I'm constantly amazed at the incompetence of medical practitioners. Your genetics and symptom complex - along with family affinity seem a pretty clear diagnosis for HH.
On the hemochromatosis dot org site (I hope this is okay with the moderator) there is a physician's worksheet and phlebotomy (venesection) guide that you can download and show to your doctor. The Iron Disorders Institute that sponsors that site is made up of medical professionals from a large number of fields and they are experts in iron metabolism and pathophysiological.
They state that if you are C282Y homozygote OR C282 / H63D compound heterozygote AND you have serum ferritin levels above 150 that you meet the clinical diagnosis for HH and should be phlebotomized to a ferritin level at or below 50. There's a period at the end of that sentence .
Even with the above, I had to keep getting referrals and keep communicating to get a hepatologist that would finally write orders for the T2* MRI. That provides conclusive proof or disproof of iron loading that no one can argue with.
Best fortunes as you continue to work to get your health.
Thanks for the reply. Having read all your posts I can see that you know tons about this! I feel that I have learned more about this illness in two days on this site than 8 years of doctors.
Can I ask a couple more things (you may have answered this in another post and I missed it....) ? Was your transferrin saturation normal or raised? I had a test 'iron studies' which included Se Iron, Se transferrin and TIBC but I don't think the transferrin saturation was on it - although I believe you can work it out from the other measurements. My gastroenterologist said that as these other numbers were fine the ferritin HAD to be related to something else.
At the time, I was just relieved, believing that I didn't have HH. Then I went to my GP and she brought up the letter from the gastro which had 'Diagnosis: haemochromotosis' at the top!
I also feel guilty I suppose because I am a bit overweight (although not obese) and in the past I went through a difficult time and began to drink a lot of wine. But for the past year I have only been drinking moderately, have lost weight and started doing yoga - and my ferritin keeps going up (albeit very slowly). But these are the reasons I haven't pushed the doctors, believing that it must be my own fault.
You have suffered many physical problems - do you believe that they are all related to HH? Also, do you think a low vitamin D level can be related to HH? I was diagnosed with low vit D and put on supplements which really surprised me because I have tanned skin (one of those people who doesn't really need sunscreen) and I would have thought I'd be the last person to get this! Mind you, living in the UK probably doesn't help
I'm sorry for all these questions! I'm worried because in 2003 my Dad died at the age of 66. He was one of those people who never went to the doctor. He had a stroke, went into hospital and they discovered he was riddled with cancer - liver, brain, lungs - everywhere! He died within a week. I remember one of the nurses saying to me 'does your dad have diabetes?' and I said 'no' and he said, that's strange because his blood sugar is high and his urine is full of sugar'. But now, looking back I think he must have had HH and never been diagnosed. We didn't discover the family link until 2007 when my brother got diagnosed - thankfully we both have the same GP who is excellent. My GP believes I have it, it's the consultants at the hospital who keep fobbing me off. My mum seems to be fine - she has had a ferritin check but not the genetic test - she is 77. The fact that all my siblings have two faulty genes (none of us are just carriers) makes me think my dad probably did have HH.
Anyway, apologies again for all the questions. I am sorry that it took so long for you to get a diagnosis and treatment. Reading all your posts really is an education to me (and I am a healthcare professional!) so thanks again for sharing your experiences.
My iron studies were all over the map once we began testing them (was just as of March this year that I got my first iron panel after I ordered up genetic testing on my own). A few times my transferrin saturation was over 45% - which is the magic number. Most of the time, it was 'normal'. I once tested as anemic - even fasting, though my ferritin was over 300.
These things just demonstrate that the blood serum markers are really just one set of indicators of stored body iron and that the symtptom complex, genetic testing, and imaging should be, in my opinion, more heavily weighted. I think it's probably true that the blood serum tests are fairly reliable as indicators for C282Y homozygote because they are the most studied cohort and often feature extremely high ferritin levels and transferrin saturation. But those of us that are compound heterozygotes, and this has some support in the literature, are more efficient storers and may have more interstitial organ iron than indicated by blood serum tests. This was certainly true in my case. My hepatologist is a rather famous HH physician and in his career he has only seen two others with more myocardial iron than me - and they were both homozygotes with ferritin levels over 25,000 and with cirrhosis.
Other than the arthralgia, I've been pretty healthy most of my life. I was a high school and college athlete. Stayed athletically active into my thirties when sports injuries sidelined me. I did gain some weight. And later began to present with strange lipid numbers. My triglycerides were over 900 for a couple of decades - even during periods of really good diet and exercise. That was always "my fault" too.
i think vitamin D levels are certainly related to iron metabolism. I've mentioned that I discovered in 2007 that my levels were low. Over time, I discovered that I needed to get it in several different forms to get my levels to move up. I ended up taking oral solids, glucose based solutions, and eventually got a UVB light bed. As I believe I've mentioned, I took 100,000 IU a day for years. I eventually got my levels to 120 ( which is high on the scale, but well within the Vitamin D Council's range) and no matter how much I took, they wouldn't go higher. This helped my arthralgia symptoms enormously. It may also explain why my arthralgia symptoms have almost completely disappeared since about the 4th phlebotomy, though I was told not to expect any improvement. After the events of last December, I had a huge arthritic flare and stayed inflamed until well into May of this year.
