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Point for Reflection

Lowri highlights that although this condition can lead to CHD and early death, if those at risk are diagnosed and receive treatment swiftly, then these grave consequences can be avoided. Increased awareness and understanding of early warning signs such as family history by a practitioner can help to identify those at risk, and ultimately save lives.

Activities

1. Two voluntary organisations were mentioned in Lowriís story. Identify resources from these groups or others that encourage and facilitate a healthy lifestyle to reduce the risk of coronary heart disease.

2. Lowri discusses the hope of developing a Ďcoordinated systematic approachí for identifying people with FH. This is called Ďcascade screeningí i.e. offering cholesterol tests to relatives of known patients. Find out more about cascade screening online at www.fhcascade.org.uk

Quotes

"Even pharmacies because now they are offering cholesterol screening I think they need to be very aware of the potential that they have for identifying people with problems and making sure that they are referred to the right people really."

"(Treatment) it works in conjunction with a healthy lifestyle and that isnít to be underestimated, certainly in todayís society with bringing up their children also."

"..familial hypercholesterolaemia is, obviously it is a genetic condition but I think the fact that it is easily identifiable and is easily treatable and can prevent premature cardio-vascular disease is a big issue with this. You know for many genetic conditions the outcome is not so easily treatable and there are huge issues then in terms of having children and other lifestyle issues as well. But with this I think generally positive because something can be done and treatment can be offered and you are not asking them to make huge choices."

Further information

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

Heart UK - patient and professional organisation for FH and related disorders

British Heart Foundation

Department of Health FH Cascade Testing Audit Project

National Institute for Health and Clinical Excellence (NICE) guideline development for FH


Location: The Stories
Transcript

You can download the full transcript here

Identifying families at risk of inherited high cholesterol (familial hypercholesterolaemia) - Lowriís story.
A nurse talks about her involvement with this autosomal dominant condition as part of a pilot project to identify affected individuals.

I would just like to welcome you to the interview today and thank you for coming. I just want to start off by asking what condition it is that you actually work with.

At the moment I am working on a project, audit screening project for familial hypercholesterolaemia pilot.

And what does that involve?

Well itís a pilot project at the moment and it involves auditing the notes of patients with familial hypercholesterolaemia and then speaking to them about the condition in clinic, once they have been diagnosed. Obviously some of these have been diagnosed for quite some time now and looking at their first degree relatives to see if they have been offered screening at any point.

And whatís your experience of giving care to these groups of people?

My past experience, in terms of nursing you mean?

Past present and..

Right OK. I am obviously a registered general nurse. Probably the majority of my background is cardiac based in both primary and secondary care. I have also done some research and I have run risk factor management clinics for coronary heart disease. My interest with hypercholesterolaemia has developed from that really. And in terms of familial hypercholesterolaemia I have been involved with this pilot now for about a year and our hope is very much that this will be expanded to cover, or be offered as a service throughout Wales. Iím sure you are aware the Department of Health have funded a similar pilot in five sites in England.

And what do you think so far are the experiences, in terms of in Wales?

Well we are focussing very much on patients from two particular hospitals and also now in the last few months, a third site which has a lipid clinic. So at the moment it is focussed very much on individuals who have that condition there, but you know, we are very keen to get some form of funding so that equity is provided really, in terms of other patients in Wales as well.

What do you think is the current understanding around FH?

With individuals or..?

Individuals, communities and also other nursing profession.

Well I think it is quite specialised. Individuals who have got familial hypercholesterolaemia I think have generally reasonable levels of knowledge about it. I think the knowledge in the general public has improved not so much with FH but certainly with high cholesterol as an issue in relation to cardiovascular disease. I think that is becoming sort of better understood, if you like. But I think there is a lot of work to do in terms of familial hypercholesterolaemia because as I am sure you are aware, the amount of people who have it, heterozygous FH is 1 in 500, which gives us a UK estimate of 110,000 people and yet we only know of a quarter of those. So there is a lot of work to do in identifying these individuals and making sure they are treated and treated adequately. So I think there is a lot of work to do. In terms of nursing, I think people who, again you know hypercholesterolaemia is an issue as a risk factor. Awareness is definitely increasing about that. In terms of FH, I think again you know, even within cardiac nursing, I think thereís probably quite a bit of awareness raising to do and certainly in primary care also.

