetting the importance of lifestyle advice. Again, we’ll provide a link to the salient points in the guidelines with this video. Nadeem, that was really helpful. Thank you very much.

What we’ll do is, we’ll pick up on cardiovascular risk assessment and also on referral to secondary care and possibly tertiary care in later videos. But for now, thank you very much, Nadeem. That was really excellent and really useful tips on how to identify these patients. Thank you very much.