symptoms

Hi Sheryl,

really enjoyed reading your post, i have a lot of research to do as i don't fully understand HH just yet. I will be mentioning to my Dr the frequency of my venesection as i am concerned the treatment is not aggressive enough, the thing is if it wasn't for this forum i would have just gone along with it. My family have had some bad experiences with Dr's misdiognosing them so i know they are not always right, i had to see three different Doctors before i was finally referred to a haemotologist i just knew something wasn't right and they insisted i was perfectly healthy. Two Doctors suggested that i was suffering from PTSD from being in the Army due to my mood swings and fatigue, but i knew it wasn't that.

I'm on here everyday now checking for any advice or info i can get, it is all much appreciated.

Hi Mark, well done for persevering and not settling for something you knew was not the answer ie PTSD.

Presumably you don't have any liver damage or you may well have got to a HH diagnosis sooner.

If you do at all my feeling is you would be better with a hepatologist (liver specialist) - it's not so much a blood disorder as a organ (liver, pancreas, heart, endocrine) disorder, and as your liver is the main place iron gets deposited hepatologists are better placed to address the problems. I rather think haematologists will just have to refer on if you do have any end organ damage.

Anyway clearly you and your doctors now know what you are dealing with so hopefully no more false starts and do keep a close eye on your bloods and don't ignore any symptoms - it is easy to put it all down to HH and sometimes it is something else.

Hope all goes well

CF

Also Mark, (I am up at this late hour as I couldn't sleep - another manifestation of HH for me I am sure, don't know why - you feel exhausted all day and then you can't sleep, ironic) it is obviously early days for you in getting to grips with HH. Just while we are on the matter there are several abbreviations used for haemochromatosis -from HH (hereditary H...), to GH (genetic H...) to HC (haemochromatosis without the genetic / hereditary suffix) -its all the same but could confuse those delving into murky wafters for they first time. You could try the British Society for Haematology on the diagnosis and treatment of haemochromatosis; they seem to use HC as their abbreviation.

You don't say what your gene profile is - have a read around there's a fair bit on the web, and even on this web site, about genes that cause this. The genetics and inheritance do have an importance though can be a bit complex. The Haemochromatosis Society web resource in UK is informative and not too in depth. One thing that is often glossed over or not even mentioned but you will come across from time to time is that there are other types of haemochromatosis. Not wishing to make life complicated more than it currently is for you, but most HH, from type 1 (= classical, HFE related, what most people here are referring to when they abbreviate to HH) to type 3 are all autosomal recessive, i.e. you need to have received 2 defective genes from your parents. One's a juvenile onset form, and one associated with African Iron Overload. There is a fourth type, which is subdivided to form A or form B - but both are autosomal dominant, i.e. require only one gene from one parent for the disease to present clinically. While type 4 haemochromatosis is supposed to run a relatively benign course, i.e. HH type symptoms with relatively little organ damage, because iron is stored away in safe places where it causes less harm, but in the longer term can still over and start to cause harm in much the same way as classical HH. The other thing about type 4 is that it is quite a different gene defect to type 1, on a quite separate chromosome. The gene here is SLC40A1, which encodes for ferroportin, a protein that exports iron out of cells for use in making red blood cells / haemoglobin and myoglobin. It has come to be known as ferroportin disease. I had a little lecture, at some break neck speed inevitably, with my consultant about what my gene reason might be, and that together with a bit of reading around has broadened my insight into HH. Evidently ferroportin disease is deemed rare principally because although thought to be infact quite common as a genetic defect the penetration of the gene, which is referred to as 'penetrance' - how much of the clinical symptoms associated with the gene are expressed in the person carrying it - can very very variable from classical HH symptoms albeit with much less risk of hepatic iron overload to nothing much at all.

For a young man you need to know if you could pass, or have passed, this on to your children if you have any. Or if you don't, and do want children, you might have to have check that your fertility is ok. Your current fatigue may be hindering any consideration you have for your sex drive, but bear it in mind as things settled down for you. However if you still get waking/early morning erections and still maintain sexual desire and fantasies then you are fortunate that your HH hasn't affected your pituitary functioning (and shouldn't so long as you are able to lower your iron stores / ferritin). If you do have concerns there don't be embarrassed do go and see your GP - s/he'll do a blood test to check on your testosterone levels (needs to be done in morning they say pre-11am). If low they'll probably want to wait until you are in maintenance levels of ferritin before doing again, but if repeatedly low they may suggest testosterone replacement -which as one of the above respondents has said has done great things for him and his HH symptoms.

You say your doctor (is this GP or specialist?) has done lot so of tests for you - just wondering if s/he has done cerulospasmin level as this can raised ferritin - acerulosplasminaemia is really rare but was something my consultant wanted to rule out for me. Something that affects nerves as well so you get an early onset dementia as i recall. Look it up if is crosses any of your doctors radars, otherwise ignore!

its a curious disease as you can have homozygous C282Y and have little or mild symptoms or very bad symptoms. Heterozygotes for C282Y or H63D can be entirely symptoms free. There's another gene S65C but this doesn't really seem to cause major problems.

