Is HH the cause of my symptoms or something else.

Hi Steve,

I’m assuming that by “hereditary hemochromatosis” you mean Type 1 HFE hereditary hemochromatosis, either C282Y homozygous or C282Y+H63D compound heterozygous, and that by “iron count” you mean ferritin measured in ug/L (or ng/mL, which is the same as ug/L)?  I’m just wondering because recent guidelines give a target ferritin of 50 ug/L – assuming no inflammation (see next point). 

Because there are two reasons for ferritin to go up, one of which is excess iron, and the other of which is inflammation (which can be caused by autoimmune diseases, infections, and a bunch more), I am also assuming that your doctor has ruled out inflammation of any sort – for example, by checking your C-reactive protein level and finding it to be normal. 

If the above two assumptions are correct, then, in terms of determining whether or not your condition is permanent, you need to find out from your doctor if a) you have been tested for all treatable conditions that can explain some or all of your symptoms, and b) that all your treatable conditions have actually been treated. 

I have to say that I wonder about the hemochromatosis being the main cause of your symptoms, because your symptoms have been getting worse when your iron has not been going up.  That raises the question of what else could be causing your symptoms.

For example, things you might want to ask your doctor:

Testosterone deficiency:  has pituitary dysfunction been ruled out as a cause of your testosterone deficiency?  If your pituitary isn’t working properly, that can cause deficiency of other important hormones.  Because the pituitary controls the body’s supply of many hormones, when it doesn’t work properly, it can cause many different symptoms, including profound fatigue, depending on which hormones are affected – if you look up hypopituitarism on Wikipedia, you’ll get the idea.  Assuming your pituitary is working just fine, are you on the right amount of testosterone replacement?  Hint:  if your body hair and beard growth are still slowed right down, there’s a chance your testosterone level is still lower than it should be.

Vitamin B12 deficiency:  are you on enough B12 supplement so that your homocysteine and methylmalonic acid levels are normal?  Unfortunately, measuring B12 levels in blood can be a bit misleading because the B12 blood test counts both inactive B12 and active (methylated) B12.  Therefore, if you don’t methylate B12 very well, you can have a normal B12 blood test result even when you have low levels of active B12.  Active B12 is needed to metabolize homocysteine and methylmalonic acid (among all the other things that it does), so if homocysteine and methylmalonic acid are higher than normal, especially methylmalonic acid, then you know you don’t have enough active B12.  Your doctor might be interested in the recent review article by Dr. Ralph Green in the May 2017 Blood Journal (volume 129, number 19.) – google “Vitamin B12 deficiency from the perspective of a practicing hematologist pdf” and the bloodjournal link will give you the full text.  Hint:  if your balance is a bit off and you can’t feel vibration from a tuning fork (128 Hz) in your toe joints, that suggests your B12 level is too low and it’s affecting the nerves to your feet.

Vitamin D deficiency:  are you on enough vitamin D3 (cholecalciferol) so that you have healthy levels of vitamin D activity?  This can be checked by measuring the inactive form of vitamin D in the blood – 25(OH)D – or, and maybe better yet, by measuring vitamin D activity by checking blood calcium and parathyroid hormone levels.  Vitamin D has to be activated by the body, and there is considerable genetic variation (aka polymorphisms) in how efficiently different people’s bodies are able to do this.

Fatty liver disease:  has the cause of this been determined and fixable things fixed?  Things like high blood sugar, high triglycerides, and/or too much alcohol are fixable causes of fatty liver.  I’m assuming that your liver function is normal, that cirrhosis has been ruled out (elastography), and that you don’t have hepatitis C.

Sleep apnea:  have you got a CPAP machine that you can use all night and that works to prevent hypoxic (low oxygen) episodes while you are sleeping?

Chronic fatigue syndrome (aka myalgic encephalomyelitis aka systemic exertion intolerance disease):  it’s defined as a debilitating disorder characterized by extreme fatigue or tiredness that doesn’t go away with rest and can’t be explained by an underlying medical condition.  So other conditions that cause similar symptoms have to be ruled out before chronic fatigue syndrome can be diagnosed.  The Mayo Clinic has good handout on chronic fatigue syndrome that might be helpful. 

Alpha-1 antitrypsin deficiency:  non-smokers with alpha-1 antitrypsin deficiency can develop lung disease, although it happens sooner and gets worse faster in people exposed to smoke.  I’m assuming that your consultant checked your lung function and it’s normal, in which case something else must be causing your trouble breathing.

I can't tell from your note if walking slowly only in the house with walking sticks and “sometimes just breathing feels like hard work” is because of muscle weakness, or pain with moving, or something else?  I think it would be a really good idea to let your doctor know exactly what stops you from walking and from breathing easily because this information may provide clues as to something else going on that hasn’t been diagnosed yet.  You also want to let your doctor know about all the diseases that have been diagnosed in your family, because that may also provide clues.

