I was browsing the Iron Disorders Institute web site last night and came across a story about hemochromatosis in an Irish newspaper. Since hemochromatosis is known as the Celtic Curse–on account of its relatively high rate of occurrence in persons of Celtic ancestry–I thought this would be an interesting perspective on my wife’s condition (and it could be a story you missed if you searched for hemochromatosis because the spelling of haemochromatosis is used, as in England).

How Irish is the Celtic Curse? Across Europe as a whole the chance of someone experiencing iron overload are one in 400; in Ireland, it’s almost five times higher at one in 83. And one in five people in Ireland carry the gene that can lead to this condition. Of course, the problem is not confined to the Emerald Isle. With so many people having emigrated from Ireland to North America over the centuries it shows up pretty widely here as well.

The article is a good introduction to the condition with enough detail to give you a clear picture of the implications without getting too technical. It’s also an interesting non-American perspective. What it does not explore in much depth is the distinction between treatment of iron overload and treatment of organs damaged by iron overload.

In other words, it is relatively easy to reduce iron levels through blood donation, not so easy to cure the damage to liver, pancreas, heart, joints, and various parts of the endocrine system. Indeed, some of that damage, due to failure to diagnose hemochromatosis at an early stage, can be permanent and leave a person–as in my wife’s case–with a pretty miserable quality of life. That’s why there’s a great need to increase awareness of the Celtic Curse in the general population and in the medical community.

Which brings me back to the Iron Disorders Institute. It is an institution worthy of support. My wife recently completed a detailed study the Institute is doing on the experiences of hemochromatosis sufferers. My guess is that it will reveal a shocking lack of knowledge about the Celtic Curse in the American medical community, and a dire lack of treatment for all its effects.

The following is a recap of things I have learned from my partner’s experience with hemochromatosis, a.k.a iron overload. I wrote this up for a support forum which is private, but I thought it would be helpful to make it available to anyone looking for information on this insidious condition. BTW, the circle+arrow symbol on the left is the alchemical symbol for iron, and yes, it is the same symbol that is used for the planet Mars and for the male of the species (I’m not going to touch that one, I have a hard enough time avoiding “ironic” puns when writing about this stuff).

[Disclaimer: I am not a doctor. Seek medical advice before acting on, or drawing conclusions from, anything I say here. By all means Google this stuff, but do so sensibly (check the bona fides of the folks writing what you read, distrust any site that is selling a cure, and look for the HONcode which is a good sign).]

When blogs or online forums mention hemochromatosis, also known as iron overload, they often leave you with more questions than answers. This is not surprising because hemochromatosis is widely misunderstood (and widely under-diagnosed e.g. if you know someone who has been diagnosed with chronic fatigue or fibromyalgia you really should check out hemochromatosis–if untreated it can kill).

You often hear “hemochromatosis can be treated” as though that was the end of the story. Not so… It is true that blood-letting or phlebotomy can reduce the amount of excess iron in the body (which gives the condition its name). However, most hemochromatosis is hereditary and cannot be cured. A person who has hereditary hemochromatosis today has had it since birth. The presence of excess iron in the body over the years may have done irreversible damage before the condition is diagnosed or treated. And getting treatment is seldom as easy as it should.

I know this, because my partner has hemochromatosis which is being treated with phlebotomy, but she nearly died from, and has been disabled by, the effects that the iron overload had on her all those years that it went undiagnosed.

So how does hemochromatosis disable a person if not treated? Let me count the ways. It leads to iron build-up in the joints, the heart, the liver, the gall bladder, and glands like the adrenals, thyroid, and pituitary. (More in a moment on what those things means to one’s health).

Untreated hemochromatosis leads to cirrhosis of the liver even in people who don’t drink, and hastens cirrhosis in those who do drink). It can eventually lead to liver cancer and contributes to heart disease. Have you got any family members who have liver problems but swear they don’t drink? They may be telling the truth. Pay particular attention if you have Irish ancestry–hemochromatosis is more prevalent in Celtic genes (see “Celtic Curse“).

