Lurking pandemic - Hemochromatosis.

The Dr00g · 07-06-2005 1:42pm #1

If you are being treated for any of the following, you maybe have been misdiagnosed and in fact be a victim of the above-named underlying condition that can be the cause of many illnesses:

# Non-specific symptoms - the initial symptoms are insidious and vague
# Skin colour changes
# Bronze skin
# Joint pain - the most common complaint
# Fatigue
# Lack of energy
# Chronic fatigue
# Abdominal pain
# Loss of sex drive
# Heart problems - Heart flutters.
# Diabetes
# Liver disease
# Liver symptoms
# Jaundice

The list actually goes on. There was a time when victims of this condition were often labelled "hypochondriac", and not long after such diagnosis they would die due to failure of one of the major organs.

This condition is a hereditary genetic mutation, and it is most common in peoples of northern European descent, but in particular those with Irish roots.

In a nutshell, the body of a person with hemochromatosis cannot stop absorbing dietary iron. The blood then gradually becomes overloaded with iron (ferritin), and then deposits of ferritin start to build up all over the body. This is what causes the damage. Often the liver is the first organ to suffer. Most commonly the symptoms start to appear after the age of 30 or so. But symptoms can appear sooner, or later. Each case is quite unique (I believe that is due to various other metabolic conditions). Victims who are not properly diagnosed and treated often die around the age of 50.

Diagnosis is simple; A few blood tests to check for signs of the condition, and then a genetic test to confirm diagnosis if any signs are found.

Treatment is also very simple; Initially, 500ml of Blood is taken off the body (known as phlebotomy or venesection) either weekly or fortnightly to gradually deplete the ferritin level in the bloodstream to a level *below* normal range (12-150 for women and 12-300 for men, where hemochromototics can have levels as high as 4000 or more). When that is achieved the ferritin deposits in the organs will start to mobilise so as to increase the blood levels again. But phlebotomy is continued so as to keep the ferritin level low and the deposits moving. Thus the threat to health is dramatically decreased. At this stage the frequency of phlebotomy is decreased to a "maintenance" interval of about once every few months. Again, each case is unique in this respect. Samples of blood are tested each time to determine when the next phlebotomy should be.

It is a known fact that there are many people throughout the world who have inherited this genetic mutation and may be at risk of becoming hemochromototic. This should be of particular concern to people of Irish descent.

Find out more here - http://www.haemochromatosis-ir.com/ and also google for it (two spellings - "haemochromatosis" and "hemochromatosis").

I was diagnosed earlier this year after I had gone to my GP for a simple blood sugar and cholesterol test (out of curiosity mostly). The test included one for liver enzymes, which turned out to be elevated. This led to some more tests, and eventually a confirmed diagnosis of hemochromatosis. My treatment is going well, but as yet the extent of organ damage is unknown. More tests will be done over time.

I hope this post helps someone out there to get on the right path. Even if they're at a stage where serious damage has been done, they might start the process of information that could save a sibling or other family member, including of course their own children, from this dangerous condition.

gandalf · 07-06-2005 6:28pm

Moved to Biology/Medicine

dudara · 07-06-2005 6:31pm

Interesting.. I've never heard of such a condition before.

Can iron blood tests reveal anything about elevated iron levels, or do they merely confirm that the iron iron is above a certain level ?

(I'm thinking of those suspension tests that the Blood bank use, or are there more sophisticated tests?)

The Dr00g · 07-06-2005 8:11pm

Indeed, the tests are quite a bit more complex than just a simple reading of the ferritin level, as this can sometimes be elevated for other reasons. The following excerpt is from 'The Iron Disorders Institute Guide to Hemochromatosis':

"Diagnosis of iron overload begins with an elevated transferrin iron saturation percentage greater than 55 percent. Normal range for transferrin iron saturation percentage is 25-35 percent. Transferrin iron saturation percentage is a calculation derived from serum iron values divided by total iron binding capacity (TIBC) multiplied by 100.

An elevated transferrin iron saturation percentage greater than 55 percent should be followed by a second fasting saturation percentage and a serum ferritin. [it goes on to comment on proper fasting]

Fasting transferrin iron saturation percentage and serum ferritin both will be elevated if excessive tissue iron is present."

Even if all such indicators are giving a positive reading for hemochromatosis, the only way to be 100% sure it's not some other iron disorder is to take the genetic test.

