Being treated for FH but no marker gene found when tested and have stopped statins

Hi,

Have just joined heart UK. I live in Wales and after finding out a family member has possible FH had my cholesterol tested - it was 8.6 with bad ratio of HDL/LDL but normal trigs. So because Wales has a free gene test was tested around a year ago but they could not find the normal marker genes. However the lipid clinic are still treating me as if I have FH because several members of my family have very high cholesterol.

I took myself off Lipitor 40mg last July after developing muscle and joint pains. Plucked up the courage to tell doc a few months ago who was not happy and so I went back on them again only to start getting the fatigue and pains again 2 weeks later. So the long and the short of it is have decided I dont want to take the bloody things - I feel as if I am poisoning myself.

Going back to the lipid clinic in a few weeks to get chol tested again and not looking forward to telling the consultant! I know I am taking a big risk with my health but apart from a cousin who had a heart attack at 51 (and who smokes, has bad diet, diabetes and overweight) no one else in my family has had signs of heart trouble until late 60's/early 70's. It does make me wonder if cholesterol is the whole story.

I am of a normal weight and take exercise every week/eat fairly healthily (am trying to follow Portfolio diet to some degree). Dont have diabetes or high blood pressure. The main thing that worries me is that I have had a lot of stress in my life and that is supposed to be a big factor in heart disease.

Not sure what to do really - has anyone else here been diagnosed with FH but heart disease not really prevalent in their family?

Thanks

24 Replies

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  • Hi deepblue, Welcome! I have a similar story. Discovered I had a cholesterol level of 15 and as I live in Scotland gene test available. Diagnosed with definite FH, No real history of heart trouble in my family except my brother who had high cholesterol and died at age 52 of a heart attack but he was also a life-long heavy smoker, drinker and had a kidney transplant. Not 100% sure which of my parents had FH - dad died aged 58 of lung cancer (heavy smoker) and my mum died age 85 not of a heart-related condition. Been on statins 17 years now and feel that the side effects are worsening as time goes on but not brave enough to stop taking them.

  • There are many types of statin and many people find that taking a different one makes a big diference. Other than that if you are strict with yourself on foods which affect cholesterol you could possibly manage with diet - it's worth a try.

  • If it's FH, diet won't reduce cholesterol too much. Not sure how much it matters in general, but it seems to in my family. Too many early deaths.

    Lipitor (Atorvastatin) caused me problems but I'm now on one which causes me fewer - details on my profile.

    Also, I think you may mean common marker genes - If I remember HEART UK's autumn patient conference correctly, they've not identified all the genes which can cause it yet, so the testing can tell you if it's one they know, but can't positively rule out FH.

  • ...It does make me wonder if cholesterol is the whole story...

    I'm replying to this because of the above comment.

    It strikes me that if you have been tested and do not have the marker for FH, then being treated for it is highly questionable.

    You might like to do some research on the whole question of the lipid hypothesis and whether you would benefit from a lifestyle change that would get you blood markers back to optimal.

    I'd suggest you get a copy of Anthony Colpo's 'The Great Cholesterol Con' or a slightly easier read by Malcolm Kendrick (book title the same; The Colpo version is better).

  • Did they do the FULL DNA screen, my test came back the 'usual' markers nothing found, but further investigation on the DNA found the mutated genes (I forget which ones).

    I have known I have FH since aged 7 (now 30) with a heathly heart thanks to Statins.

    Trouble is as wel,l we werent born text book, so sometimes finding the treatment suitable to personally you can be a trial and error process.

    Also being aged 60-70 these days ins't considered that old and people will have to work up to age 67 soon enough so it is advisable to talk to the consultant who will know much more than the Dr.

  • Yes I also had the gene test, but this being England it took me 3 years and a lot of hassle!

    Mine was negative for 95% of the 3 commonest mutations so I suppose there is a chance of you having one of the other 5%. My levels are very similar to yours and I have also had side effects. My first thought is that 40mg is a whacking dose for those sorts of levels, could you try a lower dose? I was only on 10mg which actually I've stopped for the time being. There are other drugs but I suppose ultimately the decision is ours.

    I actually think that gene testing is fantastic but it is raising all these ethical issues which maybe people don't think about. Statins for children being a major one.

  • I don't agree: I was on 40mg Lipitor from similar levels. The does was slowly increased until it got the desired reduction.

  • Was diagnosed with FH 20 years ago when my father had a heart attack at 69...he then took statins and lived until 85. My chol. was over 12. reduced it to 9.0 with diet then went on statins. My uncle also has it but has always refused treatment. He smokes, had a stressful job, eats badly and is fit as a fiddle at 87 so obviously there is more to it! I have had side effects for 20 years (am now on 60mg atorvastatin and 10mg of ezetimibe. Was once taken off for 3 months but as muscle pain did not go away doc said it could not be due to statins. Been worse recently so have seen consultant and stopped medication for 4 months. Sometimes wish I was brave enough to stop permanently.

  • Hi and thanks very much for all your replies.

    My test showed that I do not have the normal "North European" markers and the consultant says I am being treated as if I still have FH because of the levels of cholesterol and my family history of high chol. Was ok on 20mg of Atorvastatin but they upped it to 40mg as consultant said I have prob had high levels since birth so they wanted to get it as low as poss. It was then I started getting problems. I had my cholesterol checked at age 38 and it was only 6;.5 which I dont think was too bad and docs certainly were not very concerned back then. Am currently upping my exercise levels and eating pretty healthily in the hope it will go back down again - due to have test next week and see cons early April, so will see what she says and let you know!

