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Points for Reflection

1.Bill has spoken about the benefit of testing but some members of families at risk for FH may not wish to be tested. How would you as a health professional uphold each personís right to make their own decision about testing?

2. Who should act as a gatekeeper for this type of testing? Is it up to the primary care team to identify those at risk?

Activities

1. Identify cholesterol levels which are normal and those that would cause concern

2. How can elevated cholesterol levels be managed effectively?

3. What advice would you give to those individuals who had a history of undiagnosed cardiac events in their family?

Quotes

"... the thing about FH is that it is a condition which is very amenable to treatment, and it is more amenable to treatment now than it was five years ago because the understanding is better and the treatments are betterÖ"

"...I can think of many patients who have been successfully treated and their cholesterol levels have come down, their coronary disease has been treated with cardiac procedures, angioplasty, and they are leading healthy normal lives whereas otherwise they would have been cardiac cripples."

"...he had his cholesterol checked and the mother phoned two days later to say that he had dropped dead in his early forties. And this is just an entirely preventable occurrenceÖ"

"...if you diagnose an individual with this condition you can then cascade test for the family so you can test the brothers and the sisters, the children, other family membersÖ"

"...itís a condition that is under-recognised and itís under-appreciated by the public in general and by health professionals."

"...nurses do have a major potential role in this condition, for the education, for the counselling, for the cascade testing, for the detection and for advice, because very often patients will find it easier to contact a nurse to discuss issues that are concerns for them rather than make an appointment to see the doctor."

when you have that uncertainty in the equation, everybody becomes a bit unsure about what they should do next

Further information

UK National Library for Health, Genetic Conditions Specialist Library website: Familial Hypercholesterolaemia briefing

British Heart Foundation: http://www.bhf.org.uk/

Heart UK: http://www.heartuk.org.uk/


Location: The Stories
Transcript

You can download the full transcript here

Billís story: Working with familial hypercholesterolaemia
A health professionalís experiences with this dominantly inherited condition

I just wanted to start off by asking you if you could tell me what condition it is that you work with?

I work with lipid disorders but particularly with familial hypercholesterolaemia - FH.

Ok. Would you just like to maybe explain a bit about that for us?

Familial hypercholesterolaemia or FH is a specific condition with high cholesterol values which is inherited in a dominant manner directly from parent to child and which gives rise to high cholesterol, particularly high low density cholesterol concentrations in the blood and it causes early coronary heart disease.

And what does your actual role involve?

Two roles again. Iím consultant in the clinic where we look after these patients and these individuals and I am also responsible for the laboratories that do a lot of the testing on the blood of these patients.

So in relation to the laboratory testing, explain a little bit about that and the significance to the actual condition.

Well the main test thatís done now is cholesterol testing and the different reaction to cholesterol but it can measure total cholesterol, it can measure low density cholesterol, it can measure high density cholesterol, and in patients with FH familial hypocholesterolaemia, those levels are high and that is fairly standard testing and it is a requirement for the diagnosis. But FH is not the only cause of high cholesterol. In fact it is, relatively speaking not the most common cause but itís important because itís inherited and they are now developing new tests where we can actually test for the DNA tests and they are still on the border between research and routine service, but those we are developing at the same time.

And in terms of the testing, is it something that is routine or is this only for specific patients?

Well the cholesterol testing is standard. That is readily available but the DNA testing is very specialised in only for - it is really only basic at the moment. It is not readily available.

And in relation to the actual condition, do you think that is something that needs to be developed?

Yes I think it will come. I think within the next five to ten years it will become standard. One of the main reasons itís not so widespread is that technically itís quite difficult, and also itís very expensive because at the moment it can cost between £500 and £1,000 for a single patient test, whereas a cholesterol test is maybe only £2 so its very much more expensive, and also there are still technical difficulties with doing the test which mean that it doesnít actually make a diagnosis in every patient. So itís a supplementary test which I think is coming but is not yet available for everybody.

I just want you to reflect on your experience of giving care in the NHS and maybe just identify some positive or negative experiences that you have had in relation to your patient group.

In relation to looking after people with FH?

Yes in relation to that.

Well positive experience, the thing about FH is that it is a condition which is very amenable to treatment, and it is more amenable to treatment now than it was five years ago because the understanding is better and the treatments are better, in particular the cholesterol lowering tablets are much better than they were even five years ago and weíve now got very good evidence that if you can treat the LDL cholesterol in these patients and these individuals, the risk of coronary disease will be much reduced, and the outlook for these patients is very much improved compared to what it would have been if they werenít treated like they would have been ten years ago. So thatís the positive thing about it and I can think of many patients who have been successfully treated and their cholesterol levels have come down, their coronary disease has been treated with cardiac procedures, angioplasty, and they are leading healthy normal lives whereas otherwise they would have been cardiac cripples. So it has a huge positive benefit on the individuals involved. Thatís the positive side.

