New to the forum - Help with Genetic Testing Results

[Autumnisthebest]

Hello

Before I start, I wanted to thank these wo regularly post. It is very helpful.

My journey started over 5 years ago when I did bloods privately due to some concerning symptoms and they came back normal except elevated antibodies and I was re-assured that it's nothing (I should have done my research but I thought I could believe doctors at that point). I kind of managed to manage my symptoms, dieted constantly and worked out. All was relatively okay until...

January 2020 I find out I was pregnant and had a miscarriage end of Feb. I believe this is what triggered my further issues. I didn't get any follow-up care but this is where it all went downhill. I couldn't run, I was super puffy, retained loads of water and my brain wasn't functioning. I put on 40kg in 6 months and was told it was normal by my GP because of lockdown (I was as active as before and worked all the way through so it made no sense). I tried getting bloods done but my GP was not great help.

I got bloods done privately in spring 2021 and they were fine except antibodies which nobody cared about.

Thyroglobulin Antibodies

321 kIU/L (< 115 )

Thyroid Peroxidase Antibodies

49.5 kIU/L (< 34)

In September 2021 I changed GP practice and managed to get seen face to face and listened to. I cried because they finally listened! By this point I was already hypothyroid and they put my on 50 Levothyroxine which I have been on since. All blood tests have been all over the place but recently they are at the highest end of normal.

I had thyroid antibodies tested on NHS last year, still not sure how I managed to persuade them to do it but they were not helpful even when they came back positive.

139.27 iu/ml <5.61

My last week's bloods came back at:

TSH 3.04 mu/L 0.35 - 4.94

T4 12.3 pmol/L 9.0-19.0

I was told all is normal even though I don't feel good and keep putting weight on despite not eating as bad as they think I do, they said they won't increase my medication because everything is fine and my antibodies mean that in some point in future my thyroid will give up and require higher dose.

I saw people posting about genetic testing and decided to get it done but I don't understand the results at all and they seem to be contradicting...

Any help and or advice would be so so much appreciated and so sorry for this long post!

[Autumnisthebest]

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[Autumnisthebest in reply to Autumnisthebest]

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[Autumnisthebest in reply to Autumnisthebest]

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[SlowDragon Administrator]

My last week's bloods came back at:

TSH 3.04 mu/L 0.35 - 4.94

T4 12.3 pmol/L 9.0-19.0

Was test early morning and last dose Levo 24 hours before test

Free T4 (fT4) 12.3 pmol/L (9 - 19) 

Ft4 only 33.0% through range

TSH too high for someone on Levo

You need 25mcg dose increase to 75mcg (even if initially you only increase to 62.5mcg for first 6-8 weeks)

50mcg is only standard STARTER dose

Levo doesn’t top up failing thyroid…..it replaces it

Often something GP doesn’t understand

Most people when adequately treated on just Levo will have Ft4 (Levo) at least 60-70% through range

Request “trial” increase to 75mcg if GP is reluctant

What brand Levo is your 50mcg dose

ESSENTIAL to test vitamin D, folate, ferritin and B12

What vitamin supplements are you taking

You also need coeliac blood test if not already on strictly gluten free diet

[SlowDragon Administrator]

they said they won't increase my medication because everything is fine and my antibodies mean that in some point in future my thyroid will give up and require higher dose.

GP is clueless

Can you see different GP at the practice

approx how much do you weigh in kilo

Even if we frequently start on only 50mcg, most people need to increase levothyroxine dose slowly upwards in 25mcg steps (retesting 6-8 weeks after each increase) until eventually on, or somewhere near full replacement dose (typically 1.6mcg levothyroxine per kilo of your weight per day)

cks.nice.org.uk/topics/hypo...

bnf.nice.org.uk/drugs/levot...

nhs.uk/medicines/levothyrox...

Adults usually start with a dose between 50 micrograms and 100 micrograms taken once a day. This may be increased gradually over a few weeks to between 100 micrograms and 200 micrograms taken once a day.

Some people need a bit less than guidelines, some a bit more

TSH should be under 2 as an absolute maximum when on levothyroxine

gponline.com/endocrinology-...

Graph showing median TSH in healthy population is 1-1.5

web.archive.org/web/2004060...

Comprehensive list of references for needing LOW TSH on levothyroxine

healthunlocked.com/thyroidu....

onlinelibrary.wiley.com/doi...

If symptoms of hypothyroidism persist despite normalisation of TSH, the dose of levothyroxine can be titrated further to place the TSH in the lower part of the reference range or even slightly below (i.e., TSH: 0.1–2.0 mU/L), but avoiding TSH < 0.1 mU/L. Use of alternate day dosing of different levothyroxine strengths may be needed to achieve this (e.g., 100 mcg for 4 days; 125 mcg for 3 days weekly).

sciencedirect.com/science/a...

The optimal daily dose in overt hypothyroidism is 1·5–1·8 μg per kg of bodyweight, rounded to the nearest 25 μg.

If no GP at practice will increase dose …..see thyroid specialist

Here’s link for how to request Thyroid U.K.list of private Doctors emailed to you, but within the email a link to download list of recommended thyroid specialist endocrinologists

Ideally choose an endocrinologist to see privately initially and who also does NHS consultations so that might eventually transfer to NHS

thyroiduk.org/contact-us/ge...