Vitamin D turns out not to be a vitamin anyway - it's a hormone / hormone precursor. Which is another story altogether.
For me, I think it's appropriate to view most of my health problems since December through the lens of HH. They are primarily new symptoms that I never experienced before in my life.
I'm not sure about other things - other than the arthralgia in the past. But I know that health care professionals guilted me into thinking that my arthralgia and lipid problems were my fault. At this point, I don't buy those ideas.
It's also possible for me to look back into my family - on both sides - and determine a number of people (including my mom) who were HH sufferers.
Also, I wanted to make clear, that once I got interested in iron, I got many iron panels from many different labs and written by different doctors. I did both fasting and non-fasting tests. I did them weekly for a couple of months. They produced wildly different results - even week to week. Which I think is another indicator of disease. Iron metabolism is so tightly regulated in the human body in normal people that there shouldn't be too much variation in tests in the short term.
Thanks again for the information. It feels like I am putting together a jigsaw!
I can remember when my GP told my brother that he thought he probably had HH (based on abnormal LFTs, raised ferritin and symptoms), I asked a colleague in work about it before the genetic tests came back - a senior registrar in gastroenterology no less!! - and he said, 'Oh it won't be that, he's probably just drinking too much!'. And my brother has never been a drinker in his life. In that case, my GP was more clued up than a supposed specialist in gastroenterology.
It's great to hear that your arthralgia symptoms have almost disappeared - that gives me hope! As I think I mentioned, it has started to affect my ability to ride a motorbike. I set off riding to London on Friday and had to stop and turn back after 50 miles due to the pain in my hands and wrists. I was going to visit my sister and my daughter and then go to Silverstone racetrack to watch the bike racing. So today I have settled for lying on the couch and watching the MotoGP on telly - I'm a big Valentino Rossi fan To be honest, rest doesn't really help - in fact, I get stiff if I sit for too long. I find the best thing is painkillers and keeping moving - but not too much moving! (if that makes sense??)
It is interesting that your pain got better when you treated the low Vitamin D. That happened to me too - I used to wake up in the night due to pain in my legs and hips. Sometimes I would take pain killers and go back to sleep but had to lie on my back as it was too painful to lie on my side. That pain has all but disappeared since I've been on the ProD3 (20,000units once a month). But I still wake up at about 7am with back and hip pain and struggle out of bed like a robot. I'm in a routine now where I take my painkillers and move around slowly to loosen up and then the pain is managable throughout the day. I sometimes need more painkillers later in the afternoon or the evening but some days I can do without and I prefer not to take them. My measure of pain is how bad a mood it puts me in!! If I start getting irritable or distracted by it I take the painkillers.
Anyway, enough about me. It is really great to be able to talk to other people about these things.
I'm looking forward to my GP appointment now as I have a plan. Thanks again.
I am a compound heterozygote (C282Y/H63D). I'm in my late 30's. I had a ferritin of 919 but normal TS% of 38%. My hemotologist sent me for phlebotomies and after 2 sessions my ferritin came down to 646. My symptoms are tachycardia (sustained episodes of 120-140 BPM) and palpitations, along with arthralgia in my spine. Everything in my body cracks (knuckles, elbow, knees, ankles, and especially my back and neck). I dont have any fatigue/lethargy. My hemotologist would not send me for the T2 MRI's (liver or heart) because he felt the treatment would be the same regardless of what was seen on those MRI's. I went to the my gastroenterologist and he wanted to do a liver biopsy but I convinced him to do a liver MRI. We did it after the first phlebotomy and there was no evidence of iron deposition in the liver. My gastro is not convinced I have iron storage in my body as my serum iron is normal and TS% is normal, along with normal liver enzymes. He believes there is another cause for my ferritin being high. However we then tested Hepatitis and Inflammation markers and they were all negative/normal. I then went to my cardiologist and he agreed to send me for a Cardiac MRI (T2 signal MRI). I have this test tomorrow morning. Based on this discussion, it seems that some compound heterozygotes store iron in their hearts more than in their livers so I am suspecting this may be the case for me given my tachycardia/palpitation symptoms and the lack of iron on my liver T2 MRI. I will update the group after getting my cardiac T2 MRI result. let me know if you have any recommendations
You are in the same position as me. I'm compound heterozygote with raised ferritin but normal iron, TSAT and LFTs but I do have the arthralgia (all joints) and occasional palpitations. I've also been fully investigated for other causes of raised ferritin - nothing found. My ferritin is 615
I was discharged from gastro as, like you, he doesn't feel I have iron overload. I've never had an MRI scan of liver or heart, not even an USS of liver. I've never had any venesections.
I'm thinking of paying privately for MRI heart.
Please do keep us informed about your results, I would be really interested to know.
The only other thing I've done to try and reduce my ferritin is improve my diet and cut out alcohol completely - I did used to enjoy a glass of wine or three
I'm going to ask them to check ferritin again in a few weeks to see if that has helped.