I’m afraid that sorting out a complex situation like this takes a long time and I hope at least some of this will be helpful for you in talking with your doctor -

Hi Steve - well you have just received the best information from Gillian that you are ever likely to receive from anyone, obviously even from your dr.

I obtained a disability pension from the health issues I had that had all come on with the onset and 9 year late diagnosis of haemochromatosis (in Australia).  There is still doubt that all our symptoms are caused by haemochromatosis.  These disability pensions do not come easy at all, and yes you need tremendous support from your dr to get one.  I also tendered a letter describing my problems and why they made me unable to work.  If I even worked for a couple of hours plus travel, I would be stuffed for the rest of the day making living difficult and not be able to turn up the next day.  However, they do like you to at least do some voluntary work which I was doing - promoting the awareness of haemochromatosis for our Australian organisation.  I must add that I loved my job and it was with great disappointment and reluctance that I had to give up working.

The application forms barely allowed enough information to provide a full explanation of my health issues.  Hence my supporting letter.  My dr had to tick the box that my issues were going to last more than 2 years.  Every 2 years, I had to go through it again, until I reached aged pension age.

I was lucky to be interviewed by a woman whose cousin also had haemochromatosis, but that could have gone against me if that person barely suffered any symptoms at all and all was well with early diagnosis and treatment.

My advice is to focus on all your health issues that are preventing you from being able to work and not try to make it all about haemochromatosis.  You are more likely to get more support from your dr.  Even if they can't explain it and don't know how to treat it, or treatment is unsuccessful, it is still a health issue for you.

Even those some of those people diagnosed with CFS have spent a couple of years of their life in bed doing nothing else.  What financially supports them, as they are unable to work?

To address your symptoms:

BTW, I am homozygous C282Y, my husband is homozygous, and son is compound heterozygous C282Y/H63D.  Mine is most aggressive, my husband's is mild (was venesected down to <50 and then did not load any more iron - but he did get Hodgkin's Lymphoma which also put him out of work and I had to apply for a disability pension for him), and our son is in between and because of poor lifestyle now has diabetes.

I was finally diagnosed in 1998 after my hips broke up from osteo-necrosis (my blood was so thick with iron it could not get into the finer capillaries that fed the bone).  Of course I had to have my hips replaced and one of them was botched which has caused me constant pain and a bent back problems.

Fatigue - geez, I hate it.  I have very short days to do what I have to do.  When I pushed myself to keep working, I was staggering and slurring.  Even now, if I try to stay up past 7pm, I get flu symptoms which go shortly after heading to bed.

Yes - brain fog, memory problems and unable to focus and concentrate.  In winter 2002 I suddenly broke out in constant sweats of my face and head.  I was already using HRT so menopause symptoms were ruled out, thyroid ruled out, then they gave up on me.  After 6 years of this misery, a different dr sent me to an endocrinologist who diagnosed a pituitary gland tumour which was making my oestrogen inefficient.  Medication eased it like a miracle.  At the same time, I was found to have very rapid heart beat and I was put on beta blockers.  My brain immediately went seriously foggy, I could not say more than two words at a time as my words were lost by the time they reached my mouth and my brain was not talking to my bladder, so I was constantly wetting myself.  Beta blockers are designed to dilate the blood vessels and I think this allowed more iron to get into my brain.  It took 2 years for me to be able to speak sentences again.  In the meantime, I forgot how to find my drs office, and I suddenly could not read traffic lights, so I had to give up driving.

I too have a problem with suddenly being too cold or too hot.  Haemochromatosis affects the hypothalamus which controls our temperature controlling ability.

Dry eyes which are put down to menopause.

Often when walking through a shopping centre, I would suddenly feel like I was hit by a truck, and I would be yawning, yawning, like I needed more oxygen.  The truck hit problem often occurred when I was eating, and I have found that not eating sugars and starchy foods (potatoes, pasta, rice, bread, etc) has relieved it.

My husband became seriously depressed and he would have a bad reaction to anti-depressants for some years. Eventually his dr thought to test his B12.  It was seriously deficient and this causes neurological problems.  I was already giving him B12 in tablet form but he was unable to absorb it, so injections first weekly, now every 3 months changed his outlook on life considerably.

I can't absorb Vit D by tablets and was found to be deficient, so my dr put me on to a practitioners brand of D3 forte drops.  My D blood levels immediately went up.

We all mostly end up with fatty liver disease and this can be treated by eliminating sugars and starches as per above.  It is sugars and starches that cause the problem, not fatty foods, in fact we should consume more good oils instead.  People with HH have been found to not be able to digest sugars and starches very well, eventually leading to diabetes.

I sleep ok because I am so tired all the time.  However, I wake up often still tired despite that.

In the 9 years of non diagnosis, my dr put my symptoms down to CFS, and I said to her that CFS is not a diagnosis, it is a symptom of something else.

I hope this helps you.  Good luck.