[SlowDragon Administrator]

Genetic tests

Did this include testing Dio2 or Dio1

Yellow means mildly affected

Red means more likely affected

GP won’t be interested or understand these tests

More important at moment

Get dose increase in Levo

Get vitamin levels tested and improve to GOOD levels

Get coeliac blood test before trialing GF diet

[Autumnisthebest in reply to SlowDragon]

Thank you. This is super helpful.I have my medication review due in couple of weeks so will go in prepared.

Teva brand Levo and has been the same brand consistently for last 6 months finally.

I currently weigh 135kg, I have asked them to increase the dose based on weight alone but didn't help.

Tests were done first thing in the morning, it wasn't quite 24 hours but approx 20.

coeliac test was done and was negative and I was on GF and dairy for a year but didn't make a difference unfortunately.

I have dropped the rest of genetic test results in my comments. Only one red.

Mid October blood tests, only recommendation was vitamin D in low dose which I take.

Active B12 Active B12 concentration >70 pmol/L - Vitamin B12 deficiency unlikely

Active Vitamin B12 113 pmol/L [> 24.0]

Serum folate level

Serum folate level 5.2 ug/L [3.1 - 20.5]

25-OH Vitamin D Quoted reference range is for optimal vitamin D status.

Vitamin D 30-50 nmol/L = INADEQUATE - Treatment may be required in

symptomatic or high risk patients.

I take Myo inositol with folate and Chromium alongside vitamin D currently.

Thank you again!

[SlowDragon Administrator in reply to Autumnisthebest]

I currently weigh 135kg, I have asked them to increase the dose based on weight alone but didn't help.

Request 25mcg trial increase in dose

print out all the NHS guidelines I gave you ready to present if necessary

If they still won’t increase request/politely insist on referral to endo.

Though NHS referral taking over a year so in reality you would need to go privately

Vast majority of endocrinologists are diabetic specialists and often useless so pick who you see carefully

Couldn’t see actual vitamin D result

How much vitamin D are you taking

No Ferritin result ?

Folate is low

Rather than just taking folate…….supplementing a good quality daily vitamin B complex, one with folate in (not folic acid)

This can help keep all B vitamins in balance and will help maintain B12 levels too

Difference between folate and folic acid

healthline.com/nutrition/fo...

B vitamins best taken after breakfast

Igennus B complex popular option. Nice small tablets. Most people only find they need one per day. But a few people find it’s not high enough dose and may need separate methyl folate couple times a week

Post discussing different B complex

healthunlocked.com/thyroidu...

Thorne Basic B recommended vitamin B complex that contains folate, but they are large capsules. (You can tip powder out if can’t swallow capsule) Thorne can be difficult to find at reasonable price, should be around £20-£25. iherb.com often have in stock. Or try ebay

IMPORTANT......If you are taking vitamin B complex, or any supplements containing biotin, remember to stop these 5-7 days before ALL BLOOD TESTS , as biotin can falsely affect test results

endo.confex.com/endo/2016en...

endocrinenews.endocrine.org...

In week before blood test, when you stop vitamin B complex, you might want to consider taking a separate folate supplement (eg Jarrow methyl folate 400mcg) and continue separate B12

Post discussing how biotin can affect test results

healthunlocked.com/thyroidu...

helvella.blogspot.com/p/hel...

[Dawney63]

Sorry I can't help you on your tests, I wanted to say you're not alone. Your story matches mine so much.

[BenLabrador]

Your report seems too vague. You may be well served by getting a more specific DI02 test done with a report that clearly addresses any mutation and its consequences.

I did the test for DI02 through Regenerus but now they don’t do it and Blue Horizon is suggested as a provider. Anyway Regenerus acted as an agent for a German laboratory. The report I received was clear that I have a mutation and that it can lead to poor conversion of T4 to T3. This has helped me in my discussions with my GP as well as my understanding of my condition.

[Hedgeree]

Hi Autumnisthebest,

Welcome to the forum ☺️

SlowDragon's given you lots of useful info in her replies; hopefully others with knowledge of genetic tests will comment too.

As you're already aware the forum has many members with much experience and knowledge; you've come to a good place.

[DippyDame]

You should find this helpful!

paulrobinsonthyroid.com/dio...

The BH in trying to simplify an analysis just made it more complicated I felt!

Paul does a better job!

[Lottyplum]

some GP comments re ‘normal’ make me want to spit!! I suppose I say that as many years ago I too had a miscarriage, which I believe was directly related to my ‘normal’ thyroid levels (yeh right!) and which resulted (following my private consultation) with removal of my thyroid gland due to goitre (that would result in my being breathless) and Hashimotos! Whatever you do, do not lie down under any dross from inadequately trained GPs where your endocrine system is concerned , get your education here and if/when necessary get yourself a private Endo if you wish to get pregnant again. Following my thyroid removal and getting my thyroid levels sorted, I went through a normal pregnancy and delivered a healthy little girl! I have learned so much here and forever thankful.