And whatís the experience in primary care, with the contact that you have?

Minimal at the moment. If we get the funding to roll this out then our aim is to try and work collaboratively with them in identifying people who perhaps fit the profile of this so that they can be referred into secondary care, investigated fully and diagnosed if appropriate. So I think again, you know, we need to work very closely with our family care colleagues because I am sure that some of these individuals are there and could potentially be easily identified and in the long term it would be our aim to provide a sort of a care pathway if you like, so that a seamless provision of care could be from primary to secondary, as and when the patient required. So they wouldnít necessarily need to be managed in secondary care but could be managed between both primary and secondary care as appropriate.

What about other general nurses. I mean youíve mentioned, obviously youíve mentioned primary care and youíve mentioned cardiac nurses. Whatís your experience of other nursing areas, do they have much knowledge of FH?

I donít think they would have. I mean obviously you know I have worked within cardiology for a while now but itís quite a specialised condition really, and obviously the main risk with this is premature heart disease. So in terms of that I think you would find probably more interest and more knowledge within the cardiology speciality, because many of these individuals will have been picked up after having had a heart attack or an angina attack. And then their cholesterol levels would have been checked and then ďoh dear me, this is a problemĒ and so, general nurses, I doubt very much whether there would be that level of knowledge.

Is there any experience that you particularly remember in terms of patients either positive or negative?

As I said I have only been involved in this pilot a year at the end of this month, and itís just the devastating consequences that this condition has if itís not picked up and you know treatment for this condition is very much improved now than it was ten or twenty years ago. And I just think that we need to make a concerted effort to find these individuals and treat them and stop them developing heart disease in the first place rather than treating them if they survive their first heart attack when thereís no need for that.

What about other nursing support, do you think thatís a key component? I mean you mentioned if you got support from primary care that would be helpful. Are there other areas where you think..

Yes I think there are. Certainly cardiac rehab nurses because they deal with individuals who have got heart disease so I think there is important. Other cardiology specialist nurses who work between primary and secondary care and nurses on medical wards certainly because theyíve got to look after their fair share of patients with heart disease. Rehabilitation wards because again they might not present with heart problems. They might present with other vascular problems although heart problems are the most common. So I think it is and certainly raising awareness within the general population as well. Itís important.

Do you mean the community contact?

YesÖ Thereís patient support groups like Heart UK, as you are aware, and the British Heart Foundation. So I mean they are very good. Heart UK especially because they are very lipid focussed and thatís an excellent source of information. I think by going out and trying to be involved in community projects, Healthy Heart projects maybe, thereís certainly a need I think to be working collaboratively with them. Even pharmacies because now they are offering cholesterol screening I think they need to be very aware of the potential that they have for identifying people with problems and making sure that they are referred to the right people really. So I think itís very important.

What do you feel your clients and their families expect from you and your team, the team that you work with? When they come to you, what are their expectations?

Good levels of communication. I think if they are able to talk and we are approachable and able to impart knowledge that they understand. Because itís a lot to take in, certainly when they are first diagnosed, they are bombarded with a lot of information. And I think easy acces, certainly from my role. I see that very much as, you know, they donít have to wait until they come into clinic. I encourage them very strongly if they have any questions that they feel they should have asked when they were in clinic, to ring me, not to worry about things, however silly it might seem to them. I would rather them give me a ring really and air those views with me. Support, encouragement.

What kind of support?

Well again, you know you can supply them with knowledge but often you have to be aware of the fact that some people are more interested than others. You know, some people will go off and look for other areas where they can gain information. Others perhaps, they donít want to know that much. So itís being aware of that. Again itís offering availability really, so they can get in touch with me, they donít have to wait until the next three months when they have their next appointment and those sorts of things.

