Lack of NHS FH testing (again)

I went to the lipid clinic today, and, as I expected was told that the foundation trust don't pay for FH testing as it is too expensive. The consultant said that they were about to ask the commissioners if they could have testing, and I pointed out that QS41 said that testing should be offered.

It wasn't a complete waste of time as she did a more comprehensive physical exam than the previous consultant (carotid arteries, leg arteries etc) and said everything seemed fine, my BP was 140, but I said that simply showed how stressed I was as it's always under 130 in the doctors.

I said I wasn't about to take statins on the basis of 'possible' FH and she did my QRISK score at my request (which is 6.7% chance of a heart attack in the next 10 years!). But I said there was absolutely no point in my going back for review if I wasn't going to offered any more diagnostics and the position re genetic testing stinks. She didn't disagree....

So it looks like my next step is a formal complaint re breach of the QS41 standards.

23 Replies

  • The reason I want to know is simple - I think it's pretty unlikely I have got an identified gene mutation, but the gene mutation you have, if you have got one, is a very good indicator of your relative risk.

    If you look at my last post for example on this subject, those with a mutation on PCSK9 gene are at much higher risk than those with a mutation on LDLR gene.

    And if you have NO mutation identified, then you don't officially have FH, and the advice is that you revert to your Q risk score for advice on whether or not you should take statins. And by my Q risk score I should not be prescribed statins.

    It's highly unlikely I would take statins in any case, unless they said I had a PCSK9 mutation, in which I would ask for some medication (but it would probably be low dose aspirin).

    The point is that at the moment I'm in a ridiculous grey area - one method of assessing risk says I'm low risk for CVD, the other says I MIGHT be a high risk. It would be nice to know my actual risk and how careful I need to be!

  • Hi Traci,

    The issue is that I am just "possible" under Simon Broome criteria, so that doesn't give me any clear information apart from I might have a risk, or I might not.

  • I think the point is that everyone who is denied testing needs to put in a formal complaint to the commissioning body responsible. They will eventually get fed up with dealing with complaints and do something.

  • I do agree about this ridiculous grey area on such an important issue. I dealt with the frustration in a different way by going to another hospital which did have funding. This was extremely stressful and without sounding patronising, it helped that I have a nursing background so at least I felt I had a little bit of "clout" behind me as I didn't get any help from anybody else.

    Why can't FH be tested for in Regional Genetic Centres like other genetic condition or why can't some central body provide a list of hospitals that do offer it? My two lipid clinics were about 5 miles apart in London, but obviously in different administrative areas. I think the issue of cascade testing, frankly is less important .

    As I said before, no patient would put up with a "possible diagnosis" of cancer or appendicitis it would be properly diagnosed and treated.

  • I don't have a nursing background, but I printed out the QS41 and took it in with me, and feel I got treated with a lot more seriousness as a result. She did ask if I worked in the health service, I said no, I was just informed.

    She also said she agreed with me that the testing should be provided. But since I don't know which hospitals do provide it (is there a list?), I'm stuck unless I move to Scotland. There is one other possible path which is that my GP says she will see if they can do it. But I'm going to wait and put the complaint in first - unless people don't complain, nothing will change.

    As far as I can see under the new Health service structure the best path is to complain to the commissioning authority - and there is then the option of going to the parliamentary health services ombudsman.

  • I was also very annoyed as the consultant said some people pay for the test themselves. Well since I have paid for the health service in taxes, and I'm actually in fairly good health and have saved the NHS some money by not having any children, I'm not paying for a test they SHOULD be providing. I could get the cash if necessary, but that's not the point!

  • I understand your point about paying your taxes,but with something as important as your health would you rather not pay now rather than paying later with poor health and possible death.Sorry to be so blunt,but life is more important than any amount of money.

  • well I'm going to die anyway at some point, the point is that the NHS at the moment is alarming people but not providing a proper diagnosis.

    Either they pay or I don't have it done. My point is that the NHS should not start this process if they are not going to follow through and provide a proper diagnosis, and simply prescribe statins - a GP could do that to everyone with cholesterol over 7.5 and a family history of heart disease (and my cholesterol is below 7.5 now anyway).

  • That's a fair comment.Don't start what they are not willing to finish and then fob people off with statins that have a list of side effects as long as your arm.Yes we are all going to die sooner or later.I personally prefer the latter of the two.After seeing both my parents being treated appallingly by the nhs.I will definitely not be putting my life in their hands if i can help it.Even if i have to think outside of the box.

  • I also investigated the private route. Not as easy as it sounds. I spoke to the lab in London. The actual DNA testing for all mutations is over £1000, plus you have to arrange for somebody to take your blood sample (unfortunately you can't do that) and then get it to the lab under the correct conditions.

    My second lipid clinic used a lab in Northern Ireland (the logic escapes me but never mind) and I had to wait 9 months for the result, but I actually didn't mind that as I was past all caring by this time.

    Very helpful second lipid consultant told me that in his experience medical insurance will not pay as labs put a very high mark up on DNA testing. We are all led to believe that DNA genotyping is the way forward, but just try getting it in a lipid clinic in England.

    I have told my story to HEART UK for their campaigning on this.

