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Newly diagnosed with HH

Posted , 6 users are following.

ruth51315
ruth51315

I recently found out that I am homozygous H63D.  I have been hypothyroid for many years so it seems that my pituitary is affected, was recently found to be type 2 diabetic so my pancreas seems to be affected too,  I am having to have a nuclear heart scan for possible damage to my heart and I am told that the fibrosis on my liver is so severe it is probably cirrhotic.  I am being refused venesection because my ferritin levels are never above 277 ( I am a 60 year old female)  and my saturation percantages are usually about 48%.  Everything I have read says that if ferritin levels are about 1000 then organ damage becomes more likely.  I seem to have organ damage at much much lower levels.  Has anyone come across this before.  The liver consultant is saying that the fibrosis/cirrhosis has nothing to do with possible iron overload and has dismissed all my other symptoms.  I feel that by being refused venesection, as every day passes, I could be getting increasingly poisoned by toxic levels of iron in my blood and that if they would treat me, the damage to my liver might decrease/improve.

2 likes, 31 replies

31 Replies

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  • jwrhn1951
    jwrhn1951 ruth51315

    Posted

    My Ferritin was around 2000 with a saturation of about 45 although it does spike into the 70's.  I'm also homozygous H63D and they kept telling me there must be something else going on because H63D's are not supposed to load iron. Took a liver biopsy showing NASH and 3+ iron deposition and a brain MRI showing microvascular disease with iron depsition and ultrasounds of the joints showing psuedogout  arthritic deposits and a EKG showing atrial tachycardia. 

    All of that in someone who therotically should not have overload.

    Most MD'd know very little about the C282Y variant of HH and next to nothing about H63D HH. You need to find a MD who will do venesections as soon as possible, maybe only 100 or 125 ml's at a time given your agina. I would be very very hesitant to try IDE or any chleating agent without medical supervision.

    In my case I started feeling better as soon as they started the blood draw. Good luck

     

    • mary92507
      mary92507 jwrhn1951

      Posted

      Hi

      Thank you so much for speaking out. So little is known about this thing we all have in common. Without your input we are at the mercy of so called professionals!! Thank you

    • ruth51315
      ruth51315 jwrhn1951

      Posted

      Hi Jwrhn,

      Thankyou for replying.  Yeah, is seems pretty clear that the medics I have come across know less about HH than I do.  The liver doc has offered me a biopsy.  For loads of reasons I'm not keen.  I am going to ask if I can have a Ferriscan ....I know I won't get this on the NHS, but at least it will prove one way or another, if I AM loading iron.  And if I am, then I can prove that despite having relatively low ferririn, I AM in need of treatment.  And that, exceptions to the general rule DO occur.

      I am due to have an EKG on June 10th.  I have had 3 ECGs but all of them were fine.  Hopefully the EKG will show something because I have been having palpitations and fluttery heartbeats for years.(Though low T3 connected to my hypothyroidism can also cause this so it may not be related.)

      Thankgoodness your docs were prepared to be more proactive in finding out all your problems, than mine seem to be.

      Good to hear that you finally got answers and that you are doing better .  Thankyou for the good luck wishes. Think I'm gonna need 'em!

      Take care,

      Ruth

       

    • ruth51315
      ruth51315 mary92507

      Posted

      Hi Mary,

      Bless you.  

      It does so help to know that I am not alone.

      If only the so called professionals were not so b***y arrogant and actually listened to their patients instead of treating us like ignorant automatons! Grrrrrr!!!

      Take care,

      Ruth

  • mike80628
    mike80628 ruth51315

    Posted

    Hi all. Just sat in waiting room waiting for my venesection! Been a year of weekly treatment at the mo...just wanted to say hi and thinking of you all....hugs all round. Mike.😃
    • ruth51315
      ruth51315 mike80628

      Posted

      Hi Mike,

      May your blood flow freely and the needle not hurt.  Not far to go now.

      Hugs too,

      Ruth

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