Should I be having treatment?

[Entwicklung]

Hi there.

{40y/o , male, family man, previous half marathon runner, currently very unwell]

Been suffering symptoms (eg Fatigue, exercise intolerance, body aches and pains, terrible brain fog, sleep disturbance abdominal pains, etc) for a long time and had a multitude of blood tests and investigations, 99% of which come back normal.

The main noteworthy things on my file are raised ferretin (last checked 700), some borderline liver markers, more recently a low/borderline cortisol number (within range) and heterozygous for c282y.

Some figures:

Ferretin (trending upwards):

Jan24 - 610

May24 - 624

Oct24 - 701

Iron:

Jan24 - 19.7

May24 - 26.7

Oct24 - 20.4

Serum transferrin:

Jan24 - 2.07

May24 - 1.92

Oct24 - 2.28

Se unsat binding capacity:

Jan24 - 52

May24 - 48

Oct24 - 57

Transferrin % saturation (16-50)

Jan24 - 38%

May24 - 56%

Oct24 - 36%

Albumin (35 - 50)

Jan24 - 44

May24 - 43

Oct24 - 48

Total protein (60 - 80)

Jan24 - 72

May24 - 68

Oct24 - 75

Alkaline phosphate (30 - 130)

Jan24 - 72

May24 - 70

Oct24 - 84

Serum bilirumen (below 21)

Jan24 - 7

Oct24 - 10

Serum ALT (0-41)

Jan24 - 37

Oct24 - 38

Plasma gamma GT (below 60)

Jan24 - 40

Oct24 - 36

So my question really is, after many specialists and investigations not finding a problem/diagnosis, could hemochromatosis be the cause of my health issues? Should treatment/investigation have been instigated based on May24's figures there?

The GP has obviously stated as I only have one copy of the HFE gene confirmed from the NHS tests I shouldn't have issues with hemochromatosis. I believe this is the general rule, but considering I've had many in depth investigations in other areas and am having major health problems, is it possible that a long term (years) high ferretin is the actual cause rather than knock on effect and is it worth asking for treatment (i.e phlebotomy)?

Any help, opinions, advice offered will be greatly received.

Many thanks in advance.

[Entwicklung]

More blood results in case they're of any use...

From FBC:

Total white cell count (4.0-11.0)

Jan24: 6.9

Oct24: 9.4

Red blood cells count (4.4-6.0)

Jan24: 5.26

Oct24: 5.74

Haemocrit (0.37-0.51)

Jan24: 0.47

Oct24: 0.50

Haemoglobin estimation (140-180)

Jan24: 163

Oct24: 170

[judetheobscure22]

HiYour ferritin is high but your TSATs are normal. Usually TSATs are above 45% in someone who is loading. Ferritin can be raised for many reasons so it is hard to say whether the heterozygous haemochromatosis is the cause.

In your situation, if you're not being given venesections I'd donate blood and see if that gave any improvement.

However, I'd warn that in my situation (homozygous, higher TSAT, similar ferritin, no symptoms), giving blood actually gave me symptoms and affected my sport for 6 weeks plus.

Everyone is different though- that's the one thing I've learnt about this condition!

[Entwicklung in reply to judetheobscure22]

Hey thanks for the input and info. I've heard phlebotomy / venesection can be difficult for some people. I need to try giving blood I think; I've resisted thinking I need a definitive answer to my root cause of issues before attacking it.

In may my TSAT was 56%, but from what I read that figure will fluctuate for everyone.

I'm meeting with a nurse from Hemochromatosis UK to get some information which should be helpful.

I'll update if I get anywhere with it all.

[judetheobscure22]

The nurse at Haemochromatosis UK was very helpful for me.

[isi123]

Hello, your doctor should first, as a protocol, rule out any other liver diseases. Now, at this point, I have known cases of C282Y heterozygotes with many health complications due to hemochromatosis. With doctors, it's a constant discussion; I always ask them the opposite: if heterozygotes can't develop the disease or only develop very mild forms, why do homozygotes sometimes not develop it either? Your liver profile, which is the most important, seems to be quite good, so it seems that, if you have hemochromatosis, you have not yet crossed the barrier of liver damage. However, this disease, especially in men, is very dangerous if not treated in time, so insist on having the most reliable diagnosis possible. You can undergo liver iron quantification.

[Entwicklung in reply to isi123]

Thanks so much for this, I needed a push in the right direction here. The liver investigations need to happen, it's just trying to get the go to organise it and how long it will take.

A great point about asking it the other way around too!

[isi123 in reply to Entwicklung]

In genetic diseases there is no truth that is 100% true.