New Diagnosis - or really mistake by hospital....

Traci
Posted by Traci
4 Nov 2011

I have been for my Consultant appointment this morning and I have been informed that an error has been made on correspondence. For the last 2 years I have been under the impression I have familial combined hyperlipidaemia where in fact I have type 3 dysbetalipoproteinaemia. For some reason it was incorrectly noted on my records. I am really pleased as I had exchanged messages on here with Aliwally saying I was going to ask for my diagnosis to be checked as I felt I matched the criteria for dysbetalipoproteinaemia better than hyperlipidaemia.

The two conditions are extremely similar and treatment is the same. The main difference is that furring up occurs in the arteries of the legs, so they finally have taken my night cramps in my foot and pins and needles in my hands seriously and have changed me from 40mg simvastatin to 5 mg rosuvastatin.

Looks like I will have to do some research now on my new condition!

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23 comments

Concerned
4 Nov 2011
According to a number of emminent scientists/doctors on Fat Head the movie, CHD is caused by smoking, inflammatory agents such as too much omega-6, stress, and elevated blood sugar.

They also disclose that statins are not beneficial to women at any age; low cholesterol may even be dangerous.

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MikePollard
5 Nov 2011
This is a subject I have hesitated to comment upon for obvious reasons. However as it has been brought into the open I'll tentatively put in my contribution.

During my research into the whole cholesterol thing I too have come across the 'women do not benefit from taking statins'. Indeed, my own mother in law was advised to start taking them, so I put together my concerns (including the bonuses paid to doctors if they get their cholesterol/patients treated stats up).

All I was did was to present her with the information I had and ask her to make her own mind up. Incidentally, the package I gave her I said she might like to leave with her doctor should she choose not to go down the statin road and were he to demand an explanation.

By the way, a really good source of information and an intro to the subject is Dr. Malcolm Kendrick's 'The Great Cholesterol Con'. There is another of the same name by Anthony Colpo (which I've just ordered) but apparently it takes a bit more chewing. I don't go along with all Dr. Kendrick says, and there are a few glaring typos, but the references are impeccable and it's very funnily presented. There is a section on statins which women will be of interested in, especially if they have a cholesterol level lower than 4mmol/l. It's available on Amazon for less than a fiver including postage. Might be the best investment you'll ever make!
Mike Pollard

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Aliwally
5 Nov 2011
Hi Traci,
I have so much to say to you that I don't know where to begin!
I am really pleased that you have got an accurate diagnosis at last. Some things that we have talked about just didn't add up and it was a shame that we didn't have more time to talk at the Conference but maybe it wasn't the place. I was told that FCH comes on later in life (you are much younger than me!) and that it doesn't have a monogenic cause like FH, that is they can't identify one gene.
Also your triglycerides were sky high, mine were "only" 4 point something.

I think you can now be elevated to the rank of informed patient for questioning your diagnosis and thank goodness some of us have. I have lots to say on the question of women and statins but will leave that for another blog!

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Dawnydreakbreak
5 Nov 2011
I am slightly dismayed that anyone can question the effectiveness of statins in woman with FH at preventing premature CHD. While i have no interest in who produces what and the politics behind it . What i am annoyed about is that for people in need of the protection this group of medications give may be left feeling anxious, or even a politically correct worried practioner may delay or not even offer the medication.
I have been on statins for 23 years and so has my mum and without them we both would certaily not be here.

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Aliwally
5 Nov 2011
Yes, I would agree that there is a real difference between FH , other inherited lipid disorders and people having slightly raised cholesterol. In FH there is a genetic mutation or "change" (euphemism) which shouldn't be happening.
I once heard FH described as "a genetic disease hidden in a public health problem" which I thought was a really good way of describing it.
I think that's why accurate diagnosis is just so important, not only for the person but their family as well.
I would not question the use of statins for FH, they are probably life saving , it's just when that's extrapolated to giving them to everybody over 50 or people with slightly raised levels. This just seems to confuse the issue.

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Heart_Linda
Heart_Linda HEART UK
7 Nov 2011
Traci
Pleased to hear that things have progressed for you. It is a great shame that a mistake was made on your notes but importantly it has been rectified, and potentially clinically important symptoms are now being taken seriously.

