Cirrhosis, Alcohol, Ignorance and Prejudice: Welcome to the dark world of hereditary hemochromatosis

by Stephen Cobb on June 17, 2011

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Imagine the shock of getting a call from the intensive care unit of your local hospital telling you that your brother has been admitted. The doctor says your brother is delirious and combative and “in the throes of advanced alcoholism.” Furthermore, he has cirrhosis of the liver, internal bleeding, and ketoacidosis—a medical emergency in which a shortage of insulin can lead to coma or death—from newly diagnosed diabetes.

If you’ve never thought of your brother as an alcoholic such a call could be both shocking and disturbing. Of course, the story gets even more worrying if your brother turns out not to be an alcoholic. But such is the story told in this excellent Washington Post article about an almost fatal failure to diagnose hemochromatosis.

Several things struck me when I read this article, in addition to feeling terrible for Jeff Williams, the subject of the story, and his family, who are now living in the shadow of hemochromatosis. For one thing there is an amazing coincidence here. I wrote the following on this blog in July of last year:

Most people are fascinated to learn more about a potentially fatal condition [hemochromatosis] that might run in the family, might be killing relatives, and might explain why Uncle Fred had cirrhosis of the liver even though he swore he never touched a drop. (Here’s a hint: Uncle Fred might have been telling the truth–while drinking to excess is never a good idea, hemochromatosis can damage your liver in ways that mimic the effects of alcohol consumption.)

I wrote that in the context of raising awareness of hemochromatosis, the most common genetic killer in America today. I have found that people are indeed fascinated to find out about hemochromatosis and, because July is National Hemochromatosis Awareness Month in America, I was suggesting ways to make people aware.

The example of “alcoholic Uncle Fred” was actually based on my own father-in-law, who most definitely was not an alcoholic, but got accused of being a secret drinker. This happened when he was admitted to hospital in 1994 because he was feeling very disoriented (e.g. he thought it was 1964). Because his regular doctor was on vacation and unable to refute this drinking allegation–as one doctor speaking to another–the hospital doctors brushed aside the claims of mere family members that he was not a heavy drinker, just as they did with Jeff Williams.

It was only after my father-in-law died and my wife was diagnosed with hemochromatosis that the episode came into focus. His disorientation was caused by liver problems that were not alcohol-related but hemochromatosis-created. Don’t get me wrong, drinking a lot of alcohol is not good for your liver. But hemochromatosis can call cirrhosis in people who never touch a drop. And the chronic arrogance of doctors who contradict family members in blind allegiance to a textbook diagnosis is worse than not good, it is downright deadly, and sadly all too common.

I know this because several similar stories appeared on the Hemochromatosis page on Facebook within hours of me mentioning the Washington Post story. And people were quick to speak up on the Celtic Curse Twitter feed. Apparently, for some doctors and nurses, having an Irish heritage is grounds for suspicion of alcoholism, but not for considering the possibility of hemochromatosis.

All of which leads me to say this: July is just around the corner, so now is a great time to start telling people about Celtic Curse, a deadly genetic defect that occurs in a wide range of people, many of whom don’t consider themselves to be Celtic at all.

{ 8 comments… read them below or add one }

Jeff Williams June 21, 2011 at 12:52 am

Jeff here. Great commentary, and exactly on point. My problem was that I was out cold, so there was nobody to directly defend me – that being, ME! Once I awoke of course I was all over them. But we had no alternative diagnosis.. Well, it turns out the gatro DID suggest hemochromatosis, but blew it off, VERY mysteriously. Ferritin way over 1000. Check. Cirrhosis. Check. TYPE 1 diabetes. Check. NOT HH? Whhhaaaaahhhhh??????
START telling people? Hah hah! I’m the PIED PIPER, you can be certain of that! Well, I suppose that’s obvious by now. Anyhow, thank you very, very, very much for an accurate perspective on the problems with HH and the average American male. You’re doing Yeoman’s work! God bless you.

Jeff

PS my detailed rundown of the incident is at http://www.78thfrasers.us/my_story.htm

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Ruth-Anne White July 14, 2011 at 12:11 pm

My mother never, never knowing who her father was, was diagnosed in her 50s with this diseased. It was explained she produced to much iron which was attacking her liver and kidney’s. Every month she had her blood let, and we have all been told to stay away from foods high in iron. I have, and yet my blood is RICH with iron, better than average I am told. Sad I love liver and onions, but haven’t had it since my 20s. My sister in law’s family also has this disease and angina, so her son has to be tested regularly. Two family members have died of it. She is Irish decent, my mother French. Funny how Ireland has mostly French heritage from the revelution. Northern Ireland anyway. fyi.

