Hi everybody I’m just wondering about the dio2 mutation (if that’s what it is, but you know what I mean) my endo told me at my last appointment that there’s no point me getting the test done as she would know if I had it by my blood test results she said it was very very rare and that she had seen results of people who did have the mutated gene and mine were not like that. She also said if I did have the gene it would have affected me when I was a lot younger. The reason we were discussing it was I had asked her if I had a blood test and it showed I had the gene would she accept and respect the result, and therefore give me t3 she said she would but then told me it would be a waste of time as I didn’t need the test. She was also shocked that I could get the test done myself she had never heard of blue horizon or medicheck. So what do you think about that?
dio2: Hi everybody I’m just wondering about the... - Thyroid UK
dio2
I think you need to see someone who knows what they are talking about!....sadly many medics know little about the thyroid. If they did this forum would not exist.
She says it is "very very rare" ....on what basis did she make that claim! It may be rare but if is making people unwell it should not be rejected. She could only get a sense that you are not converting properly from your diagnostic (first) test once you take thyroid hormones that is not possible.
I am Dio2/homozygous (from both parents) and have self-medicated with T3-only for about the last year...long story going back decades. NHS did not recognise this, diagnosed Fibromyalgia, CFS and IBS and I became very ill....then found this forum and read much and found a way forward.
Was your result heterozygous(one parent) or homozygous. The latter according to research is a double whammy!
My endo accepted the test result as did my GP and both accepted my decision to self medicate - having learned about my personal research and advice from here. TUK is a well respected forum. I am due to see my endo to update him, he now thinks my adrenals also need attention and has suggested a test.
Have you got any other recent test results you can post which would help members advise.
It is important that folate, Ferritin, Vit D and vit B12 are optimal in order to help support conversion
Sorry, this is about me but I hope it helps point a way forward. You have come to the right place
Results please....
The bottom line is "How do you feel?"
Good luck...just ask.
DD
Thanks for replying I am trying to get t3 prescribed as I worry I might not be able to get hold of it in the future so that’s the path I’m travelling at the moment. I am up to scratch with all my vitamins. I will post them on here when I get them. The endow said she’s checking everything this time 😁
It’s also not the only reason people do not respond well to levothyroxine treatment. Very little research going on into this subset of patients. Endos see resolution of this problem with T3. So frustrating there is a modern/pharma induced resistance to using it. She should be treating your symptoms. If they’re not resolved on T4 she should trial T3.
Yes to be fair she is treating my symptoms but she is eliminating all of them one by one until she has no other choice than to prescribe t3 I on the other hand want her to illuminate my need for t3 before she eliminates everything else, but she’s in charge. She’s sending me for a brain scan as I have intermittent loss of smell and taste. I think that’s more the fact that I have post nasal drip all the time 🙄 ( I hope that’s what it is anyway 😁)
Are you grain/gluten free?
Hi loueldhen no m not gluten free as I love all things gluten but I am following the advice of Dr Isabella Wentz at the moment and taking the vitamins she recommends. I know it makes a lot of people feel better but for me it’s too much to give up. I’m doing quite well on my vitamins but feel I could feel absolutely tip top with T3 and I think why shouldn’t I feel tip top so I’m going to keep trying for it. When I first went onto levo and it was only a small 25 mg dose. I felt reborn fantastic alive and energised and that’s what’s keeping me pushing on. If I could feel even half that good again I’d be satisfied.
Doctors should not make statements like it is very very rare when they don't have such knowledge. Your endo hasn't got a good grasp of the DIO2 polymorphism. The research shows that patients homozygous for the rs225014 polymorphism have impaired psychological well-being on levothyroxine only therapy. They also have an enhanced response to combined levothyroxine / liothyronine therapy. This is not very very rare, about 16% of the population are homozygous (have the gene from both parents). Here is the original study academic.oup.com/jcem/artic... .
It's true you have it you will be affected from much younger but all this time your thyroid has been secreting T3. It's only when you lose this T3 from the thyroid that the polymorphism becomes a problem. (this polymorphism is associate with other conditions but we're not looking at this aspect). So, if you have the polymorphism from both parents you are likely to benefit from some L-T3.
I don't believe this polymorphism has a big effect but that's not a reason for not treating patients. I suspect there are other reasons patients need T3 and the best (only) way to know is to give them a trial. Until we understand everything about thyroid hormone we have to fall back on observing the response to treatment.
What you are referring to isn't a mutation, but a variation, and a fairly common one at that. However, testing positive for a variation isn't a diagnosis, and whether or not it affects you depends upon it being expressed or not, and to what, if any, degree it plays out. In recent years, I have tested homozygous positive for the rs225014 polymorphism, yet for the first 30 years of taking mono-Levothyroxine, was perfectly well. It was only with the menopause and aging, that numerous things went pear shaped and I became unwell. So it isn't a case of your result being accepted and respected, because all the test proves is that you have the particular variation tested for (one of the variations most commonly investigated has about a 16% occurance, if memory serves me well), but if you are experiencing particular problems, a positive result may explain why. So having the test will tell you if you are negative, or heterozygous or homozygous positive for the variation tested and might guide you in trialling alternative treatments to just Levothyroxine. But as has been said, there can be various reasons for poor T4 to T3 conversion and/or being symptomatic; and it's important to remember that the Panicker et al study concluded that "Our results require replication but suggest that commonly inherited variation in the DIO2 gene (the rs225014 polymorphism) is associated both with impaired baseline psychological well-being on T(4) and enhanced response to combination T(4)/T(3) therapy, but did not affect serum thyroid hormone levels."
I agree that other causes are likely to have a greater effect than this polymorphism. Just for info. there was another study that found that serum fT3 was a little lower in those with the polymorphism academic.oup.com/jcem/artic... .
Yes, I think that is a more interesting study tbh, with the advantage of focusing on hormone levels rather than quality of life factors, which are more nebulous and easier to dismiss I think.
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