Remember I said hemochromatosis was hereditary and often incorrectly diagnosed? My partner had surgery on both shoulders then had her gall bladder removed way before any doctors connected the dots. Looking back, her mother died relatively young, of a massive stroke. Her mother’s sister died very young from liver cancer. Her father had a triple bypass at 50, then disabling and mis-diagnosed liver disease at 60. Serious heart problems contributed to his death at 70 and that of his son at 40 (ages approximated in the interests of privacy).

An uncle still living has been disabled (and hammered financially) by severe heart problems. Hemochromatosis was at work in all those people but never diagnosed.

So what happens when the adrenals, thyroid, and pituitary fail or malfunction due to hemochromatosis? The list of consequences is long, but worth noting, so here goes:

Adrenal insufficiency or failure: Muscle weakness and fatigue; Weight loss and decreased appetite; Darkening of your skin (hyperpigmentation); Low blood pressure, even fainting and loss of consciousness; Salt craving; Low blood sugar (hypoglycemia); Muscle or joint pains; Irritability; Depression; Pain in your lower back, abdomen or legs; Severe vomiting and diarrhea, leading to dehydration. (Note: there are variations on adrenal issues, c.f. chronic adrenal insufficiency, hypocortisolism, hypocorticism, Addison’s disease.)

Adult Growth Hormone Deficiency: Weakened heart muscle contraction and heart rate; Increased arterial plaque and blood pressure; Elevated lipids or fats in the blood (cholesterol, LDL, triglycerides); Decreased exercise capacity due to decreased cardiac output and decreased metabolic rate; Abnormal body composition (increased abdominal obesity–waist to hip ratio); Decreased bone density due to decreased synthesis of bone; Increase in fractures and osteoporosis; Decreased muscle strength and muscle size; Decreased lean body mass; Increased fat mass; Low blood sugar (dizziness or fainting weakness or tiredness, headaches); Poor concentration or memory; Decreased sexual desire; Sleep problems; Shyness and withdrawal from others; Nervousness or anxiety and decreased social contact; Sadness or depression.

Hypothyroidism: Fatigue; Weakness; Weight gain or increased difficulty losing weight; Coarse, dry hair; Dry, rough pale skin; Hair loss; Cold intolerance (you can’t tolerate cold temperatures like those around you); Muscle cramps and frequent muscle aches; Constipation; Depression; Irritability; Memory loss; Abnormal menstrual cycles; Decreased libido.

Now, I can honestly say that in the past 5 years my partner has experienced all of the above except for the darkening for the skin. And in fact, I left one out. At the end of the list of symptoms of adult growth hormone deficiency cited by the Human Growth Foundation is this one: Feelings of hopelessness. When I read that I thought to myself: “Surely it would be a miracle if you experienced all the other symptoms and didn’t have feelings of hopelessness.”

I know my partner has feelings of hopelessness, even though she is an amazingly strong person. She is taking supplements to cope with the 3 deficiencies she suffers (thyroid pills, cortisol pills, and daily growth hormone injections). Although the side effects of these can be very unpleasant, and it’s very tricky to get the mix right, she is making enough progress to fend off the worst of the depression (she is also taking pills for that of course).

All of which could have been prevented! Let me repeat: It was all preventable. A simple and relatively affordable genetic test is conclusive for hereditary hemochromatosis. Monitoring iron levels in the blood can indicate when phlebotomy is required. Unfortunately, due to a bizarre set of circumstances the iron tests that are vital in dealing with hemochromatosis are not routinely performed in America and, iron-ically, phlebotomies for hemochromatosis are a lot harder to get than you might think.

Would you believe that blood iron saturation tests were the subject of massive fraud cases settled in 1996, causing the tests to be dropped from “standard” panels. That single twist of fate kissed goodbye one of the best screening tools for hemochromatosis in the very same year that doctors discovered most hemochromatosis was genetic. Which was also the year that many clinics started to refuse blood donations from people who had lived in Europe (due to mad cow disease).