And what about negative experiences?

Negative of Ö.? Well the negatives are often due to situations where individuals havenít been adequately treated. I mean do you want me to give you an exampleÖ?

Yes please.

Within the last couple of weeks I can give you an example. We have a patient who attends our clinic, a lady in her fifties who had coronary by-pass grafts when she was younger and she knew that her son had inherited the condition. But her son had been lost to follow-up. This lady is now in her sixties and the problem was that her son had not really appreciated the significance or the benefits of the treatment. And as a result of our efforts to improve the follow-up for patients and families with FH, she had contacted her son again and said you really ought to have this looked into, and our specialist nurse had seen her and the son had contacted her and said yes, I think I really need to get looked after properly now. And she said well go and get your cholesterol checked and give me a ring. So he had his cholesterol checked and the mother phoned two days later to say that he had dropped dead in his early forties. And this is just an entirely preventable occurrence and it makes us realise that if we had had better systems or if there had been better systems for better treatments available when this man was in his thirties, you know this wouldnít have happened. And there are numerous examples, particularly in younger men because they are at higher risk.

And what do you think in relation to the knowledge base of FH thatís accessible to most people? What do you think is a representation? For example, you said a lot of young men are dying. Do you think it is well known amongst the general public and also the sort of practitioners they would go to in the first instance like the GPs?

No thereís a lot of ignorance really. I mean itís a condition that is under-recognised and itís under-appreciated by the public in general and by health professionals. Itís got an incidence of about 1 in 500 of the general population which is high for a genetic condition and many people just donít appreciate that. I mean there are lots of reasons why itís not appreciated. Itís often silent until it causes problems. Because raised cholesterol, to some extent, is quite common, people tend to not treat it with the significance that this particular condition deserves because it is a particularly aggressive form of high cholesterol and until recently the treatments were not that good so people tended not wish to take it seriously because they felt they couldnít do that much about it. So there are various reasons why it has been under diagnosed. And also because it tends to fall between professional stools. There are lipid specialists but there are not that many lipid specialists. There are cardiologists. Thereís general practitioners. Thereís specialist cardiac nurses and there was a bit of problem that nobody was taking full responsibility for looking after these individuals.

And what do you think would improve care for your clients? You have already mentioned some of those, but what other key kind of points that you think at this point would improve the care for people?

In terms of organisation of the service?

Yes.

Several things we need. We need better information available so thatís why this project is helpful because it really does give access to individuals. It gives access to health professionals to find out about this because thereís ignorance about it. People donít know enough about it. They donít understand it. Thereís also the needs to be the infrastructure to look after these patients and also to test family members because there is now good research to show that if you diagnose an individual with this condition you can then cascade test for the family so you can test the brothers and the sisters, the children, other family members and you know that thereís a 50/50 chance that those individuals will have this condition and now the evidence is there that they should get treatment. So we need this system and we need specialist nurses who can do this. We need information, we need nurses. I would say are the two big requirements.

And what kind of contact do you have with your nursing colleagues, both specialised and general?

Well in terms of specialist nurses I mean we are just developing the role for an FH specialist nurse and I think there is a clear role for an FH specialist nurse working particularly with lipid clinic, particularly to advise families and patients and to organise cascade testing which is something which requires time and requires an informed and sensitive approach and trained nurses that have a cardiac background or genetic background are the best people really to do that. So thatís where the specialist nurses come in. But I think also, other nurses need to be aware, cardiac rehab nurses see lots of patients with cardiac disease and some of those patients will have FH, particularly the younger patients and sometimes they are not recognised by the doctors, sometimes not by nurses. So if rehab nurses are aware of this condition, they know the significance of the condition and they know what can be done. Thatís an important role that they can play.

What about for example nurses allied to general practices as a sort of point of contact.

Yes, yes, because the condition is sufficiently common, 1 in 500, every practice will have a several of these patients. They may not know it but they almost certainly do. I think there needs to be an awareness in practice nurses. I think the initial assessment of these patients probably needs to be done in a specialised clinic, but thereafter the management can often be followed up in general practice once the patient and those looking after the patient have been educated really, as to what the condition is and what to do about it, yes.

And is there anything more you feel that nurses could do to support your work with patients and carers?

