oscillating between denial and serious concern

[gabkad]

This is not my thyroid but the person who generated all this is my endocrinologist so that's as good an excuse as any to post it on the thyroid forum. Perhaps it may be a 'bless her heart' situation. Maybe I'll owe her big time.

For the past three years she's been 'bothering' me with the question: have you ever been tested for haemochromatosis? I tell her my haemoglobin has always been high, no problem. She gave me a lab requisition for transferrin saturation.

Yeah well, okay..... I just went through all the lab results I have since 1996. Haemoglobin has generally been in the 140s then 150s up to 162 the past few years. When I gave birth in 1984 it was 144 at the end of the pregnancy for heaven's sake. That's very odd and I was tested daily while in hospital. They didn't tell me why though, just kept poking holes into my arm. Ferritin was not checked all the time but since 1999 it's gone from 26 to 33 to 141 in 2010 to (can't remember the exact number but it's a bit over the legal limit) over 220 three years ago....... Don't have any idea what it is now and I CAN'T BELIEVE THIS!

Liver enzymes are normal and I do not have diabetes. Also no cardiopulmonary disease.

It takes a lot to scare me. A doctor would have to confront me before I take notice. Making suggestions or asking questions doesn't cut it. Stuff like that is totally off my radar. I've got some sort of mental 'thing' that I am made of iron... oh oh maybe I am.

At the moment, the little brushes that a person has to use to rub the inside of the cheeks are drying in their envelope in the kitchen cupboard.

I decided, that's it, I want definitive answers here and not be fooling around with transferrin or anything else. I want the DNA evidence.

It surprises me that the Healthunlocked forum for Haemochromatosis is so sparsely populated considering the popularity of this genetic mutation in the UK and Ireland.

So I'm here because I'm here. This is where I started with all the thyroid business. But you know, we are all supposed to be helping out around here and maybe some people who report that they have high ferritin etc. should be advised to investigate Haemochromatosis even though it seems most posters who do get ferritin checked are low.

At first I was thinking, oh you silly fool, you ate too much liver. But not only have I not been eating liver for at least 3 years now, I went for months not eating any meat at all until I was dreaming of hamburgers (real big juicy ones. Not McDonald's). Even then, when I eventually figured out that it was end of March and I had not eaten any meat since before Christmas, I had a rib eye steak and that did me for the next few months.

But alas, the haemoglobin does not descend to polite levels. Oh no. And everyone always asks me 'have you been on holiday?' when I may as well have been living like a mole. Last summer while gardening I got a bit of a sunburn on my lower arms. What happened is I have these patchy areas left that look like permanent burn marks. That has never happened before and I've been sunburned umpteen times in my long and storied life.

Yes, I have arthritis but not in my hands. Apparently that's common in HH (let's give it an initial instead of writing out the whole entire long word.) Plus I don't have abdominal pain or headaches ( I give them). My muscles ache. I always think 'you are so out of shape' but it's not that. They just hurt. It's sickening already.

I spent the week-end reading up on everything I could find because that's the nature of this beast. I even read every single entry on the 'tell us about yourself' part of the Australian HH Forum. It was extraordinarily interesting biggie time. Makes me wonder about all these aches and pains. Maybe it wasn't the lower thyroxine dose why my hair fell out? Today I have energy but I go for days and weeks feeling lethargic and apathetic. It takes a lot to pretend otherwise but it's necessary. Perhaps this is not the thyroid business as my endo keeps telling me (and you know how it is, we just fluff it off as being condescending nonsense. At least no one has offered me anti-depressants!)

Yesterday I had a lunch meeting with my Aussie investment dude. As soon as he sat down I asked him 'Do you have haemochromatosis?' 'Yes.' he replied. 'I'm a carrier. My aunt died of it and my mother has to have blood removed once a month. My two sisters have it as well.' We had a long chat. He's had genetic testing done as have all his family members. He's Australian.... straight up no b.s. and neither am I so asking a question like that from seemingly out of the blue isn't as weird as it may seem on the surface of it. Apparently nobody in the family knew anything except 10 years ago when his aunt died and autopsy results showed iron overload. The 'all points bulletin' went out to all family members all over the world to get tested. This is very common in his extended family.

Except I'm not British or Irish. I'm not even Scandinavian. It would appear that somewhere in the mists of the distant past my investment guy and I may have had an ancestor in common. May.

Maybe I'm jumping the gun.

After I finish posting this, I'm taking my DNA samples to the post office and sending them off. 2 to 4 weeks from now I'll find out if I'm a mutant or if I've just got something worse than that going on.

At least until now there's been no organ damage. And IF she's right, my endocrinologist will have saved my life.

Thanks for reading. I appreciate it.

[Rapunzel]

gabkad another conundrum for you, what a bummer

My iron's always high with Blue Horizon 187/182/183/184 ug/L 20.00 - 150.00 , near the top of the range with Medichecks 141.5 ug/L 13.00 - 150.00 . Never investigated it...given your reading up over the weekend, can I leap on your coat tails and ask...should I? I do eat red meat but never liver 🤢 is it that serious ? TBH I'm at the point where I feel that I'm going to die anyway...my hypo's made me sooo weary this is just another thing to throw money at - right or wrong?

