I could do with some guidance in interpreting these results if anyone has the appropriate experience or knowledge.
33 year old male, 179 cm, 100kg.
Undertook a 16 week exercise program (5 days a week resistance & HIIT) from March 2017 while monitoring calorific intake to 2100 kcal a day (Benedict & Harris Equation for age/gender/mass). No weight loss occurred (although fat visibly decreased as muscle mass increased).
Following weeks (no exercise), significant weight gain. Started to suspect low basal metabolic rate. Had resting metabolic rate tested - 1450 kcal per day (around 2/3rds of literature values).
Currently undergoing extreme fatigue and lethargy. Hospitalised briefly twice in the last 9 months with juddering (Head) and an abnormal gait (walking strangely).
Decided to test Thyroid function. Results are as follows:
I agree with your Thyroid assessment. While this could arguably be subclinical hypothyroidism I don't think there's enough there to explain the severity of the symptoms encountered recently. Regardless of diagnosis, I may used Naturally Desiccated Thyroid to try and top up my T4 and bring my TSH down to around 1.0 to see if I feel any different. If I rely on a GP diagnosis I might have to post from the grave...
I had considered pernicious anaemia but had partially discounted it due to the RMR results. I'll be seeing the GP in the morning to flag it up. Completely expecting to be fobbed off and anticipating paying for the tests myself!
Results from chromosomal sequencing came back this week; hereditary haemochromatosis. Ferritin 500 ng/ml transferritin saturation 51%. Hopefully caught it early but as im heavily sympomatic, i doubt it. Liver, heart, thyroid and pituitary function to be assessed in the coming months.
You have my best wishes that it has been caught early enough that any damage to your organs etc. is minimised.
tbh, I'm at a loss to know of anything that could be a useful comment. Most of the people that I know who have been diagnosed with this are substantially older than you - including a GP who was in his 60s before he was confirmed in this diagnosis altho' it belatedly made sense of decades of a huge range of symptoms for him.
You need very careful guidance from a dietitian and other specialists in order not to disrupt your vitamin and mineral levels while you are undergoing venesection to bring down your levels.
Do these people have any relevant guidance for you?
Thank you for your kind words and interest. Yes, I was aware of the organisation you linked to. There seems to be a good level of support there.
There does seem to be genuine surprise that I've presented this early. An uncle of mine was diagnosed 3 years ago with a ferritin just over 300 at 40 years of age, whereas I started to develop symptoms (possibly unrelated for now) at 29.
What I find frightening is that after many years of investigations (and thousands of pounds), no one thought to do a full iron panel. I will never blindly trust professional medicine without advocacy ever again.
I don't understand why iron panels are run in such an incomplete fashion, it makes no sense to me at all.
I can't bear to think of how much money is wasted over many years, testing the wrong things. Or, how people's quality of life is compromised by being told that nothing is clinically awry when there is.
Just because haemochromatosis has a strong Celtic connection - and it's not unknown for people with that heritage to have fair skin and sun exposure issues - I have to ask, do you know what your vitamin D level is?
ETA: I'm also going to second the need for a B12 level etc. You could benefit from a rule out for a number of deficiencies and it would also be useful to have baselines in advance of the venesection series.
To be honest, I can't remember the value exactly, but it was in 'normal' range.
I was born and raised in England, but all of my grandparents are from Ireland, predominantly on the west coast.
I think there was a greater responsibility of the family to make everyone aware of the potential for this condition.
To make matters worse, my own father is a GP who never passed on the info regarding my uncle as he didnt think it relevant. He said in a viva, no one would correlate neuro symoyoms with haemochromatosis.
Sadly, through personal experience I'd rather you hadn't had to live through, you now know better than your father on this topic.
Here's the thing. 'Adequate' vitamin D in the UK is a range from 50-200nmol/L *but* - and this is a significant *but* - once you have a disorder like haemochromatosis, because it is systemic, you need more optimal hormone levels elsewhere and, as you know, vitamin D is a pro-hormone.
You need to know your level - and for various reasons, rheumatology departments like your level to be somewhere round 60-80nmol/L before they start some treatments in order to be confident that barely adequate vitamin D levels aren't confounding any treatment results. I'm mentioning rheumatology as they often discover FH as part of examining the arthritis or musculoskeletal complaints that can be part of the clinical picture.
As there is that Celtic connection, I very respectfully suggest that your vitamins and minerals need careful monitoring. And, tediously, you need to keep a watchful eye out for any possible indications of Coeliac's Disease etc. as it's too easy for this to be confused with the gastric symptoms that are sometimes parcel of FH.
I will be proactive in monitoring my vitamins moving forwards. I've been advised to find a multivitamin without Vitamin C to compensate for vitamin depletion without increasing iron absorbtion.
Please do not just pick up any multivitamin - they too often have versions of the vitamins and minerals that are not particularly bioavailable and are full of fillers that can have an adverse impact on their absorption. Nor do they necessarily have the balance of supplemented vitamins etc. that you need.
Can you persuade your GP or haematologist to refer to you a registered dietitian with a specialist interest?
There is dietician at my hospital but from prior experience with my son (protein intolerance up to 2 years old), she was as much use as a chocolate fire-gard.
I think i'd rather find someone privately who's independent.
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Thyroid check results
help with test results had them done and they show normal but my mum and nan have thyroid i have same symtoms why is my results normal
Thyroid Check Ultra results from myMedichecks
Medichecks thyroid testd
