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Compound heterozygote

Posted , 4 users are following.

BikerBlue
BikerBlue

Hi there,

I am new to this group and was wondering if anyone else has experience with being a compound heterozygote (C282Y/H63D) and not getting anywhere with doctors!

My brother was diagnosed with HH in 2007 (C282Y/C282Y) so the whole family got tested. One sister is the same as him, and me and my other sister are compound heterozygotes. At that time my ferritin was normal and I was just advised to have it checked annually. Over the past few years it has been steadily rising and is now 671.

I have a long history of arthritis (knee, neck, hips) but lately my joint pains are getting worse and affecting my hands (mainly big thumb joints and wrists but also small joints in all fingers). My back and hips are stiff every morning and I have to get up early so that I can take my painkillers and gradually get moving before going to work. I am 51 and post-menopausal (on HRT).

I am so fed up because it is affecting me riding my motorbike (which I love) due to pain and cramps in hands.

The problem is I have seen a gastroenterologist and he said it is unlikely to be due to HH as the rest of my iron studies were normal. He advised me to lose weight (my BMI is 28) and discharged me. He said compound heterozygotes very rarely overload with iron. He also advised me to see a rheumatologist which I did and he said it is not Rheumatoid arthritis.

So now I am thinking I just have to live with this and rely on painkillers. I have started doing yoga which helps a bit I think.

I am seeing me GP next week and I am going to ask if I can have a transferrin saturation test (I'm not sure if they have done that yet).

Only other abnormalities in blood tests were mildly raised GGT and vitamin D insufficiency (I've been on high dose vitamin D for months and that has not helped the pain).

Sorry for the long rambling post........

Any advice appreciated

Thanks smile

2 likes, 8 replies

8 Replies

  • sheryl37154
    sheryl37154 BikerBlue

    Posted

    Ask to be referred to a haemotologist and get full Iron Panels via your gp.  If the haemotologist wait is too long, start donating at your Blood Bank, although they may not like your painkillers.  Check their website.

    I find that Vit D3 Forte drops work better than tablets.

    My son is C282Y/H83D and had a ferritin iron level of 772 at age 22, after I was diagnosed with C282Y/C282Y.  His father is H63D/H63D and had a ferriting iron level of 557.  We were all at normal healthy weights.  We all had venesections.  My husband no longer loads iron, but my son still does, and do I, of course.

    You should have not been allowed to go to 671.  You need to get your level back to <30 then level out to your optimal level.  mine is 34.

    but i would be interested in seeing your iron panel results when you get them and ask for copies of all your tests results.

    i had to have both hips replaced at a young age because of undiagnosed hh.

      then="" level="" out="" to="" your="" optimal="" level.=""  mine="" is="" 34.="" but="" i="" would="" be="" interested="" in="" seeing="" your="" iron="" panel="" results="" when="" you="" get="" them="" and="" ask="" for="" copies="" of="" all="" your="" tests="" results.="" i="" had="" to="" have="" both="" hips="" replaced="" at="" a="" young="" age="" because="" of="" undiagnosed="" hh.="">

    but i would be interested in seeing your iron panel results when you get them and ask for copies of all your tests results.

    i had to have both hips replaced at a young age because of undiagnosed hh.

     >

  • sheryl37154
    sheryl37154 BikerBlue

    Posted

    If your problem is fatty liver, the best cure for that is to eliminate all sugars and starches from your diet.  Have some protein with every meal and snack.  A protein breakfast instead of cereals, of course.  No more potatoes of any kind, bread, rice, pasta and of course, heck, cakes and things.  No softdrinks, fruit juices.  Have a piece of protein (normal size) and lots of greens and cauliflower.  No hard beans and lentils, they are full of starch.

    If you like cooking there are lots of tricks to do with cauliflower to make you think you are eating mashed potato, pizza crusts, etc.  Because I missed that sensuous feel of pasta and rice, there is Slimpasta made from kojak root.  No protein, no carbs - just fibre.

    I do have one slice of Bergin Soy and Linseed bread with my egg in the morning, cause fried egg needs it, plus some turkey, avacado and tomato.  I can eat boiled eggs and scrambled eggs without toast.  Eventually your stomach shrinks and I found when I added yoghurt to breakfast, I had to halve my egg on toast and have the other half for lunch.

    Have some cheese or yoghurt after dinner to help reduce the uptake of iron.  This is when you take your calcium tabs as well.  Otherwise tea/coffee/milk with meals to do the same job. When you are deironed a small glass of red wine with dinner to help reduce the uptake of iron too (medicinal).  No Vit C with meals.  I take mine last thing at night to help reduce the chance of sore throats and colds.

