Possible FH

[j--9]

Hi all. This is my first time posting. I'm a 32 yr old female. Always struggled a bit with weight. I've had elevated cholesterol levels since they started testing it. For the past two years my gp has been trying to get me to take statins but I refused. I then lost 2 and a half stone and was eating freshly cooked meals every night and taking various supplements. Another blood test came around and I was looking forward to seeing my levels drop....but they had risen! My GP couldn't understand it and neither could I. Of course he wanted me to try statins again but I asked for three months as a last ditch attempt to lower my levels. Took up regular exercise as well as carrying on my healthy eating. Blood test came back and they'd risen again (slightly). I gave in and accepted the prescription for 20mg atorvastatin as my gp was sure it was genetic. This was 5 weeks ago. I've been suffering some side effects like sore muscles and joints and a bit of nausea but I'm hoping it will pass.

I've read up lots about FH and I agree that it's a strong possibility. I have a xanthelasma on my eyelid and my mum has very high cholesterol too. Sorry for the long post just wanted to tell my story so far. I'm having blood tests this week so will find out what my numbers are soon. Thanks

[j--9]

Thanks Traci

Yes I've had my two children's cholesterol tested a couple of months ago. One is 15 year old and one is 7 year old. They're both fine for now, although my seven yr olds is on the high side of normal so will monitor it. I'll let you know what results say.

Janine

[Hidden]

Hello, you don't say whereabouts you live, but your GP should refer you to a lipid clinic.

It's not clear if the blood tests you're referring to are genetic testing or just more cholesterol tests. If your local CCG (clinical commissioning group) doesn't fund genetic testing for everyone, you can put in an individual funding request - your doctors should be able to advise on this. My CCG has agreed to fund genetic testing for me via an individual funding request for me, even though they don't pay for it normally.

[j--9 in reply to Hidden]

Hi. I live in Devon. I'm not sure if they do the genetic testing or not. I will speak to him about it when I next see him. The results I was talking about are just my latest cholesterol numbers to see hoe effective tge statins have been and lft's to check my liver. I have a history of fatty liver but enzymes have been mostly good the past couple of years. I brought this up with GP and ge said that atorvastatin can often improve fatty liver and I have read this too. I'm a little reluctant to go for the genetic testing as I know it effects your ability to obtain life insurance, mortgage etc

[DakCB-UK in reply to j--9]

Sorry but that ship has sailed. You've been diagnosed and should disclose that when applying for life insurance, travel insurance and so on. Be very careful which insurers you ask, as getting a "has been declined insurance" black mark against you is an even bigger problem. That said, Holiday Safe has accepted me for travel insurance even though I've got that problem, although I think I've yet to tell them about my latest medication change... wish me luck!

[Hidden]

Hi Traci

It's now down to your local CCG as to whether or not they will fund it. If you had yours done a few years back then the situation might have been different, but at the moment the CCGs in greater manchester won't pay for genetic testing - unless you succeed via an individual funding request. I feel fairly sure they only approved mine to stop me going to the parliamentary ombudsman as I made it clear I would do that. But they still don't fund them for most patients.

[Hidden in reply to Hidden]

And I haven't had mine done yet, just got the funding agreed.

[Hidden]

Hi j-9, re insurance. If you are taking out insurance you have to declare any factor that you may reasonably think would affect the contract, even if you aren't specifically asked. So if you're taking out life insurance or health insurance, it would be a good idea to voluntarily disclose your possible FH diagnosis.

[Aliwally]

I was really interested to hear about the individual funding for genetic testing. I had the same problem 5 years ago. Long story and going privately I found a hospital that would do it for me on the NHS setting two consultants against each other, but so what. They were much more powerful than me.

Again it seems to be this problem of accurate diagnosis that is the problem. Genetic testing (although not 100% accurate) at least told me that it was highly unlikely. Having tried every statin known and various other meds. plus reading about every article that has ever been published about statins and FH I have decided to call it a day with medication. I have to say if I had a TC of 15 and a positive for FH plus several family members dying early , my decision would be different, but I would opt for the minimum dose of statin possible.

Crippling muscle cramps and a family history of muscle disorder decided it finally for me and it was my choice. My GP is surprisingly relaxed about it despite a TC of 8.9. (me not him). The genetic testing was a part of the decision making for me.

[BAUS in reply to Aliwally]

So how are you managing your cholesterol now? do you take a different statin or are you using natural methods or diet ?

[suzieqq]

How do you go about getting genetic testing? What is the test called?

[sandybrown in reply to suzieqq]

Watch Horizon on BBC2 this Wednesday at 8 PM.

[DakCB-UK in reply to sandybrown]

tvguide.co.uk/m-detail/2184... says it's called "Are Health Tests Really A Good Idea?"

[DakCB-UK in reply to suzieqq]

Ask for it. I don't think it has a single name, but when I asked for "genetic testing for FH" then they seemed to know what I meant... and then refused, saying they had no funding for it!

I have heard a firm called 23andme.co.uk advertise on the radio, which is another option that includes some statin-related tests, but it's not cheap.

[Hidden in reply to DakCB-UK]

Hi, private genetic testing for FH if you don't know what gene is causing it will cost about £1000.

The firm you heard advertising on the radio will probably just be doing basic cholesterol tests.

[DakCB-UK in reply to Hidden]

Please At least look at their website before posting silliness.

[Hidden in reply to DakCB-UK]

You will not get genetic testing for FH for £125.

[Hidden in reply to DakCB-UK]

And the 'statin related stuff' they test for is 'inherited thrombophila' from looking at the site.

You will get this test on the NHS if you have a thrombosis.

nhs.uk/conditions/thromboph...

[Hidden in reply to Hidden]

correction, you can get it on the NHS.

[Hidden in reply to DakCB-UK]

If your hospital refuses you need to put in a formal complaint. If they still refuse you then complain to the relevant CCG. Make clear what the effect of refusing genetic testing is having on you.

The thing you need to know is that NICE quality standard 41 says you should be offered genetic testing. You can find the whole guidance online - just google NICE quality standard 41. Also the guidelines for FH are NICE CG71

[sandybrown in reply to DakCB-UK]

DNA-screening test 23andMe launches in UK after US ban

[Hidden in reply to sandybrown]

Hi Bala

As I pointed out above they screen for various conditions, but this won't include FH.

They were banned in the USA because they didn't have FDA approval for what was deemed medicine as far as a I know.

There are over 1000 possible known mutations that cause FH, so they really aren't going to do that for £125.

There have also been questions over the reliability of their testing.

theguardian.com/technology/...

[BAUS]

Hi There yes it sounds like yours is genetic judging by the fact it has risen despite your weight loss (congrats on that btw) and your attempts ... unfortunately the fact that you are only 32 and your cholesterol is high does suggest its FH. Im sure youve done a lot of research so Im not sure if youve heard of the blood group diet? its worth trying. The book makes a lot of sense. The website is dadamo.com ..whenever I dont feel well I go back to eating right for my blood group (B+) you will find it interesting Im sure and maybe create your own diet that will help...good luck

[Wyvon]

I was going to join this chat earlier but others covered what I would have written. It is now a week since you posted so wondered what your thoughts are on all the suggestions?

[j--9 in reply to Wyvon]

I wrote another post explaining my latest test results. I haven't seen Dr yet to ask about genetic testing

[Wyvon in reply to j--9]

I must learn to be more patient. You originally said you were having blood tests so wondered if you had got the results yet.