One thing bothers me about how this condition is currently handled in Ireland; they don't use the blood for anything. In other countries it is used. There is zero risk of "catching" hemochromatosis from a hemochromatotics blood. It simply is not possible. I just think it's an awful waste of perfectly usable blood, which is needed more than ever these days.

DadaKopf · 08-06-2005 11:01am

Yes. I know someone who died from an infection which spread because haemochromatosis suppressed his immune system.

This disease is inheritable and, if caught early, can be controlled.

Get yourself tested.

The Dr00g · 08-06-2005 9:15pm

Just found out this morning, an uncle (my fathers brother) who died last year had it. Granted he was in his late 60's, but he had health problems for a long time. And a cousin, also on my father's side has it.

I'm continuing to inform extended family members and encouraging them to get tested.

Pet · 08-06-2005 10:28pm

Where do you get tested, and how much does it cost?

The Dr00g · 09-06-2005 10:58am

Your GP will organise that for you.

It's covered by medical card (which I have thankfully) and VHI etc. But as far as I know the initial blood tests are quite inexpensive. Way less than €100 I would imagine. In my research on the net I have seen American sites quote less than $100 for the initial tests.

The genetic test might cost a bit more. Ask your GP.

DrIndy · 11-06-2005 1:13am

Haemachromatosis is the most common genetic disease in ireland and many, many people have it. Once diagnosed and treatment is initiated, outcomes are truly excellent. If you have a family history, you should be tested, but remember that the genetic tests are very expensive to perform and are only advised if there is a strong likelyhood you may have inherited it.

Frankie Smith · 17-06-2005 12:50am

Is there any reason why it's particularly common in Ireland?

dudara · 17-06-2005 12:41pm

I saw a letter concerning this in the Irish Times today. It's good to raise the profile of this condition

DrIndy · 17-06-2005 1:26pm

Frankie Smith wrote:

Is there any reason why it's particularly common in Ireland?

Its a genetic disease and it is more common in celtic people, just like cystic fibrosis, red hair and freckles. Some genetic diseases confer protection from other diseases and this is a common reason why genetic diseases which are damaging actually can be quite common.

If you have two cystic fibrosis genes, you get cystic fibrosis with all the problems it entails, but if you have one gene - you have no symptoms but are resistant/immune to cholera which attacks that receptor. It is also supposed that you are more resistant to TB as well.

If you have sickle cell anaemia (this is where the haemoglobin (oxygen carrying molecule) in blood cells is different and "sickles" when cold or deoxygenated. People with this get dangerous and sudden blood clots that can kill) - you have the disease, but one gene is a healthy person who is now immune to malaria. Sickle cell disease is common in africans and indians where malaria is common.

As far as I know, having haemachromatosis doesn't protect you from any other infection - but just happens to be common amongst celtic people.

The Dr00g · 23-07-2005 12:03pm

Frankie Smith wrote:

Is there any reason why it's particularly common in Ireland?

I read a theory that the mutated gene/s could have been caused by a dangerously low iron diet in some of the northern European peoples that the Irish predominantly descend from.

tribulus · 23-07-2005 6:04pm

low iron diet??? surely even eating relatively small amounts of red meat would provide you with enough iron - what were the diets of these people

DrIndy · 23-07-2005 6:53pm

Interesting - would make sense if iron were transferred much faster.

Tribulus - most irish people were peasants and were lucky to get enough spuds tbh.

Its interesting, we're doing a workup on one of our patients right now for haemachromatosis.

The Dr00g · 24-07-2005 2:09am

Yes I'm sure there were many dark times in the past when various food sources could have completely dried up. I believe it is thought that this mutation occured several thousand years ago.

If I should happen to find any detailed theories I will post them.

DrIndy - A workup?

The Dr00g · 24-07-2005 2:15am

By the way, I'm booked in for a liver biopsy on the 8th of August. It took me months of mulling it over to agree to have this procedure. Now I'm having second thoughts again.

When I went for my phlebotomy last Tuesday the doc on duty told me that according to my most recent blood tests my liver function had "improved a lot" since the first liver tests earlier in the year.

I'm thinking, if things are improving so much and maybe even heading back to completely normal, why stick a needle in the damn thing?!

What do you think DrIndy?

DrIndy · 24-07-2005 6:34pm

Work up is we have someone with a liver disorder we cannot easily categorise, not hepatitis B or C, not alcohol, no obvious cause - so we're doing the screen for haemachromatosis to be sure since it so common.

Liver biopsies are for definitive diagnosis and also assessment of structural damage. It gives a lot more information than tests and is very useful because of that. Its a quick procedure too.....