    You will discover you have a waist again.  If your ferritin iron levels reduce on this diet, that is a sign that your fatty liver is reducing (and caused the high ferritin in the first place).  So you will be a triple winner.

    Unfortunately, a research dr who deals with arthritis has confirmed that arthritis caused by HH does not go away with venesections.  But it may stop it from progessing further.

     

    • BikerBlue
      BikerBlue sheryl37154

      Posted

      Hi Sheryl

      Thank you for all that advice! Very useful smile

      I think I am coming to terms with the fact that these joint pains won't go away any time soon so the best thing to do is to try and stop them getting any worse and yes, to lose weight (groan) and cut out alcohol (also a groan).

      I am thinking positively after joining this group. I might as well turn the negative into a positive and do the Dryathlon for September to raise money for cancer. I'm not a big drinker but I do like a glass of wine so it won't be too bad but may help if fatty liver is the cause of the raised ferritin.

      Thank you again, I really do feel better just from being part of this discussion group and I am learning so much more about the condition.

      Best wishes smile

    • sunni13905
      sunni13905 BikerBlue

      Posted

      Hi,

      You won't find any better group to be a part of. I've been going back and forth to the dr since December and waiting on results and getting tested again because they missplaced the first results then being told "we're going to wait to do the testing".  It's a never ending cycle.  The people on here are more informative when it comes to symptoms and advice than any doctor because they are living with it day after day.  I don't know why there seems to be such reluctance on doctor's parts when it comes to getting testing  for HH. 

      Glad you are thinking positive and not letting it get the best of you

      Sunni

  • haircrazydaisy
    haircrazydaisy BikerBlue

    Posted

    Hi, I'm sorry that my reply to your post is so late!  I have the same mutation as you - compound heterozygote and my brother is C282Y/C282Y.  I'd be really interested to know how you're getting on?

    My symptoms are very similar to yours.  I've now had three venesections and am feeling much better.  My ferritin is down to 40 so I probably only need 3 monthly venesections.

    Be really careful with painkillers - I have just read something on another site saying that people with HH should avoid ibuprofen and paracetomol.  I'm allergic to anything with codeine so I'm pretty scuppered!

    Hope things have improved for you.

    • BikerBlue
      BikerBlue haircrazydaisy

      Posted

      Hi there,

      Thanks for your message.

      I have had some mixed news to report. I was discharged from gastro because they have put my raised ferritin down to 'another cause' rather than haemochromatosis because my transferrin saturation was normal.

      I have changed my diet and cut out alcohol almost completely and my ferritin has come down a bit but it is still high (almost 500). The highest my ferritin has ever been is 671.

      I did have a fibroscan of the liver which was normal.

      I was referred to Dr Kiely in St George's Hospital London for my joint problems and he is an expert in haemochromatosis rheumatology. He is a lovely man and the first doctor to take a real interest in my story. He feels that the arthritis that people get with haemochromatosis may not be related to ferritin levels - because most people's joint symptoms do not improve (or only improve marginally) after venesection. So it can be the case that these genes cause arthritis separately from the iron overload - he is doing research into this.

      So basically, I am trying to reduce my ferritin levels myself and will continue to have yearly iron studies to keep an eye on my TSAT. If that begins to rise my GP will re-refer me to gastro. My joint problems I will have to address with exercise and pain killers. I'm trying not to take too many though smile

      I'm glad you are feeling better now that your ferritin is down. Part of me wishes they had at least tried the venesection on me smile

      Thanks again for your interest - I'll try and keep posting if I have any more info that may be useful to people on this site

       

    • haircrazydaisy
      haircrazydaisy BikerBlue

      Posted

      Hi,

      Well, every area seems to use different markers for HH.  My consultant went by the ferritin level and yours is really high - he said they like it to be 50 and no higher, for our gene combination.

      Great that you're seeing a consultant that you trust in.  I'm surprised that they didn't go down the venesection route but if you're feeling better, maybe that's the right thing for your particular case.

      Take care and yes, do let us know how you get on :-) 

    • sheryl37154
      sheryl37154 BikerBlue

      Posted

      Yes, research (and experience) has already found that venesections do not relieve the joint pain from HH, unfortunately.  Once the damage is done, it is done.  So far really, only the liver can recover if it has not gone too far.

      You can always go and donate blood every 3 months, if other health issues and medication do not make you ineligible.

      Try a 100mg aspirin a day to help relieve inflammation.

      A transferrin saturation % >45 for women is the important marker for classic haemochromatosis.  Look for studies done by Prof Pierre Brissot on this.

      Good luck.

       

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