What are their expectations of decision about their treatment?

Most people I think now, certainly if theyíve got high cholesterol are aware of the treatment options. I think most of them have heard of statins now. Some have negative sort of issues. They will remember speaking to somebody down the road who is taking the medication, but you know we are able to discuss that with them and the amount of evidence there is and how easy it is to be identified and treated and that there are many more treatment options available now. Having said that obviously it works in conjunction with a healthy lifestyle and that isnít to be underestimated, certainly in todayís society with bringing up their children also. That is a real issue in trying to help them to help their children to understand how dangerous smoking would be on top of this condition and how important healthy lifestyle and exercise, all those things are also.

Tell me about the multidisciplinary team you work with. Do you provide the care?

Yes, thereís several consultants, as I am sure you are aware. Three of them are chemical pathologists. One of them is a physician with an interest in endocrinology and thatís just in this small area. Then thereís myself. Thereís a dietician attached to the clinic which is great because weíve got direct access and then theyíre able to refer to other people such as smoking cessation counsellors. And obviously primary care are involved with this as well then because all the information is relayed back to them and then we also encourage individuals to contact people like Heart UK, British Heart Foundation if they require further information other than what we have supplied them with.

And what do you find is the experience of people when they find out they have this condition that not only are they affected but also their families and their children and other relatives are affected?

Obviously itís a worry. I think sometimes they are more concerned about their children than they are themselves. Generally they really would like to help and I think often they feel they want to help for future generations. I think the impact of familial hypercholesterolaemia is, obviously it is a genetic condition but I think the fact that it is easily identifiable and is easily treatable and can prevent premature cardiovascular disease is a big issue with this. You know for many genetic conditions the outcome is not so easily treatable and there are huge issues then in terms of having children and other lifestyle issues as well. But with this I think generally positive because something can be done and treatment can be offered and you are not asking them to make huge choices.

And what do you think would improve care for your client group?

I think that this service should be offered everywhere throughout Wales. Iím not sure if you are aware there is a National Service Framework that is for Coronary Heart Disease that the Welsh Assembly Government implemented in 2001 and familial hypercholesterolaemia is actually mentioned in standard two as a condition that we should be striving to identify those that we donít know about. So I would very much like to see that happen. I would like to see service provision rolled out throughout Wales, a co-ordinated systematic approach to finding these individuals so that they can be treated and treated effectively which in the long-term will have long-term implications in terms of preventing themselves or their family members from developing premature cardiovascular disease and the devastating consequences that can arise if it isnít found and even in this short time that Iíve been involved with this, I have seen that and it is awful.

What are those devastating effects?

Well, early death. You went to familial hypercholesterolaemia day and listened to one of those tragic consequences yourself didnít you, with very early death in a relative of one of our patients who didnít survive past their early twenties. Whereas if they had been identified and treated and treated effectively, perhaps monitored more closely, whichever way you want to look at it, I just think that could have been prevented really. And itís just tragic.

Is there anything that we could do to help you to prepare for providing care to clients? Obviously resources is one thing we could do but is there anything more that we could sort of do really?

I think raise awareness of FH as a condition, that we are trying very hard to gather the evidence if you like, that this is an effective screening strategy. You know the evidence is there. What we need now is the funding to be able to roll it out and I think that if people who have this condition in a way I think of the fact that we are trying really hard, that would help as well. Because it is tragic to see some of the implications this condition has for people and their families and not even in terms of fatalities but from the mobility of cardiovascular disease, the long-term consequences of having to live with that in terms of quality of life. Having to wait for bypass surgery. Having had then cardiovascular damage so that their lifestyles are very severely limited which obviously has an impact on other family members as well. So we are all very motivated and very keen to try and roll this out as a service. We just hope that that will happen in the very near future.

Is there anything else that you would like to add thatís important to the project, or any aspect of getting information across about FH?

No I donít think so.

Thank you.