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Aliwally
7 Nov 2011
Linda,
Would it be possible to put something like a brief description of all the inherited lipid disorders on the HEART UK website with maybe suggested further reading.
It seems like some of us are a bit confused by what we've actually got (not helped in my case by the wrong diagnosis!)
All my information about FCH came from a detailed letter that a consultant wrote to me after a private consultation and then just everything fell into place, but I don't think that is the way things should be done ideally.

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Traci
8 Nov 2011
Thanks all for your comments.
I am not holding any strength in statin therapy not being suitable for women - I think it's a lie made up by men because they know we are going to take over the world ;-)
I wholeheartedly agree with Aliwally that HUK should have. A section that covers the main lipid disorders, including signs, symptoms, diagnosis and treatment and any anomalies associated with that particular strand. For example I believe that I am at higher risk of my leg arteries furring up than my heart ones.

I have to admit that the Dr was hoping to scoot me through my appointment and looked very dismayed when I brought out a list and said 'actually I have a few questions...' as it happens once he realised that they were sensible questions he was very happy to chew the fat for a good 20 mins and give me detailed explanations, which is always a bonus!

The only down side is that he didn't give me his name!!

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MikePollard
8 Nov 2011
Just out of curiosity I looked up dysbetalipoproteinaemia (Cut and pasted).

I turned up this site as the first Google result:

www.gpnotebook.co.uk/simple...

Who offer the following:

Management:
seek specialist advice
statins are not generally very effective in the management of a type III hyperlipidaemia because of the mechanism of the hyperlipidaemia being related to excess VLDL particles (see linked item). First-line treatment is usually with a fibrate or fish oil.

Regards,
Mike

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Traci
8 Nov 2011
I am on fibrate therapy alongside my statins - and yes I am very aware of the contra-indications of taking these medicines together.

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DakCB-UK
8 Nov 2011
Please don't only use Google: it's very dangerous because you don't know what scam or quack will hit results page one today.

Double-check things against factual controlled public sites like www.evidence.nhs.uk/

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Aliwally
8 Nov 2011
I found GP Notebook to be excellent on lipid disorders though, as it is just a reference guide on the physical signs, symptoms diagnosis of the various lipid disorders. In actual fact, it became my "Bible" in the early days when I was getting either no or conflicting information from the various health professionals.

However, I do agree that on the whole you have to be extremely careful with your sources and www.evidence.nhs.uk/ is particularly informative and factual.

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Traci
8 Nov 2011
Thanks for the websites guys, I will take a look at them. To be honest I get so bogged down with all the different sites and some of them appear to be extremely dubious that I tend to stick to couple of informative books that I have picked up off Amazon that were recommended by HUK.

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MikePollard
8 Nov 2011
I too would be very careful when Googling. However, I don't know about you, but GP notebook looks pretty sound to me. Trying to winkle out information from www.evidence.nhs.uk/ is pretty tough.
I know what I'd do before taking statins - try the fish oil and make sure my weight etc was under control!
Mike

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Traci
8 Nov 2011
Mike, I hope you don't mind my asking, but do you have high cholesterol or inherited high cholesterol? I couldn't see any reference to it on your hypothesis thread? Or are you on here because you have an interest in cholesterol due to your recent weight loss experiences?
Thanks,
Traci

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Aliwally
8 Nov 2011
Sorry to bog you down Traci but how are you getting on with research on your "new " condition. I think I have cracked the ApoE gene on chromosome 19 and the fact that you must have E2/E2 phenotype whereas I have the common E3/E3 but I am getting a bit bogged down with the VLDL particles migrating to the beta position on electrophoresis !!!

How about a glossary of terms on the HUK website as well, most of us I suspect are past LDL and HDL and on to apolipoproteins, VLDL and IDL and jolly confusing it is too.

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MikePollard
8 Nov 2011
No, Traci, my cholesterol is OK (Checked July). However last Friday I requested a full blood workup to see what my triglycerides etc. are (having been on a full on cheese, butter, bacon, coconut oil, meat, dripping, double cream lifestyle (not diet) change - for about 9 months - that also involved cutting carbohydrates drastically.) I'll post the results on 22/11.
So far I've effortlessly, and enjoyably, lost two stone (and counting) but in the meantime my focus has turned from losing weight to the broader health issues like heart disease and diabetes etc. that is plaguing mankind.