Blood tests only tell if any liver enzymes are elevated which shows active disease. If there is any cirrhotic change, then only a biopsy will show this up.

The Dr00g · 25-07-2005 12:21am

Ok thanks for that info.

I guess I should really go ahead with it. Better to know the level of damage and whether or not anything else is going on in there that might be treated effectively as a consequence.

Common it is. Just think though... The more hemochromatotics that are diagnosed, the greater the demand for clinics that can perform phlebotomies. And imagine all those units of useful blood that will be continue to be wasted (unless that silly policy changes). But ultimately, consider the overall reduction of burden on the health services due to the avoidance of more serious secondary illnesses, by identifying and treating more hemochromatotics earlier. Food for thought...

Wibbs · 25-07-2005 11:58am

Wow, never heard of this before Dr00g. Thanks for the info.

Could reduction of iron in the diet help with this condition? Is there any other way to reduce the levels of iron in the blood without recourse to taking blood?

I was just wondering is this disease less obvious in women as their monthly menses would expel quite a bit of iron? Off the top of my head I was thinking could undiagnosed haemachromatosis might go some way to explain unexplained heart disease in people otherwise free of other symptoms/causes. I remember reading that men who gave blood regularly had a much lower incidence of heart attack than men who didn't. Maybe some had this illness but the blood donations were a unwitting treatment? Could this be one reason why too much red meat in the diet seems to elevate risk in heart disease? That it's the iron not the fat that may be as big a cause of the problem.

DrIndy wrote:

Its a genetic disease and it is more common in celtic people, just like cystic fibrosis, red hair and freckles. Some genetic diseases confer protection from other diseases and this is a common reason why genetic diseases which are damaging actually can be quite common.

I seem to remember that Ireland has one of the highest incidences of genetic diseases in the world. Along with the above, coeliac disease and spinabifida are very high here too. Is this correct and if so are there any reasons for this?

There's a theory floating about that red hair and freckles may have been inherited from neandertals. That explains a lot

eth0_ · 25-07-2005 9:27pm

Is this as common as diseases like Wilson's disease - where the body cannot dispose of copper build up and it stores desposits in all the organs including the brain - often causing the sufferer to display violent and psychopathic behaviour?

DrIndy · 25-07-2005 10:39pm

eth0_ wrote:

Is this as common as diseases like Wilson's disease - where the body cannot dispose of copper build up and it stores desposits in all the organs including the brain - often causing the sufferer to display violent and psychopathic behaviour?

No, wilsons disease is as rare as hens teeth in comparison. The interesting thing is the biphasic presentation of wilsons disease - it can be as liver problems or as neurological problems, dependent on the time of the manifestation of the disease.

Haemachromatosis is the commonest genetic disease in ireland by contrast and very easily treated - if identified early then regular blood removal keeps it in check....

The Dr00g · 26-07-2005 12:52pm

Wibbs wrote:

Wow, never heard of this before Dr00g. Thanks for the info.

Could reduction of iron in the diet help with this condition? Is there any other way to reduce the levels of iron in the blood without recourse to taking blood?

I was just wondering is this disease less obvious in women as their monthly menses would expel quite a bit of iron?

[font=&quot]No, and yes, respectively.

However, a reduction in red meat intake never did anyone any harm. It is recommended to continue eating a normal balanced diet. Iron supplements and foods that are "fortified with iron" (most breakfast cereals) are a big no-no. You see, there are different types of dietary iron that are absorbed into the body in different ways. Details are widely available on the web. Vitamin C supplements are a bad idea too (they increase iron absorption), but natural sources (fruit) are fine.

Also, don't make the mistake of generalising anything where hemochromatosis is concerned. Menstruating women are by no means immune to the ravages of any iron overload condition. The regular blood loss is a factor in their favour, but it's no excuse to dismiss the possible dangers.

As for your other questions and theories, er, I can't really comment except to say that many people have died from things like heart attack and liver failure due to having hemochromatosis and not being properly diagnosed and treated. It's nobody's fault that this condition has only become widely recognised in recent times.

There's even a book documenting the long and arduous struggle of one family to get from point a) Dad being very sick with numerous symptoms, to point b) Dad being properly diagnosed and treated for hemochromatosis and the insidious damage that it did.