Have you had your vitamin D checked? I found that I had deficiency and taking high dose vit D has corrected it and some of my pains improved (but only slightly) Apoarently, vit D deficiency can be found in haemochromatosis patients.
I have had my vitamin D and generally it is low any time in my life it was checked. I was told low B12 is also related as well. I started taking B12 shots.
Question though, your ferritin is high. Why are you not treating this? Do not go to gastro for this purpose. Go to a hematologist. They will get you genetically tested and definitely send you for phlebotomies. I would not waste time to start this
I am negative for C282y and have one copy of H63D and was told that I was unlikely to develop HH. At that time my ferritin was circa 2700 to 3000. Two years later my ferritin was circa 5006 and my TS% was 30%. My liver function test were all normal and in fact every other test was normal.
I was eventually referred to a haemochromatosis specialist who sent my blood away to be genetically tested. This came back as showing a mutation in the FPN gene called SLC40A1. With this mutation you only need one copy from one parent to load iron and the condition is called Ferroportin disease or Haemochromatosis type 4. This condition always shows a low TS% saturation.
My liver function test was done again and was shown to be normal but my consultant decided that in view of my high ferritin a ferriscan should be done on liver and heart. My liver had overloaded with iron and the reading was 14mg/g dry weight. The normal level should be circa 2mg/g dry weight. I was just at the point where damage to the liver could have occured. My T2* on the heart was found to be normal, although I do get lots of palpitations that make me cough.
I was in my mid to late 40's when I was diagnosed and although my ferritin was high I did not feel any fatigue or lethargy. Some joints were painful and I experienced some brain fog sometimes.
Because Ferroportin disease does not respond well to phlebotomy, I was venesected fortnightly. After a while my hb dropped to 10.8 and I had to go every three weeks for a short while and then back to fortnightly. It has taken me three and a half years to get to maintenance where my target ferritin is 200.
It might be worth considering that you have a mutation in the FPN gene like myself.
Thanks for sharing your story. What a story that is! I will check for the other genes if my cardiac T2 MRI comes back with iron deposition and phlebotomy doesn't resolve the iron in the heart. Otherwise as long as my body is responding to phlebotomy and removes any iron deposition in my heart, I would treat this the same way regardless of which genes are affected. My liver MRI already showed no excess iron there so I feel I am covered.
Separately I am surprised they didn't use a combination of chelation and phlebotomies for you given how high your ferritin was and how long it took you to come down given the hemoglobin response. Great to hear you are now fine. Did they re-check your liver with MRI after your ferritin returned to normal?
Chelation comes with side affects and although I am a needle phobe, I would rather the phlebotomies than the drugs.
Yes, I had two further ferriscans during the three and a half years, one showed 8mg/g dry weight and the last one showed 4mg/g dry weight. We decided that there was probably no need for another as it was coming down nicley.
I have been told that the liver is the first place for iron deposition, then the heart etc., so I would be surprised if you have any iron deposited in your heart, but you never know.
I had the Cardiac MRI today and got the result as well. "Impression: No evidence of cardiac iron overload". I am very happy with this and the liver MRI result however this mystery continues for me. I had a Ferritin of 919 only 3 weeks ago but the two major organs that store iron don't have any iron in them. Where's all the iron then? In parallel to phlebotomy treatment, we looked for other causes of the ferritin being high such as inflammation or Hepatitis but thankfully those are also negative. I am stumped.
I'm coming up on my 4th weekly phlebotomy and I am already anemic. My ferritin came down to 646 after the first two phlebotomies so a ways to go.
I am going to get tested for ferroportin disease. Thanks Marie for this recommendation. I have a normal saturation % so it is possible that I have the classical form of ferroportin disease and maybe the iron is just circulating in my blood via ferritin and not being stored yet in organs. It does say with ferroportin disease that iron storage is in macrophages. I believe that macrophages are part of your red and white blood cells so maybe this correlates. I do have a abnormal large red blood cell size (MCV) so this has some possibility.
Hello John, you should ask your Doctor to check your ceruloplasmin .If it is absent you could have a disorder called aceruloplaminaemia-.high ferritin, low serum iron ,anaemia ,low or normal transferrin saturation-serum copper may also be low.
I overload iron and I am 'only' heterozgous for H63d variant of Hemochromotosis. I get therapeutic phlebotomies every 5 days and I had a much lower ferritin count than you. It still caused me to have elevated liver enzymes, bronze skin and type 2 diabetes and my joints are a mess. I had to have a hip replacement last year because of it. I would find a Hematologist who could wisely guide you. My primary care doc also did not believe I could have HH with only one gene. But, fact is, you can have an undiscovered gene as your second gene and you can be part of the 1% of single gene carriers who overload. It is too dangerous to go around with such high numbers as you!
I'm not sure what part of Ireland you live in, but it might be worth checking out Dr Niall Breslin's Haemochromatosis Clinic in Tallaght Hospital for a second opinion if you are still looking for a definitive diagnosis. I'm a patient of the Haemochromatosis clinic there, I'm Homozygous for the C282Y gene