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Stephen Cobb July 14, 2011 at 1:03 pm

Sorry to hear your tale of family illness. Hope you are taking care of yourself. Just to be clear on the “Celtic” part of Celtic Curse…most of Europe is Celtic when it comes to genes. My wife’s background is French and Irish and she has the classic homozygous C282Y version of HH. But there are people who self-identify as black or African-American who have the same condition. This HFE genetic defect goes back a long way, long enough for it to have spread to many parts of the world. We decided to call this site Celtic Curse to try and capture people’s interest, but HH is certainly not confined to people who think of themselves as Celtic.

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Mitch Britton November 8, 2011 at 10:37 am

I read Jeff Williams story with interest and am surprised by the contrast with
my own story. In 2010 at the age of 48 I went to the doctors’ with
a chronically swollen knee. After a blood test revealed a serum ferritin
level of 2400 my GP in the south side of Glasgow almost immediately suggested that
hemochromatosis could be the cause and had it confirmed by an HFE gene test
a week later. Nobody even hinted that I might be an alcoholic. Unlike Jeff I do not appear
to have suffered major organ damage although only time will tell. It’s interesting
to see the variability of doctors’ predjudices and diagnoses and also disease outcomes in
what should be similar cases.

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gerry wilson December 9, 2012 at 5:36 am

Hi there,I’ve recently been diagnosed with this condition after alarm bells started with my son being diagnosed last year,he’s now having phlebotomy and levels are thankfully dropping.my brother of 60 was also diagnosed with levels. Above 6,000,and hasn’t. Been able to work since,my treatment has yet to start my levels are 4,000 plus,2 older brothers are yet to be confirmed and reading the lines they also fit the bill really symptoms, thanksfor your blog. Regards Gerry. Wilson.

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Don Cameron August 1, 2012 at 11:57 am

My story is much like the others, I had complained for years about chronic fatigue, brain fog, depression and joint pain mostly in my fingers and knees. After many x-rays, RA tests and physiotherapy, my Dr told me that “It’s likely some kind of virus that will eventually go away”. I found a new Dr the next day.
The new Dr didn’t find much either until my liver enzyme numbers got a bit high and he sent me to a liver specialist that knew what to look for. My tests showed that my serum ferratin was 6855! I had the genetic test that confirmed type 1 HH and started phlebotomies 2 times a week.
I am now down in the under 50 range, hurt in every joint I own and have cirrhosis. I still have to nap every afternoon and fight depression constantly but my liver numbers have come down almost to the normal range.
I often wonder what my life would be like if only someone had run a simple ferratin test on me a few years earlier.

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Siobhan August 3, 2012 at 6:59 am

Ii have just been diagnosed with HH with ferratin levels of 1500 and start phlebotomy treatment of losing a pint of blood every 3 weeks. I am not an alcoholic. My liver is already damaged, and is not the only part of my body that is affected/damaged to a degree saddly. I have a family doctor who has been asking for 5-7 years now if I drink excessively and each time I say no, he being a reformed alcoholic himself would say “now admitting it is the first step…” why did they not test for this years ago ……with a name like Siobhan and both my parents from Ireland, you would think that it should have come up especially when I would have my husband come to my appointments to tell him NO I do not drink other than the odd glass of wine…. So now I am 48 and have just learned about Hemochromatosis only to find out that I have 3 cousins afflicted with the same thing. PEOPLE YOU HAVE TO SPEAK OUT!!! If I had known, and it is nothing to be ashamed of, it’s a hereditary disease, it’s genetic, in other words pre-determined at birth, had I known about it, or my doctor known about it we could have caught it YEARS earlier and perhaps I would not be faced with damage to more than one organ and to my joints, and my levels of exhaustion that I have now. I am 48 and living as though I were 80. In fact I know some 80 year olds that are more active than I am. I managed to get my certification teachers certificate in Aqua fit, water aerobics, and now can barely make it in the pool. I have a year of phlebotomy treatments to undergo and have been told that the pain I have daily now is going to get worse and less energy. People be aware and talk about it, not behind closed doors. SPEAK OUT and make sure that others not only know about it and can potentially save someone else but also get the recognition it needs to have some medical advancement done so that a cure may someday be a reality.
Thanks for listening, I just had to get that off my chest.

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jana skinner June 28, 2013 at 8:35 pm

I was diagnose with HH in August of 2012, I lived in Ketchum ID for 24 years, new the Hemingway’s including Maguix. My only sister died 8 years ago, and looking back she had the same signs I was having 3 years later, I was 6 years her junior, and never heard of HH. now I now it is what Dr Grossman, a hormone replacement dr.

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