The choice of the word "insidious" is very apt. Having a lot of iron in your system can lead to a very deceptive false positive during youth. It tends to make you seem, and in many ways be, quite healthy and robust. It can even give you an all-year-round tanned appearance. Hence the nickname for the condition, "Bronze Killer", which happens to be the name of the book I just mentioned.

Once again, there's reams of info about all of this on the web via a few google searches.[/font]

pablo21 · 01-09-2005 11:44am

I was diagnosed with Hemochromatosis late last year after it was discovered my dad had it. My iron count was about 550 but my dad's was a record breaking 15000! I'm currently down to 29 so I only have a venusection once every 3 months but they've been taking blood from dad every two weeks for the last year and a half and his count is still over 4500. I'd be interested in finding out as much information on the condition as posssible so thanks to whoever started this thread! As for diet, I don't think it has a major impact, from what i've been told, because there is so much removed with each venusection to render any changes ineffective, with the exception of Guinness! I would drink as much as my Da but because he was a regular guiness man, the consultant told him that he was restoring the iron as fast as they could remove it! So he's had to convert to Budweiser. Not a happy camper i can tell ya, but its for his own good!

Before he had been diagnosed correctly, doctor's had been chasing his symptoms (joint pain, arthritic pains, yellowing of the skin etc) with a host of medication some of which included iron supplements! They were actually making him worse and it was by pure chance one sunday while he was out strolling by the river and got chatting with a chap that was fishing there and he mentioned Hemochromatosis to me Dad and suggested he get tested, and the rest is history!

An interesting article I came across below.. Mentioned this to my doctor and she was completely unaware of this....

Vibrio Vulnificas

Hemochromatosis and Risky Raw Oysters

If you have liver disease and also happen to love raw oysters, you need to know about a life-threatening illness for those with liver conditions including hemochromatosis. Thoroughly cooked oysters will not harm you, but if you eat them raw, you could become a statistic.

The same conditions that make for plump, tasty oysters also create an ideal environment for Vibrio vulnificus , the bacterium that lives inside oysters harvested from the Gulf of Mexico . Surveillance Epidemiologist Colleen Crowe, with the Centers for Disease Control and Prevention, explains that oysters feed by filtering their surrounding water where vibrio bacteria thrive. When people with liver disease feast on raw oysters, they may unknowingly feast on Vibrio vulnificus as well, setting up a situation where the bacteria can multiply explosively within the body.

Most healthy individuals experience only mild symptoms such as diarrhea, abdominal pain or vomiting. Because liver disease leaves the body vulnerable to rapidly progressing infection, for those with liver conditions Vibrio vulnificus infection often ends in death.

Dr. Paul Gulig, a microbiologist with the University of Florida , is using animal models to study why vibrios are so devastating to those with liver disease. The latest thinking is that the high levels of iron in the blood may impair the white blood cells ability to fight infection. Visualize your white blood cells as your immune system's first line of defense in combating infection. When your immune system is operating efficiently, you are healthy, but when you have liver disease, the white blood cells may be weakened and Vibrio vulnificus has a heyday.

Although Dr. Gulig questions when the vibrios actually start the damage, the end result is always the same: massive infection. The vibrio bacteria move from the sea, which provides a fairly limited environment, to inside the human body, which, he says, “is like coming upon a banquet.” The bacteria then multiply extremely rapidly. ”In fact, he adds, “I tell my students that vibrios grow faster than any bacteria I've ever seen.”

In addition, he explains, those with liver disease filter blood more poorly than the general population. It's like living with dirtier blood, much like how a used oil filter in a car wouldn't do nearly as good a job as a clean filter. Once in the body, the bacteria migrate to the bloodstream where they multiply so quickly that they overwhelm the white blood cells. The victim can experience extensive soft tissue damage and septicemia (blood poisoning). According to the Food and Drug Administration's “Bad Bug Book”, only about 50% of those who experience septicemia survive.

The good news is that you don't have to give up eating oysters entirely. While raw oysters are strictly taboo, cooked oysters are much safer. Thorough cooking destroys Vibrio vulnificus and other harmful bacteria as well. The U.S. Food and Drug Administration recommends that you boil oysters until the shells open and then continue cooking five more minutes. If you steam them, wait until the shells open and time additional steaming for nine more minutes. If you are cooking shucked oysters, boil them at least three full minutes or fry them in oil at least ten minutes at 375 degrees. Never mix cooked oysters with the juice from raw ones and eat the cooked oysters soon after preparing them. Be sure to refrigerate any leftovers.