  • I'd like to know because it would give me more information about whether I'm at risk or not. Genetic testing DOESN'T tell you if you have FH according to my consultant! She is partially right, in that there are some unexplained causes of high cholesterol, and there can be degrees of mutation in FH which won't always show in a test, but can still cause you to have higher cholesterol than usual. I think that's what I've got, if I've got anything, slightly impaired LDL receptors, but obviously not that impaired because my cholesterol isn't that high, and some it is probably attributable to being overweight, since when I lost 10% of my body weight my cholesterol dropped 10% - and if lose another 15% and it drops another 15%, my cholesterol would be completely 'normal' at around 6, and I'd still have a BMI of 27..

    So I think in the absence of a test I'm going to have to grit my teeth and lose some more weight, it's self diagnosis by trial and error.

  • No, genetic testing identifies whether you have FH or not .FH is a specific genetic condition associated with a much higher risk of heart disease in some families. It can be diagnosed by "finding" the mutated gene by DNA screening (there are 3 main genes responsible for 99% of FH according to current thinking).

    Most people with FH have very high levels, double figures sometimes and there is a 50 50 chance of passing the mutated gene on to your children. Parents of FH children have to make the very difficult decision about whether to put their child on statins to lower their risk of heart disease in later life.

  • I do think thought that the dangers of FH are exaggerated by reference to extreme cases of people having heart attacks in the their 20's. If I do have FH (which I very, very strongly doubt) I don't think I'm at high risk unless I smoke. No one in my family has had a heart attack at all that I know of who hasn't smoked at some point.

    And bear in mind 50% of people with known FH if left untreated will get premature heart disease, which mean that 50% won't. And that's only known FH. There's a bias in the statistics because the only people who get identified as having FH have relatives with early heart disease - so it could be factors other than the FH which are contributing, such as lifestyle. If we had population level data on FH, we'd know what the real risk was, at the moment we don't. My consultant also agreed with me on this!

    MY advice to anyone in the absence of better information from the NHS would be to look at your family history, it's the best predictor of your risk. And that's why I don't think I'm a high risk - I would be if I smoked, but I don't smoke and never have done.

  • As a result of genetic screening my 10 yr old has just started on statins but we have to wait until my 4 year old can. for people with FH statins are the only option as a change in diet doesn't have that much affect on your cholesterol levels at all. If we didn't all have FH I would most definitely adopt a low fat diet to see if that could have a significant effect on my cholesterol before resorting to statins. The only reason we all qualified for FH screening was because nearly all my mothers family drop dead of heart disease before they reach 50 and she was seeping cholesterol when pregnant with my sister.

  • That's about what my mothers was too and she had a good diet. so yes, A cholesterol check would be good. It's the first step.

  • Hi K8ty, that is an alarming family history, and that's why I say family history is the most relevant thing. I wouldn't say no one should take statins, (even sceptics like Drs Briffa and Kendrick admit they are appropriate for some people) but the NHS just seems to chuck them at everyone on the basis that they are cheap and supposedly safe!

  • I might well consider taking a statin if I had your family history, the point is I don't. None of my immediate relatives have died young, my father had a heart attack in his 50s and survived.

    I don't think I have got FH, my cholesterol is 7.4, it's dropped since I lost weight, but I'm still about 20 kg overweight and I reckon if I lost that weight my cholesterol would drop to about 6.

  • Maybe you could take one short term to get your levels down, it would be worth it I personally think. Atorvastatin is one of the milder ones as that's what they use for children.

  • Hi Clanchattan,

    You could get yours checked as well, with your mother's history. Sorry, can't remember whether you said she had early heart disease or not.

  • Probably if you don't have high cholesterol then your children won't have it, but worth checking.

  • What if the problem is glycosylated haemoglobin, for instance and oxidised cholesterol is just a symptom of the immune system trying to tackle the problem?

  • The problem in FH is in the re-cycling of LDL. The cells in the liver do not recognise the proteins on the LDL due to the genetic mutation which leads to a diminished number or lack of LDL receptors in the liver.

    I hate to say that I got some more information from Wikipaedia, but it does say that traditional risk factors also play a part in FH as well as a common abnormality in the prothrobin gene. I'm sure more research is needed.

  • that is one theory, that LDL circulates for longer and oxidises, but there are also theories that certain factors co exist, such as blood being increasingly prone to clotting (ie the prothombrin gene).

    I posted a study a while back which showed no correlation between cholesterol levels in people with FH and mortality rates. You are much more at risk if you have tendon xanthomas or corneal arcus (a white ring round the iris of the eye).

    FH, as I said earlier isn't one condition, its a group of mutations which are all being lumped together as having the same risk. I quite possibly have some slight deficiency in LDL receptors - it's not something that either happens or doesn't, the genes can be partially expressed.

    I can understand how this may be difficult to explain to everyone, and some people are quite happy to take statins, that's their choice. But the one size fits all approach really needs addressing especially with the 'possibles'. If I had the family history some people have I probably would seriously consider taking a statin. But I'm not convinced either that I'm at high risk, or that taking statins is the best way to reduce my risk. I think I'm probably at very slightly higher risk than average, and that lifestyle measures will probably help me as much as statins. One of which is avoiding stress, so the NHS really isn't helping here!

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