DNA Testing - The results are in!!

I had my suspected FH DNA tested this March, I finally got the results back yesterday which confirm in fact I do have the mutation gene for FH.

So it is now official, not that it makes a lot of difference to my treatment as I have known since childhood (now 29) I had raised levels that have been monitored and have been on statins for ten years.

I also have PA, and Reynaulds (I believe primary), but all in all I feel I am quite lucky to only have these few problems so not complaining really as my health in general is currently good.

Well that is all, lol now on to getting the rest of the family checked for sure!!

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  • Thanks Traci

    Affected with Familial Hypercholesterolaemia - deletion of exons 2 - 6 of the LDLR gene. to be honest no idea what that means but agree its nice in a way to have the actual confirmation that explains my high levels.

  • Hope you don't mind me asking - but do you mind sharing what your total cholesterol level and LDL level was?

  • Hi Architect,

    No I don't mind, latest results taken 26-MAY-11 are:

    Total Cholesterol (mmol/l) - 7.8 (<=4)

    Trigycerides Fasting (mmol/l) - 0.72 (<=2)

    HDL - C (mmol/l) - 1.97 (<=1.7)

    LDL - C (mmol/l) - 5.51 (<=2)

    Not the best results, but have had much worse! since this test I am now taking Ezetimbe 10mgs so hoping the next one will go down!!

  • Thanks. From your previous post - these are readings whilst on Statin Treatment?

    The reason I ask is that my reading (without any drugs) is 8.2 and the specialist is in two minds ref FH due to no other symptoms e.g. Simon Broome criteria. We are discussing DNA testing. I wanted to get a comparison with someone who has been diagnosed with FH as to what range their cholesterol levels were pre-drug treatment but as you say above, you've been on Statins for over 10 years.

  • Yes I was and am on Rouverstatin 5mg or whatever it is called for about 6 months, previously I had a 1 year or so break and when I did my level went from 6.9 or so to 9/10 ish.

    Don't know if that is helpful or not!

  • Hi Architect1337. I'm pretty sure I've FH (compelling family history, but diagnosis predates DNA testing) and my unmedicated levels a couple of years ago (not pre-drug, that was decades ago and I think about 10...) were total 8.7 with LDL 7.5, so you're not that far away from me. I think my relatives had higher (total up to 14 I think) and lower pre-drug levels (below 7), so FH-caused values can vary quite a bit from person to person even when it seems likely to be the same type of FH.

    zphelps - may getting your test results help!

  • Hi everybody,

    Don't know if this is helpful but I am unlikely to have FH ( 2nd opinion) and my pre drug levels were 8.9 (LDL 5.8) Statins bring my levels right down to about 4.6. but when I stopped them they went up to 8.1 ( LDL 5.5).

    It seems to be really hard to get an answer to the question if I don't have FH then what do I have but I have gradually come to work that out with extra medical help. You don't tend to get high triglycerides with FH.

    If I definitely knew I had FH I would have a totally different view on taking statins as levels are higher, you have it from birth and somehow knowing it is a genetic defect turns it much more into something that should be treated as an illness. My opinion only.

  • PS I think an exon is the bit on a gene that contains the coding for things to happen! I am not any sort of expert and got all my info about DNA and RNA from Bill Bryson's A Short History of Nearly Everything. A very good read!

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