New member (UK)

[Kshanksie]

Hi all. New to forum (uk) 👍

Early stages of diagnosis and so far all blood work comes back normal except Ferritin @ 800 & GFR >60

GP is pretty laid back and I ask what I think are relevant questions.

It’s easy to google worst case scenarios but I am concerned that my HFE gene mutation test result has not been recieved in 20 days.

Could anybody let me know what time scale this test normally takes.

Any advice as to what I should or could do if HFE is positive or negative would be really appreciated.

Happy festive holidays to all. 😎

[Porphyriamaniac]

Hi Kshanksie, welcome to the forum 🙂. My HFE test took four weeks to come back. If it's positive, don't panic, the Dr will refer you to start venesection, which must be kept on top of. If its negative, dont panic, ask for referral to haemotologist to investigate further as to why you're loading iron, could be some inflammation somewhere. Take heart that your liver bloods are good. Have you any symptoms? What took you to the doctor?

Stacie. X

[Kshanksie in reply to Porphyriamaniac]

Hi. I’m 62 and pretty healthy (!?). I’ve had 26 surgeries over the years for mainly arthritic conditions.

As I’m on regular painkillers I’m pretty much pain free most of the time. When they wear off I am aware of a nagging dull ache in the rear of right lung area. Also abdominal pains and feel queasy all the time.

Never smoked, don’t drink alcohol or mess around with recreational narcotics.

At 18st it feels like the trend to blame type 2 diabetes as a reason for all ailments. ( never been diagnosed with that but H1ac came back just short of upper limit)

I’m pretty resilient to discomfort and not being a ‘sickly’ person it is a bit of a shock when facing a disease of some sort. The google is a godsend and although I want to bury my head in the sand I really need to get a diagnosis and at least halt or reverse any condition discovered.

The wait for test results is frustrating especially when treatment or referral is being delayed. Patience is a virtue.

I’m now aware that iron overload can aggravate arthritis and discussed this with an orthopaedic surgeon last week. He was pretty much dismissive (defensive?) so I’ll just go with the flow. Being told last week to enjoy Xmas forget about the tests and results and ‘pop back’ in the new year isn’t really helping the Xmas spirit.

I’m not complaining it’s just as a builder of 45 years I’m used to fixing things first time and quickly. Need to chill.

Thanks for listening.

Kev. 🌲😃

[Porphyriamaniac in reply to Kshanksie]

Hello again Kev, I know what you mean about waiting, it's the worst bit but once you get a diagnosis everything moves quicker. The orthopaedic surgeon was probably dismissive as he was out of his depth 😁 I've even had the more junior haematologists dismiss me and it's down to the fact they know very little of my condition so can't give me answers, same with the GP's! They'll know the basics but only a haemo or hepatologist really knows their stuff on HH. But yes, arthritic joint pain can be a symptom of it, the extra iron can deposit in your joints. If your test comes back positive, it honestly is manageable with the venesections. I spoke to a lot of knowledgeable people about it on the haemochromatosis forum over on patient.info, some of them seem to know more than the Drs as they've been diagnosed 20+ years and it helped, might be worth a look? (I tried to post a link but phones playing up! 😏). Please let us know how you get on, all the best. Stacie. X

[Kshanksie in reply to Porphyriamaniac]

Hi Stacie. Thanks for your post. I’m gonna stay chilled for the next 7 days and then bang (gently) on a few doors to get things moving. Worst fear is hearing that if you had come sooner the outcome would have been so much better. No idea how long I’ve had these levels but it’s time to get it sorted.

Enjoy envy time off between now and new year. All the best. Kev. 🌲🎅😝

[Porphyriamaniac in reply to Kshanksie]

Well the docs say ferritin levels over 1000 is when you may start to get damage, some are at 3000+ when diagnosed and it usually rises gradually over years, so yours should be fine once brought into check. The GFR, I can't really comment on as I know next to nothing on that. All the best to you. Xxxx

[Kshanksie in reply to Porphyriamaniac]

Hi. Got my HFE gene test result today ( 27th Dec ) and came back negative.

Not sure if thats a good thing or not. My understanding is that my ferritin levels ( >800 ) , saturation index = 29% and & GFR calculated at >60,

indicates multiple possibilities. Chronic kidney/liver/pancreatic disease,

Obesity, Type-2 diabetes, inflammation or infection.

If only i had the chance to pick any one of those, I suppose being obese already, I would prefer type 2.

I can be a bit flippant about most things in life and it is never my intention to upset anybody who has any type of condition. Give me a slap if i do.

That said, it is really good to share with other members our experiences.

Hope your Xmas was good and all the best for 2019

Kev

[Porphyriamaniac in reply to Kshanksie]

Oh dear kev, I'm sorry you've no proper answers as yet ☹. It's good it was negative though I suppose, they had to rule HH and a few other things out with me too before I got a diagnosis. As i said I've only got experience of the ferritin issues as I've been through all that, the GFR is alien to me though. I hope they get to the bottom of it soon and it's not serious, wishing you luck and best wishes for 2019, Stacie. Xxxx

[Hidden]

Hi Kev,

I can't comment on your results, as I just ask my husband's doctor what they mean when they are above or below the normal levels and what if anything should we do about them. I do think the GFR levels are related to the kidneys, which may be affected by liver disease [hubby was in the hospital in Nov. 2015 for liver and kidney failure. Doing pretty well now].

It's good that Stacie could give you an answer regarding how long it takes to get results from your test.

I also have no knowledge of HFE, so no help here.

Just wanted to let you know I read your post and wish you Happy Holidays,

Mary

[Kshanksie in reply to Hidden]

Hi Mary. Thanks for your reply and glad hubbies doing well. I would Just be happy to get a diagnosis or all clear either way.

Really good to speak to others about their own experiences.

Have a great holiday and new year.

Kev