familial hypercholesterolaemia (hereditary high cholesterol)

[gr8kids]

Sorry for the long story...Wonder if anyone has any information or simillar experience please?? First of all let me say that I am 36yrs,eat healthily with low carbs, not alot of red meat loads of fruit and veg and only weekends do we have chocs and crisps. I also go to gym at least 4 times a week and do interval training on a treadmill for 20 minutes, sit ups and some weights which total about 45 minutes at the gym. I'm also healthy except I do have IBS but keep that at bay with correct diet. Sunday at midnight I woke with heavy feeling on my chest and my heart rate going really slow, also difficult breathing with pressure on my chest and heaviness in my shoulder and left arm. This lasted 30 minutes and then eased off. Didn't think it was anything big. Then again Tuesday at 8am the same thing happened again. Ended up NHS direct calling ambulance for me. After a night in hospital and numerous tests my heart is all clear (gratefully) but I have familial hypercholesterolaemia (hereditary high cholesterol). Now my cholesterol was only 5.7 which isn't very high but obviously has put strain on my heart. This was the scariest thing that has ever happened to me. My grandfather died in his 40s and my grandmother at 65. Does anyone have any advice or experience to share please?

Very scary for you, so glad you got checked out and heart is ok!

dh has FH, so do his brothers - and so does one of my (adopted) cousins. dh started taking statins in his thirties, about your age - and is absolutely fine now at the age of 50: his heart is in great shape, he had a scan a few years ago for reassurance. He's had no side effects from the statins, just occasional blood tests to keep an eye.

One of dh's brothers chose to go for increased exercise and very low fat diet instead, and has lowered his cholesterol - but not as effectively as dh on statins: I think it can be hard, when its genetic, to manage with diet alone, though not impossible for some.

My cousin has had high cholesterol since she was a child (not overweight, eats sensibly, doesn't smoke) and is nearly 40 now - she has been on statins pretty much since they were invented. No side effects that I know of.

What is your GP suggesting?

Thank you Elibean. Makes me feel bit more positive knowing there are other people out there that have it but are ok. Well GP has decided to not give me any meds unless it's truly necessary and until then I have to be more aware of what I eat and see if that makes a change. I don't smoke so thats a good thing. I think that being alone with 3 children and having my hubby in Afghan is a bit worrying now that I've had a shock like this and worried it will happen again. My cholesterol wasn't extremely high but higher and thats even after my lifestyle being as it is....bit annoying!!! Also since being back from hospital I am still feeling uncomfortable with tightness around my chest but not bad that I have to do anything about it and also I know my heart is fine but, it must still be my cholesterol playing havoc with me

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I have it too.
My dad and his parents seemingly suffered too, my bro seems to be unaffected though.
My dad had his first heart attack at only 43, and had only recently been diagnosed with high cholesterol, his total reading was over 11!!!!
I've been tested since I was 18, every 2-3 years and I've been fairly consistently around 5, either just under or just over, with one blip that hit 7.2 when I was 21 (and on a healthy and vegetarian diet)!
I manage with diet at the moment, but at 32 I know it might only be a few years before I'm on statins.
I've had to alter my diet in the last few years to gluten-free and that has raised my cholesterol level slightly, pregnancy did the same thing.
I'm glad I started monitoring it early, at least I won't get a big surprise later on :)

I hope you feel better soon.

I may be mistaken, but I don't think high cholesterol on its own would cause those symptoms? It can cause cardiovascular problems long term...are you sure this wasn't just mentioned in passing rather than as a reason for your symptoms? Also, I thought familial hypercholesterolaemia causes sky high levels, whereas according to my textbook 5.7 is only borderline high...mine was 6.7 but the Dr wasnt too worried as thge ratio was OK

Well I'm not sure about high cholesterol causing those symptoms alone but that's what happened to me and all other tests were clear. I've never thought I would have a problem with high cholesterol as I am healthy etc. What they said was that fortunate that I am healthy etc as this has helped. But, at same time I have to keep an eye on it. I've just found out that my mother is on simvastatin for high cholesterol and has to be tested every couple months. I am lucky that mine wasn't extremely high but goes to show that if I didn't eat and excercise as I do that it would be more serious and I have to keep on top of it.

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If you have FH, a definitive diagnosis can only be made through DNA testing. It is unlikely that they would run this test overnight in hospital. FH is the most common cardiac genetic disorder (1:500) but sadly many GPs are clueless. The treatment is high doses of statins, significantly higher than 'normal' people with heart disease get.

Please print out these NICE guidelines from 2008 and ask your GP for a referral to a specialist. If they will not refer you, ask to be referred to the Primary Care Trust's Exceptional Funding Panel. If they turn you down, write to your local MP. If push comes to shove, you can get the genetic testing done privately (I believe Great Ormond Street and Bristol Genetics Lab do it).

Can you tell I'm a frustrated NHS manager who did all the business planning for this but got turned down?

Thank you for the info. Was unaware that the test couldn't be done overnight but they then probably assumed that seeing as my heart tests are ok then I have FH because of the level of my cholesterol and family history. I have now also found out that my mother had a heart attack in 2000. It's crazy because the more digging I do the more bad news I come across. Yes you are clearly frustrated which I can understand. I desperately need to get this sorted out for myself and my 3 children. I am seeing the doc again tuesday and will push for what I need done because this can be very serious if left unattended to.

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Anyone else have any experience of this please?