Now, in the course of my research I have read many books on the low carb/high fat approach and I am convinced it is the answer to these problems. I have in the past read and followed the traditional low fat/high carb and know where Dean Ornish etc are coming from.

However, on reading (not just youtubing) Gary Taubes, Anthony Colpo, John Briffa, Zoe Harcome (candida obsession!) Malcolm Kendrick, Greg Critser, Robert Lustig, Paul Jaminet, Atkins, Andreas Eenfeldt, Justin Smith (got it wrong on page181), etc etc these people have presented me with the solid science that says the cholesterol theory of heart disease etc is totally wrong. In all cases there are references to the studies that can be checked by anyone with a computer. The problem is that the heart/cholesterol thing is so entrenched that people just wont entertain the advice we have been fed with for so long needs a severe coat of looking at!

I have an up coming blog on research which I'll be posting soon.

You and Aliwally seem to be the most proactive on the blogshere (correct me if I'm wrong) and I just wish you could be persuaded to read (for a start) Dr. Kendrick's book, if only to tell me it's a load of old toffee.

I'm not sure of the protocol allows it, but here's a genuine offer.
If Linda is willing to give my email to you and Aliwally, and you contact me direct, then I'll send you each a copy direct from Amazon for free.
Remember - it's only information, it won't bite!
Like I've said before, look at the other side and dismiss it if that is what your conclusions are.

Change will not come from the top down, there are too many vested interests; not the least of which is the billions and billions of dollars which swing on Ancel Keys' hypothesis. The only way it will change is from the botton up - from men and women like me who have no vested interests other than anger at entrenched attitudes that are literally killing people.

Regards,
Mike

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Traci
8 Nov 2011
Mike,
I feel that the big issue here is that if any of us going looking for information to support our own particular theory we will find several studies to back it up. Hence me not really being interested in further debating the issue at this point.

I have very high cholesterol, very high triglycerides and my arteries were furring up. End of. Nothing to do with diet but everything to do with genetics (thanks mum and dad!). I have researched, I have been to conferences and I am content with the diagnosis and the treatment I have been given.

Thank you for your kind offer of the book, but I shall decline.

Regards,
Traci

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MikePollard
8 Nov 2011
Fair enough Traci, but I don't have a personal theory, but I am hungry for information.
Here's how I dig around.

www.drbriffa.com/2011/11/08...

Then I look to his references (annotated) which takes me to:

www.bmj.com/content/340/bmj...

Anyone else want a free book?
Mike

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Aliwally
9 Nov 2011
Hi Mike,
I read "The Great Cholesterol Con" about two years ago and I regularly read Dr Briffa. Malcolm Kendrick is a cracking good read and in fact all the info I have about lipid metabolism comes from him.
I too hate the "hysteria" abut cholesterol and statins but I have come to the conclusion that you must separate that from people who have a genetic mutation and their lipid metabolism is just not working properly, just like any other metabolic disease.
No wonder the general public are confused if medics get it wrong as well and then add to that the huge amount of money tied up in drugs and "cholesterol lowering" foods. An explosive situation.

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DakCB-UK
24 Nov 2011
Aliwally is right: the FH population reacts differently. I'm bordering on underweight and still my untreated cholesterol numbers are pretty scary.

We need better identification of people with FH - which probably means cascade testing, genetic testing and removing the insurance penalties we suffer - so that we can have better studies of FH so that we can have better treatments. But we're not even getting the testing in England yet.

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24 Nov 2011

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24 Nov 2011

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Aliwally
25 Nov 2011
On genetic testing I am awaiting my results . This has taken three years and some pretty creative thinking. I am expecting them to be negative for FH but will keep you all informed when I get them.
How can we learn more about FH if we don't actually know who's got it and the course of the disease.

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barmbat
24 Mar 2012
Hi Traci

So pleased you've finally got the correct diagnosis. I hope you are feeling better. Am going to read about dysbetalipoproteinaemia now.

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