[gabkad in reply to Rapunzel]

I'm sure the NHS covers the DNA test as the Ministry of Health over here also does. I just chose to go private because I don't know how long it would be for my endo to order the government covered test. I want it over with asap.

Haemochromatosis is very popular over in the UK and Ireland, Faeroe Islands, Jersey, Iceland, etc. etc.

I think you should get checked out for sure. The problems that this condition can cause are truly horrendous. What's your haemoglobin like? This condition is not always accompanied by a high haemoglobin. It depends on how well you process folate and B12. I guess I don't have that weird MTHFR gene.

To be honest, I just can't wrap my brain around it all that this may be something I've inherited. Just plain old cannot.

Peeing on a pregnancy test stick was bad enough when the positive line appeared. That was worthy of a faint. I'll ensure I'm lying down in my hammock when I open the email from the genetic test lab. That's for sure!

It's those bloody Saxons! I know it! It's them. I know for a fact that even though I'm of Hungarian background, my ancestors were Saxons.

[gabkad in reply to Rapunzel]

Here's a really good cut and paste:

Initial symptoms are often nonspecific and include lethargy, arthralgia, change in skin color, loss of libido, and features of diabetes mellitus. Hepatomegaly, increased pigmentation, spider angiomas, splenomegaly, arthropathy, ascites, cardiac arrhythmias, congestive heart failure, loss of body hair, testicular atrophy, and jaundice are prominent in advanced disease.

The liver is usually the first organ to be affected, and hepatomegaly is present in more than 95% of symptomatic patients. Hepatic enlargement may exist in the absence of symptoms or of abnormal liver-function tests. Manifestations of portal hypertension and esophageal varices occur less commonly than in cirrhosis from other causes. Hepatocellular carcinoma develops in about 30% of patients with cirrhosis, and it is the most common cause of death in treated patients—hence the importance of early diagnosis and therapy. The incidence increases with age, it is more common in men, and it occurs almost exclusively in cirrhotic patients.

Excessive skin pigmentation is present in patients with advanced disease. The characteristic metallic or slate-gray hue is sometimes referred to as bronzing and results from increased melanin and iron in the dermis. Pigmentation usually is diffuse and generalized, but it may be more pronounced on the face, neck, extensor aspects of the lower forearms, dorsa of the hands, lower legs, and genital regions, as well as in scars.

Diabetes mellitus occurs in about 65% of patients with advanced disease and is more likely to develop in those with a family history of diabetes, suggesting that direct damage to the pancreatic islets by iron deposition occurs in combination with other risk factors. The management is similar to that of other forms of diabetes, although insulin resistance is more common in association with hemochromatosis. Late complications are the same as seen in other causes of diabetes mellitus.

Arthropathy develops in 25–50% of symptomatic patients. It usually occurs after age 50 but may occur as a first manifestation or long after therapy. The joints of the hands, especially the second and third metacarpophalangeal joints, are usually the first joints involved, a feature that helps to distinguish the chondrocalcinosis associated with hemochromatosis from the idiopathic form (Chap. 395). A progressive polyarthritis involving wrists, hips, ankles, and knees may also ensue. Acute brief attacks of synovitis may be associated with deposition of calcium pyrophosphate (chondrocalcinosis or pseudogout), mainly in the knees. Radiologic manifestations include cystic changes of the subchondral bones, loss of articular cartilage with narrowing of the joint space, diffuse demineralization, hypertrophic bone proliferation, and calcification of the synovium. The arthropathy tends to progress despite removal of iron by phlebotomy. Although the relation of these abnormalities to iron metabolism is not known, the fact that similar changes occur in other forms of iron overload suggests that iron is directly involved.

Cardiac involvement is the presenting manifestation in about 15% of symptomatic patients. The most common manifestation is congestive heart failure, which occurs in about 10% of young adults with the disease, especially those with juvenile hemochromatosis. Symptoms of congestive heart failure may develop suddenly, with rapid progression to death if untreated. The heart is diffusely enlarged; this may be misdiagnosed as idiopathic cardiomyopathy if other overt manifestations are absent. Cardiac arrhythmias include premature supraventricular beats, paroxysmal tachyarrhythmias, atrial flutter, atrial fibrillation, and varying degrees of atrioventricular block.

Hypogonadism occurs in both sexes and may antedate other clinical features. Manifestations include loss of libido, impotence, amenorrhea, testicular atrophy, gynecomastia, and sparse body hair. These changes are primarily the result of decreased production of gonadotropins due to impairment of hypothalamic-pituitary function by iron deposition. Adrenal insufficiency, hypothyroidism, and hypoparathyroidism are rare manifestations.

HAHA! At least I can't have testicular atrophy!

[Rapunzel in reply to gabkad]

Thanks for that, I appreciate it. Was always proud of my big swinging gonads...sigh

[Hillwoman]

Sorry to hear you've another potential problem taking up brain space. Just when you think you're back on track with one thing...