Guess who had lived in Europe? My partner and I. Guess who were big blood donors until 1996? My partner and I. And 1996 is when her health started to decline. Very slowly at first, but then accelerated by menopause (monthly blood loss due to periods tends to fend off the effects of hemochromatosis in women so they are often diagnosed later than men, but with more damage done).

And guess why many U.S. clinics won’t take hemochromatosis blood? Because they have no code for it in the system. (That’s what I heard and I’d love to be proven wrong, but it took our local health system four months to give my wife her first phlebotomy after her hemochromatosis was confirmed).

So there you have it, more than you ever wanted to know about hemochromatosis, from how you spell it to what it may do to you if not properly diagnosed and treated.

Of course, I should remind you I AM NOT A DOCTOR, so please seek medical opinion on this stuff if you suspect it is present in your life or that of your loved ones. But DO NOT ASSUME that your doctor, however kind and/or dedicated he or she may be, knows as much about hemochromatosis as you do, now that you have read this.

References:
http://www.endocrineweb.com/hypo1.html
http://www.mayoclinic.com/health/addisons-disease/ds00361
http://www.hgfound.org/res_aghd.signs&symptoms.html
http://www.irondisorders.org/Disorders/Hemochromatosis.asp
http://live.psu.edu/index.php?sec=vs&story=10913&pf=1

So, in the continuing iron overload saga, it now appears that my wife’s hemochromatosis has had three major impacts, or impacted three major glands (thyroid, adrenals, and pituitary). Although a course of phlebotomy is underway to treat the hemochromatosis, dealing with damage to the glands is more complicated.

Consider the Human Growth Hormone deficiency due to the damage to the pituitary. It’s not like HGH is something you can get over the counter at the local pharmacy. The substance itself is unstable, requiring special handling, and it very expensive to produce. And thanks to years of mindless abuse by selfish greedy so-called “athletes” HGH is not easy to get (in the State of New York it’s a controlled substance, with all the hassles that designation entails).

On the upside, there is some good support out there for sufferers of human growth hormone deficiency, which mainly occurs in children. The adult version is known as Adult Growth Hormone Deficiency or AGHD. I was amazed to learn how much of an impact AGHD can have on a person. Consider this list:

1. weakened heart muscle contraction and heart rate
2. increased arterial plaque and blood pressure
3. elevated lipids or fats in the blood (cholesterol, LDL, triglycerides)
4. decreased exercise capacity due to decreased cardiac output
5. decreased energy due to decreased metabolic rate
6. abnormal body composition (increased abdominal obesity–waist to hip ratio)
7. decreased bone density due to decreased synthesis of bone
8. increase in fractures and osteoporosis
9. decreased muscle strength and muscle size
10. decreased lean body mass
11. increased fat mass
12. low blood sugar (dizziness or fainting weakness or tiredness, headaches)
13. poor concentration or memory
14. decreased sexual desire
15. sleep problems
16. shyness
17. withdrawal from others
18. nervousness or anxiety
19. decreased social contact
20. sadness or depression
21. feelings of hopelessness

The bad news is, my wife has experienced all of these. The good news is, HGH could reverse any or all of these. So if you read the list as one of positive possibilities it’s quite exciting, like #5: “Increased energy due to increased metabolic rate.” I know she’d like that!

Of course, there’s a long way to go yet. AGHD is a pretty nasty thing to be hit with. When I first looked over this list and got to number 21 my reaction upon reading it was: “That’s entirely understandable!”

List source: Human Growth Foundation metabolic rate”

Each time I blog about hemochromatosis I hear from people affected by this daunting and life-threatening condition. Often these people are frustrated with doctors failing to recognize the condition and with the slow pace of diagnosis and treatment. Fortunately, if you are one of these people, there is a supportive community you can join, online, via email.

It’s called The Excess Iron List, and it includes people from all over the world, people who are dealing with this condition, supporting each other through sharing their experiences. But before I give you the link for this, I want to point out that it is an email discussion list, not an online forum or chat room. That makes it one of the oldest means of getting together over the Internet.