    Thanks again and best wishes to everyone

  • I think "as low as poss" would have me looking for a new consultant if I hadn't had a heart attack. :-( I once had a GP tell me statins had almost no side effects, which not even the manufacturers claim - I switched GP, even though I wasn't on statins at the time.

  • Hi deepblue,

    Absolutely not an expert but a level of 6 doesn't sound in the FH bracket but I'm not a consultant! You don't say how old you are I am 58 with similar levels to you and I could have a combined familial hyperlipidaemia which also runs in families but is more benign. However your triglycerides would be raised and yours aren't.

    Sorry if this confuses you even more, I have spent the past 3 years being confused.

  • Hi aliwally

    I am 53, female and funny enough my uncle (from the HC side of family) has been diagnosed with hyperlipidaemia and has raised trigs. Am very confused too! To make it even more confusing my father (on that side) has had heart attack age 75 but his TC was around 6 and its not supposed to skip generations. Several uncle/aunts on that side have TC around 10 though. Weird - I dont think its FH but maybe something else like Polygenic hypercholesterolaemia? Obviously not an expert though! Not looking forward to seeing consultant as I really dont like statins because one auntie ended up not being able to walk for 6 months on them. I hope they can put me on something else or even just a lower dose of statins - I felt awful on them and kept getting cystitis like symptoms too which are apparently side effects.

    Thanks for the reply, good that we can try and help each other with different experiences.

  • You don't say how old you are or whether you are male or female. I wonder whether you have had your CK checked by your doctor when you complained of muscle & joint pains. I take Crestor, 40mg. & Ezetrol 10 mg. daily for FH & have regular screening blood tests. I ask for all my results, including those from hospital clinics, and keep my own checks. If I felt I was not being monitored, I would ask. Nobody looks out for you as well as you do yourself.

  • Controlling the carbs in your diet can have a dramatic improvement on lipids for many

  • Thanks Concerned, interesting clip.

    My last test was LDL 6.0, HDL 1.06,Trigs 1.5, so not concerned about the trigs but HDL is apparently borderline risk and LDL not good at all.

    Am currently cutting right back on sugar/carbs and increasing veg/fruit, lowering unhealthy fatty meats, upping nuts/legumes/low fat meats/fish etc, so will see if it helps. Had test last week, awaiting results and seeing consultant on Monday 16th. Keeping fingers crossed it has made a difference, really dont want statins!

    Best wishes,

  • Hi deepblue,

    Is that an LDL of 6 or a TC OF 6 ? Abbreviations get dangerously confusing at times!

  • Hi Aliwally, LDL of 6, TC of 8.6

  • Your levels are so similar to mine. My LDL was 5.5 and TC of 8.9 although my triglycerides were 4 point something pre statin treatment.

    I have an appointment on Thursday and I haven't been taking anything since early January this year, so we could compare notes later this week.

    I'm prepared for " telling off" which is hard at my age (!) but perhaps another piece of this cholesterol puzzle may fall into place.

  • Ha Ha, Yes I am waiting to be told off too! The more I read about statins though the less I want to take them. To cap it all my father has just been very ill with raised liver enzymes, they say its not the statins but they still dont know what it is, so I am suspicious. His sister was also on them and ended up in a wheelchair for 6 months. My other aunt has unfortunately just passed away from bladder cancer after taking statins for 17 years and that makes me wonder too. Maybe I am jumping to conclusions but I do come from a long lived family with no early heart disease despite very high cholesterol (most of my uncles/aunts have cholesterol of over 10). The only one who has had heart disease before the age of 70 is my cousin who also has diabetes/weight issues/smokes/high blood pressure and is American. I dont think cholesterol is the whole story and am just going to take a chance I think and hoping I dont get any other of the risks for CHD.

    Will definitely have to compare notes!

  • To be fair, I have a raised liver enzyme (bilirubin I think), but it stayed raised even when I didn't take statins. Hell, my liver doesn't work right and that's FH so it's not really a surprise if something else is wrong with it.

  • Hi Aliwally,

    Just been looking into FCH and it would appear that some people with this present as TC>6.5 and normal triglycerides. I always thought you had to have high trigs with this syndrome but apparently not. It also says family members may be mixed with some having high trigs/normal chol. Seems to fit and will ask consultant if she thinks I have this and not FH as previously diagnosed.

  • I think you also get a family history of insulin resistance and hypertension (both in my family) and the condition can present differently in members of the same family.

    I only got this information from a very detailed letter from a consultant that I saw privately as it was at the time I had been told I "possibly " had FH but genetic testing was not available as they had run out of money. At this point I had totally lost any confidence in the NHS clinic I had been attending.

    Same consultant told me it typically presents after the menopause in women, but is a more benign condition simply because you don't have very high levels from birth as in FH , but levels rise slowly as you get older. There is no genetic or diagnostic test, making everything much more complicated (and this cholesterol business is complicated enough already!). Good luck.

  • Thanks for the info Aliwally,

    We do have diabetes in our family too (keeping fingers crossed I dont get it). Funny enough I have been trying a lower carb diet recently and its the only way I seem to be able to lose weight around my middle which is a sign of insulin resistance.

    Not very encouraging results from the NHs clinic for you was it? Not surprised you lost confidence in them. Still, its a relief if FCH is more benign.

    Not being able to find the gene fits in with me poss having FCH too as they couldnt find the normal FH gene in my test.

    Well am going to go armed with this information next week and ask if there is a possibility I might have FCH instead. Great when you have to do some of the consultants job for them isnt it!!

    Thanks, hope you get on ok on Thursday.

  • Hi, just watched the youtube clip, very interesting. Major concern for me was that Simvastatin should not be given over 40mg. I was on 80 for nearly 20 years. Andy idea why and is that rule only in America (I am from UK).

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