This is a really helpful study to take a look at ncbi.nlm.nih.gov/pmc/articl...
It shows that the risks of familial hypercholesterolaemia differ HUGELY depending on which gene mutation is involved. FH isn't one condition, it's a collection of different gene mutations which are only grouped together because of the presence of raised cholesterol.
This also shows why DNA testing is so important. Pity it appears no one in NICE has bothered to read it.
Traci, am I understanding you correctly? Are you saying that you can get this gene testing done if you live in Wales or Scotland but it's too expensive for the poor English to invest in the software - surely not ;-/.
FH is monogenic, that means it is caused by one single mutation , but it does depend on what chromosome.
If it is polygenic it is not FH, that is my understanding. Yes in England the facilities are much more patchy.
The study quoted says mutations on 3 different genes (apob, ldlr, pcsk9) are all classed as FH. There is also 'polygenic hypercholesterolamia' but it means, as I understand it, multi factorial rather than mutations in more than 1 gene.
Also and I hope Traci won't mind, but her lipid profile was different because of her very high triglyceride levels typical of type 3. You do not see this in FH.
This should have given medics a bit of a clue, but I think it was a while before she got a definite diagnosis as well.
Yes, there's also plenty of data that environment matters a lot in FH, (I posted some other studies to that effect earlier) but there are some people who do die early despite being normal BMI, non smokers, moderate drinkers, no signs of diabetes, plenty of exercise etc. And that is down to genetics, but only in a small number of people who meet the criteria for FH.
It's like the BRACA gene - if you've got that specific mutation you have something like a 90% chance of getting breast cancer, no matter what you do. Then there will be people who have a family history of breast cancer and are at slightly higher risk than normal but for whom lifestyle factors make a difference.
My thoughts on FH by the way, are that the high cholesterol is a red herring. The gene mutation causes atherosclerosis, but not because of the high cholesterol - even though that study does claim otherwise. There are other studies that show cholesterol levels had no bearing on age of death in those with diagnosed FH.
It has been enlightening, I agree. I have read somewhere that some researchers think it's the inability of the cells to utilise cholesterol rather than the high blood levels themselves. There definitely needs to be more research into FH and why some families are particularly affected and others not.
Particularly important now that DNA testing makes diagnosis accurate (if you can get it that is) and FH children are being prescribed statins.
DNA testing for FH enlightened approach identify phenotypes by gene mutation. accurate diagnosis what is not to like.
Hi Traci
It depends what foundation trust you come under I think. Some pay for it, some don't.
My relatives have mostly had their cholesterol tested, and like me, they are mostly refusing statins. I think it must be genetic.....
What is statins , is it something you can use to cure or something to keep your sugar levels
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