Oyster lovers may shudder at the idea of heating oysters at all, saying that cooking spoils the experience. The thrill, they claim, is in sliding the cold, sea-infused oyster down the throat. But the risk is too high. If you have liver disease, cooking your oysters thoroughly is your only defense for an already hard-working liver.

For more information on this topic, go to:

http://www.cdc.gov/ncidod/dbmd/diseaseinfo/vibriovulnificus_g.htm

http://issc.org/EDU/Links/Links.htm

DrIndy · 01-09-2005 8:40pm

Thats an interesting article, I came across that issue before. Raw seafood is normally strictly banned for people with liver disease.

Of note although haemachromatosis can become liver disease, it is not liver disease so long as well treated.

Haemachromatosis is a tricky one to catch as it has such vague symptoms until the full blown liver disease develops which is then too late for optimum management. I have also heard it is common in Tipperary and other counties surrounding. If you have a 1st degree relative with haemachromatosis (father, mother, brother) then it is simply common sense to be tested.

The Dr00g · 02-09-2005 1:03am

Just a little update from me, and a little information for him. Anyone spot 'The Two Ronnies' reference?

Had a liver biopsy a couple of weeks ago and got results yesterday. No signs of serious damage but there is a lot of iron in there and too much fat. Encouraging news. I've been advised to lose a little weight and talk to a dietician about getting the fatty liver sorted.

If you're looking for information about HH then I can recommend a good book you'll find easily enough on amazon or something - 'The Iron Disorders Institute Guide To Hemochromatosis'. It's mostly made up of excerpts from medical papers and the like, but also contains some case histories and personal accounts.

One more thing, if you have HH, don't drink. Iron + alcohol + liver = potential serious damage.

satchmo · 16-02-2006 6:46pm

I thought I'd bring this topic back up since my mum and I were both just diagnosed with haemochromatosis. My levels are around 500 - not too bad since I'm only 27 - and my mum is over 1500. My brother is clear, and my Dad has yet to be tested (but is at risk because he's definitely a carrier - he gave me the gene!). Since we were diagnosed, our doctor has started getting people tested for it and has already discovered the disease in a further four patients. So the more people that know about it the better.

Pity, I really enjoy my guinness

pablo21 · 16-02-2006 7:12pm

The Dr00g wrote:

Just a little update from me, and a little information for him. Anyone spot 'The Two Ronnies' reference?

Had a liver biopsy a couple of weeks ago and got results yesterday. No signs of serious damage but there is a lot of iron in there and too much fat. Encouraging news. I've been advised to lose a little weight and talk to a dietician about getting the fatty liver sorted.

If you're looking for information about HH then I can recommend a good book you'll find easily enough on amazon or something - 'The Iron Disorders Institute Guide To Hemochromatosis'. It's mostly made up of excerpts from medical papers and the like, but also contains some case histories and personal accounts.

One more thing, if you have HH, don't drink. Iron + alcohol + liver = potential serious damage.

Hello again! I'm just curious as to why you had the Liver Biopsy? Was there a reason to suspect Liver damage? Hope I'm not being nosy here, just curious is it something I should get checked!

Satchmo, welcome to the club. Keep us Updated on your Progress!

GuanYin · 16-02-2006 11:54pm

DrIndy wrote:

As far as I know, having haemachromatosis doesn't protect you from any other infection - but just happens to be common amongst celtic people.

Carriers are less susceptable to iron deficiency anemia, which was obviously quite common among the irish population at some point in the past.

Tree · 21-02-2006 12:00am

pablo21 wrote:

Hello again! I'm just curious as to why you had the Liver Biopsy? Was there a reason to suspect Liver damage? Hope I'm not being nosy here, just curious is it something I should get checked!

Satchmo, welcome to the club. Keep us Updated on your Progress!

excess iron is stored in the liver and pancreas. it will cause cirhossis in large amounts. it is also common for long term suffers to become diabetic due to pancreatic damage

galah · 01-03-2006 1:43pm

hey all,
I suspect I have hemochromatosis (got my blood test results, but no explanation from the doc yet, but v high iron levels, and transferrin saturation) - how did you find out about this disease? Did the doctor actually indicate it, or did you have to do your own research and point it out? What other symptoms did you have? Could there be any other explanation for high iron/saturation levels, other than this disease?

To be honest, I am sh..scared, and I also realise that this is not a medical advice board, but any info would be appreciated!

I do not have any faith in the Irish "health" system, so this makes it even worse...

Lurking pandemic - Hemochromatosis.

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