Can anyone answer this for me

[posthinking01]

Hello you wonderful ladies and gentlemen on this forum - I wonder if you can enlighten me.

Are there more genes that could be deficient e.g. D101/D102 are there any others?

Also I had a thyroid ultrasound scan and I can't copy the results here as unable to edit the document.

I am transcribing here - this was undertaken 2021

Thyroid Gland appears atrophied and small in size with reduced echotexture and irregular outline in keeping with known thyroid dysfunction and long thyroxine intake - no goitre - no thyroid nodules - normal vascularity - no features of thyroiditis. No cervical lymphadenopathy.

My question is: if I have no signs of thyroiditis - is it Ord's as I always thought because no goitre but dose Ord's present without thyroid inflammation i.e. itis. I also understand that Ord's does not show up in blood test results which happened to me with over 100 very serious symptoms and I was told my blood tests were always normal for over 15 years until I got help outside the UK.

Any help would be much appreciated.

A

[helvella]

The genetic background to thyroid issues has much yet to be discovered.

The dio1 and dio2 (that is, three letters and a number) genes are simply well-known and much discussed. But there are many others which affect thyroid including dio3.

While dio1 and dio2 might be usable to persuade a consultant to prescribe, they are far from the full picture.

Even if we have particular variants, whether or not they have any impact is another whole layer of complexity. Genes can be switched on and off.

[jimh111 in reply to helvella]

Just to add the polymorphism to DIO2 (and DIO1) are common polymorphisms, there are no doubt a number of rare ones that have not been investigated.

[posthinking01 in reply to helvella]

Thank you Helvella

[Sleepman in reply to posthinking01]

More from our @Helvella here.

healthunlocked.com/thyroidu...

I have this link in my notes when looking at genes

paulrobinsonthyroid.com/dio...

Quote from Paul R

[posthinking01 in reply to Sleepman]

Thank you sleepman !

[radd]

posthinking01,

DIO2 is the most common impairment tested on the forum because it’s responsible for T4 to T3 conversion and especially in the brain, so gives us some indication of the need for T3 meds. There’s also DIO1 also responsible for conversion, and DIO3 that inactivates thyroid hormone although I'm not sure if I've seen a genetic test for this although read about mutations. Some of us have also had TSH receptors and TRH receptors tested.

Having an impairment is not a receipe for disaster as it depends upon the supporting genes and pathways. I’m haven’t really found my results that useful apart from making me more mindful about my thyroid problems. However, if you're interested look at the Blue Horizon DNA thyroid genetic traits test.

bluehorizonbloodtests.co.uk...

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There are slightly differing forum views on Ords . Some say it is a form of Hashimotos but my understanding of it is when the thyroid gland atrophies caused by TBAb's which block TSH from stimulating the thyroid gland. TSH receptors are not just in the thyroid gland but located throughout the body.

It is thought common to have more than one type of auto-antibody (they are just never all tested for) and Hashi's TPOAb can mix with Ords TBAb. If Ords is the dominant auto-antibody, the thyroid gland with shrink in volume as opposed to inflaming (aka a goitre). However, you might still be diagnosed with Hashimotos as it is usually only TPOAb tested and the result of both conditions is the same, hypothyroidism through damage to the gland.

Ords is thought to be unusual but many members including myself went from having a goitre to gland shrinkage and eventual total gland atrophy. Ords will not show up in a blood test unless TBAb's are tested because it doesn't necessarily alter the amount of TSH in circulation, but just stops it being utilised correctly. However, TSH receptors play a role in up-regulating a thyroid enzyme (DIO2), so the blocking action risks reducing T4-T3 conversion resulting in lower FT3 levels.

[posthinking01 in reply to radd]

Thank you this is very helpful - I had antibodies of over 7,000 but told all fine and bloods normal - I was very very ill and no help because blood showed all ok !

[radd in reply to posthinking01]

posthinking

I assume you refer to TPOAb. I’ve never seen such a high level. I didn’t even know they could measure that high. Poor you!

TPO (thyroid peroxidase enzyme) is vital for the thyroid hormone production. The body’s immune system creates antibodies against it as lymphocytes infiltrate the thyroid gland after mistaking tissue for a foreign body.

If symptomatic, TPOAb generally demonstrates destruction of the thyroid follicles but interestingly a small percentage of those with TPOAb will remain symptom free and healthy. Back to genetics again, research says for those predisposed to developing metabolic, cardiovascular and/or psychiatric issues, the risk increases in the presence of elevated TPOAb.

For most people elevated TPOAb demonstrates chronic inflammation that sends out further inflammatory cytokines (chemical messengers), instigating further inflammation (and sometimes other autoimmune conditions), so I’m not surprised you felt so ill.

Datis Kharrizian says TPOAb can affect any part of the body including the brain where these antibodies adhere to neurological tissue. The inflammation that causes leaky gut where food proteins cross the intestinal lining can be replicated in the brain where antigens cross the blood-brain-barrier instigating a similar immune response. Hence we can end up with aches, pains and illness all over the body including brain fog.

Patients reporting symptoms aren’t taken seriously as medicine has yet to catch up with research. Even though auto-antibodies demonstrate damaging inflammation, because the cause remains unknown and there is no drug to cure, it is ignored until deficient thyroid hormones require replacing with Levothyroxine. In my mind this amounts to malpractice when hypothyroidism could be delayed or avoided altogether.

Hashimotos haunted me in varying degrees my whole life until diagnosed hypothyroid aged 49. Since then I have learnt the functional way of dealing with autoimmunity and am well, medicating thyroid hormone replacements meds. My son who previously tested high with TPOAb after exhibiting symptoms I recognised has reduced the level through life style changes and diet, and remains well and healthy many years later. My sister who has RA has also made these changes and been able to come off her RA meds for several years now.

[posthinking01 in reply to radd]

Thank you for your very informative reply - it never ceases to amaze me how much people on the outside of medical knowledge know - pity the rest of them don't keep up ! Yes it was horrendous - I had to go to Belgium to get help and was put on thyroid meds immediately - I went from 8.5 stones to 16 stones within a couple of months and was told I was overeating - ruined my career as I could not do my job so huge and with breathing issues etc. - needless to say I am still being told by an endo that my eyelashes falling out again are nothing to do with the thyroid - I had 100 symptoms of those shown on Thyroid UK symptoms list - how I survived I do not know only because I knew about nutrition and took what I could see my body was crying out for am I still here. They - endos - ruined my life though I have to say !