It really is important to have individualised care regarding this not just blanket one size fits all. Nonethelss there is little way of avoiding the ultimate of regular venesections!

There is a lot to take in Mark - take it steadily; if you don't know what something you've read or have been told means, please do bring it back to the collective wisdom here and we'll have bicker over what it means - one of us is bound to have some knowledge or a resource we can tap into to help you out.

Best wishes to all in the HH community

CF

Whoo, Clay, you must have a consultant with a VERY high level of interest in HH and its complications. Acerulosplasminaemia is a new one for me. My radar went haywire on that one because of its connection with dementia. It is difficult enough to find a dr whose radar includes HH let alone acer.......!

I have noticed that copper keeps popping up regarding iron metabolism too.

All the other types of Haemo are interesting, once one gets their head around ordinary HH, but mostly people struggle to deal with what they actually have. Very good advice regarding fertility. When I think of all the couples who have struggled with their fertility and sometimes the answer could have been in their Iron Studies which were not done or ignored.

Clay, I have to disagree with you regarding who is best to treat HH. I say, not just through personal experience but from others I have spoken to, Haemotologists, who can then refer you to a gastroenterologist if you have liver damage, a cardiologist if you have heart problems, endocrinologist if you have diabetes or other pituitary gland problems, and so on. A haemotologist is best to monitor your blood levels, and how often you need venesections, etc. although it does not seem to have worked that way for Mark. Generally, gps and nurses are not aggressive enough to monitor levels.

HH is not just about the liver, and sometimes, with some people the liver is not affected, but other organs can be - quite severely, and they are of no interest to a gastroenterologist.

Mark, after 9 years of non diagnosis but severe HH symptoms, the iron loading was going straight to my hips (had to have them both replaced) and my heart - chest pain, severe arrythmia. Over the years, I have been concerned about iron deposits in my heart - still get chest pains and arrythmia when my fe levels start to climb.

After finally finding a cardiologist who would confirm that iron does deposit in the heart, the best advice I got from him (or from anyone) is that even if they could see the iron deposits, there is no treatment for it - it cannot be cut out, drained out, etc. The only treatment is keeping up your venesections, and never letting one slip by.

That is why is so important for you to get that toxic iron out of your organs at an aggressive rate before you finally settle on a maintenence schedule of perhaps every 3 months. Even people who do not have HH can donate blood at least every 3 months, and it is all the more important for you to do so, to have a better degree of good health in your later life.

Clay,

Thank you for taking the time to write all of that information i will read a few times to try and take it in. I was guilty of not asking enough questions at my last appointment i will be prepared next time.

I have just looked at my referral letter and it says that my HFE gene showed the H63 D mutation and the S 65c mutation, does that mean anything to you??

Hi, my point really was if Mark was getting liver damage he should be seeing a hepatologist, while not really suggesting that no other professional has an interest in HH

It is likely a geographical matter, mostly HH is seen by gastroenterology in the UK, but do concede that both gastro and haemo issue guidance about HH in Europe

EASL Clinical Practice Guidelines for HFE Hemochromatosis (EASL=european association for the study of the liver)

British Society for Haematology : Haemochromatosis diagnosis and Treatment Guidelines

Take your pick; the gist is the same.

For me hepatology feels far safer, as haematologists here (UK) are focussing on folk with disorders of the blood and all the folk I see in venesection are under gastro. Horses for courses I guess, so long as someone is taking an over view and dealing with the matter in hand.

Hi Mark, I sent you a direct message - if you look in 'my messages' on the right when you have logged in

Hi Mark,

Just recently found this bit of information which might be helpful

"Individuals who are heterozygous for S65C or compound heterozygous H63D/S65C do not seem to be at a measurably increased risk for hereditary hemochromatosis"

While you might have to ask specifically when you next see a specialist, as probably your GP won't know, it does seems as if you are heterozygous for H63D / S65C, which would seem to be good news, given that you are not supposed to have an increased risk for HH.

I am presuming that they mean you are not at inc risk from the complications of HH, which has to be good. However doesn't perhaps mean you are immune to effects, viz a viz the fatigue, which it sounds like you have in spades!

The other piece of information I found was:

"Individuals who are heterozygous for H63D are unlikely to have symptoms of iron overload and are not at significantly increased risk of developing the disease" - again may fit with you?

And while perhaps not so pertinent to you, as they really must have done the C282Y test, it being the most common variant, and so presumably negative for you :

"Individuals who are compound heterozygous for C282Y and S65C may have a small risk for mild hemochromatosis. This rare variant displays a very low penetrance"

Hope that is useful for you Mark, and hope you are getting on ok, with venesection and such.

Regards

CF