Well as I say I think that nurses do have a major potential role in this condition, for the education, for the counselling, for the cascade testing, for the detection and for advice, because very often patients will find it easier to contact a nurse to discuss issues that are concerns for them rather than make an appointment to see the doctor. And there are lots of issues that come. ĎCan I take these tablets when Iím pregnant?í ĎWhat about my children?í ĎWhat are the side effects?í ĎHow long do I have to take these tablets?í There are lots of questions which an informed nurse can really help with.

OK. And what do you feel your clients and their families expect from you and your team in the relationship?

Well they expect expertise, they expect you to know, us to tell them exactly whatís going on. They expect a clear diagnosis. They expect specialist advice on the treatment, which is important. And the adverse effects of treatment, that is always a concern of people you are asking to take treatment for the rest of their lives. You need to know that you know what these drugs can do, what the adverse effects might be and can reassure them the fact that the safety record is excellent but people who have specialist knowledge of what the adverse effects can be. And it needs to be done in an environment where they feel comfortable to discuss these sort of issues.

And what about the multidisciplinary team you work with? Just enlighten me in terms of the different roles that people play.

Well within the lipid clinic there is a multidisciplinary approach but I think there is also wider disciplinary approach you know, because within the clinic there is some general nurses who look after the running of the clinic, then thereís the doctors. The dietician is important in any lipid disorders and FH is included in that because drugs are only part of the story. Specialist nurses for the counselling, the cascade testing, the specialist information and obviously the admin and clerical support within the clinic.

Then of course outside the immediate clinic itself, the laboratory side which is very important as well. So the testing has got to be good, got to be timely. It has to be accurate, and the DNA testing is going to become progressively more important and that requires particular skills, particular expertise which needs to be developed, and so there needs to be, the atmosphere of the clinic for example, one of our laboratory scientists came and sat in the clinic and was involved in the consultation with the patients with FH and that brings together everybody, the patientís life, the scientistís life everybody then works together towards a common end. Thatís important. And then thereís the wider, as you said before, the links with general practice. The links with other specialists, particularly cardiology is important. Because these patients do develop, particularly the treatment isnít optimal but they do develop coronary disease so they need access to angiography, to exercise testing, to by-pass surgery and that sort of thing. So it becomes a very big network really.

Is there anything else that you would like to discuss or raise as an issue that you think is important? I know youíve got some points there that you might want to add that weíve not already covered.

Well I think thereís a huge gap in provision for this particular condition for the reason that I have mentioned already. The fact that it is under-diagnosed, itís under-recognised. It tends to fall between different professional stools. People tended to ignore it a bit because they felt they couldnít do things about it. But itís changed you know, the diagnostic procedures are improving. So I think we need a proper network system for FH specialist nurses. I think thatís one thing we need.

I think we also need further investment in the development of the molecular diagnostic test because I think thatís going to take the diagnosis on to a whole stage further because there are still a lot of patients in whom the diagnosis is probable, but it is not definite and when you have that uncertainty in the equation, everybody becomes a bit unsure about what they should do next. You know, the patient becomes unsure Ďwhat exactly have I got?í The people prescribing drugs feel a bit unsure about whether they should be prescribing drugs. The family are unsure about whether or not they should be testing other members of the family, so development of the molecular side I think is going to move and take a significant amount of uncertainty out of the diagnosis. This will improve the whole management of this condition.

And do you often have a number of patients from families?

Yes oh yes.

And how do you find working with a number of family members?

Well it can be interesting of course because not all families get on all the time. It does sometimes raise issues you know. Quite often you get a parent and an older daughter or son who actually come to clinic together. You actually see them together. Thatís not uncommon. Usually what happens is that the parent has developed coronary disease at an early age and as a result the children, sons and daughters have been tested and those sort of families, as a rule, are very motivated to look for and receive the treatment. So that is quite often the family unit that you get together. But sometimes you have families where some people in the family just donít want to know.

So you are working with family dynamics and are very conscious of that?

Can be.

Is there anything else that you would like to add, for the project?

No. I think education is very important in this condition and . . .

At which level do you think that needs to be done?

I think itís important for health professionals. I think itís important for patients. I think in patients, there is a role here for expert patients actually. Itís a condition for people who have it can actually, if they know enough about it, can actually learn enough about it to be able to educate other people. So itís not something that expertise needs to be so obscure that only health professionals can understand. And I think there is a role for developing expert patients in this condition, partly because itís so common. I mean we estimate that there are about 6,000 individuals in Wales who have got this condition and thatís a lot of people.