[gabkad in reply to Hillwoman]

It might be something else. Regardless, donating all those surplus iron atoms is the route I'm taking. I'm curious to find out what effect it has on the blood test results. It is so unfortunate that in Canada, even though I'm post menopausal they don't let me donate as frequently as they allow men. I've probably got the best kickass supercharged blood in town!

They removed 480 ml of blood. 5 tubes for testing and one donation 'bag'. It didn't take long at all but I made sure I was well hydrated. Supposedly that amounted to around 250 mg of iron.

Thing is to de-iron the body it takes a long time. Admittedly some of the people on the HH forum started with ferritin levels over 2,000! Even 3,000! One person had to have phlebotomies done every two weeks for a year and only then did his level go down sufficiently to reduce to once a month. If ferritin levels are so high, people can't donate blood. They have to just get it done and the stuff gets thrown out. It's only when ferritin levels start to come close to top of range that they can donate. I think that's partly because initially the every 2 week phlebotomies are very tiring.

People start to feel better once their levels come down to normal. Most are aiming for ferritin levels around 30 to 70. 30 is fine because it's really temporary when a person manages to bounce the ferritin back up by 120 points in a couple of weeks. It's THAT bad. The iron is gradually coming out of the tissues where it should not be.

This is going to be interesting. I'll go to the family doctor a week after the next donation and get all the iron blood tests done.

[Hillwoman in reply to gabkad]

480 ml of blood removed = roughly one pint, i.e. about one eighth of an average person's total circulation. I can understand why the de-ironing (de-ferriting?) process will take so long. When I think about it, the implications are quite mind boggling.

This is very interesting stuff, and the opposite problem to the one we usually see around here. It is serious though, so I wish you luck for the iron panel results.

[gabkad in reply to Hillwoman]

They (the Aussies) call it de-ironing because it's not just about the ferritin which is used as a tool to determine how the iron levels are going down. After a phlebotomy, ferritin can go down measurably but two weeks later it will pop right back up again. (alarming or what?) That's not from what a person is eating. It's iron moving from where it has been stored. It's about gradually moving stored iron out of places it shouldn't be into the circulation and out of the body.

The liver can store 20 grams of iron.......... and then iron gets stored in the pancreas, kidneys, heart, muscles, BRAIN..... so who knows when someone's ferritin is 3,000, how many grams are there to shift out of the body? Scary stuff.

I was reading the NHS site last night. It says something about liver biopsy but this is no longer done here or in Australia for diagnostic purposes. Too invasive.

In fact, which is beginning to look a lot like NHS, a Canadian doctor had an article published in which he claims that it is not worth it to do DNA testing because regardless whether iron overload is from HH or something else, the treatment is the same. Phlebotomy. Anything to save money...... What if someone needs to know what they may be passing on to their children?

There are other inherited conditions that cause iron overload besides HH.

After spending the entire week-end glued to the screen until I swear my distance vision was getting fuzzy, I learned that, Ideally, haemoglobin levels should be good which means folate and B12 levels need to be excellent, and ferritin should be about 70. Iron is so toxic to the body, that even ferritin over 100 is a bad bad thing.

[Hillwoman in reply to gabkad]

They're saving money at the slightest excuse...No need to test antibodies either, because they're totally irrelevant. 🙄

I've read (I think on Malcolm Kendrick's blog) that post menopause, women should not normally supplement iron, because at around 7 mg per day it can cause damage to DNA. We don't tend to think of iron in those terms. I don't supplement it, because I eat plenty of meat, also liver quite often. OH's ferritin is way over 200. He has a lot of Celtic ancestry on his mother's side and I've Scandinavian and Jewish on my maternal line. We're both about to do iron panels through private testing, and it occurs to me that maybe more of us should be suspicious of HH if we start seeing the kind of problems in middle age that you describe.

Keep reading, but don't get square eyes.

[Kell-E]

I don't know much about HH, but I think my mom carries the Thalassemia trait. Ignorant doc was recommending iron supplementation for low MCV.

I did thoroughly enjoy you post. Your sense of humor has not been compromised by any potential disorder, lol. Yes, and no atrophied testicles for you!

[blogsy2 in reply to Kell-E]

Well at least it is treatable. If you are feeling anxious whilst waiting for the results of your dna test, why not give blood? You’ll be blessing someone who needs blood and reducing your ferritin level.

[gabkad in reply to blogsy2]

I already did that on February 8th. Next appointment with the vampire is on May 7th.

Being proactive.

[blogsy2 in reply to gabkad]

Well done! Your iron-rich blood will surely help the recipients feel better anyway.

[gabkad]

reallyfedup123 you'd have to be more specific. I've read his stuff years ago but don't recall anything about iron overload.

Apparently it is not possible to get iron overload from eating high iron foods or taking supplements. Hm. That raised me old eyebrows. What there is of them.

[gabkad]

I think in cases where it's a genetic problem, it doesn't matter what a person does. Everything seems to have some iron in it.

Yesterday I read that the Lyme Disease bacterium is unique in that unlike all other bacteria, it needs manganese instead of iron. Interesting the rabbit holes a person goes down while reading up on all sorts of 'stuff'.