If you haven’t used one of these lists before it can seem a bit strange at first (just to be clear, when you join, you are NOT being put on a public mailing list to get unsolicited information–and the list is moderated by a person, not a machine). The basic operations, like joining the list or leaving it, are carried out by you sending blank email messages to a special email address. For example, to join you send a blank email to: ExcessIron-on@mail-list.com

Fortunately, when you do that, you will get a reply that explains how the system works. The big payoff is being able to share with other people who have an interest in iron overload. So, if you’re interested click here for details of The Excess Iron List. The page is hosted at the Iron Disorders Institute, a reputable source for information about hemochromatosis.

Well, I went the whole month of March without blogging about hemochromatosis, more specifically, my wife’s hereditary hemochromatosis or HH. However, March brought good news on the HH front: The blood-letting has begun!

(BTW, I trust people “got” that the image which accompanied my February post on phlebotomy was the barber’s chair from Sweeney Todd.)

No fancy graphics this time, but I am hoping to capture video of what happens when the phlebotomist draws Chey’s blood, so read on. Early in March a hematologist prescribed a course of 4 weekly blood draws (part of the delay was the fact that Chey collapsed on the way to her first appointment with this doctor).

At this point, 2 of the 4 have been done. We don’t yet know the effect on her iron levels, but I’m guessing there is still a long way to go. Why? Because the phlebotomist has to brace herself against the chair to draw the second and third vial of blood.

That’s right, even though Chey has been fitted with a port to facilitate the process, the blood is so thick it is hard to suck out. As far as the phlebotomist, a.k.a. nurse-with-big-needle, is concerned, this is a likely sign of excess iron in the blood.

In the meantime, efforts to assess, fix, and/or compensate for, the damage that HH has done to Chey’s endocrine system are ongoing. Unfortunately this is very hit or miss at the moment. Some days she feels almost okay, but many more days she feels extremely fatigued, emotionally dizzy, and prone to hot flashes of Biblical intensity. This emotional dizziness means going from frantically alert and in danger of sleep drepivation, to mordantly comatose with generalized body pain, with outbreaks of uncontrolled weepiness in between. In other words, no fun at all, not to mention a real strain on the washing machine.*

But we’re not giving up home on the phlebotomy treatment. The hope is that reducing the iron in Chey’s system will enable some of the damaged or under-performing organs to rally and return to normal. After all, this is the year of Hope.

Ed: Sorry if the washing machine reference was a bit obscure. It comes from the fact that Chey has to change clothes many times a day when she gets these soaking sweat attacks. Think of cartoon sweat, squirting from a person’s head…it’s like that only for real. I kid you not.

The medium may not be the message but it sure shapes it. I need to let a lot of people know what happened on Chey’s long-awaited visit to the hematologist (that’s haematologist for British readers).

Should I email everyone? Maybe use a bcc with a friends and family list? But then people would feel obliged to respond. Should I blog it and hope people will see it here? Maybe I should Facebook it? How about Twitter? Too late for that. But what the heck, here’s how it would have appeared on Twitter if I had tweeted it, starting after lunch on Thursday:

zcobb: Heading over to Cooperstown to the clinic for Chey’s hematology consult. Hoping this doctor will OK phlebotomy for her hemochromatosis. 01:50PM

zcobb: Just checked Chey into Oncology. She doesn’t have cancer but apparently that’s where hematologists hang out. Now headed to 2nd floor for my appt. 02:16PM

zcobb: Waiting for my quarterly checkup. No problems (apart from usual high BP/low depression). We synched up our visits to reduce carbon footprint. 02:23PM

zcobb: Sitting in Room D. Weight not bad (200lbs) BP not so hot. Wonder how Chey is doing. She seemed a bit woozy when I left her in waiting area. 02:28PM

zcobb: OMG, the PA just announced “Crash team to Oncology STAT” and I had this weird flash it could be Chey. But then I’m like “No way.” 02:33PM

zcobb: Way. How to tell your day’s gone off the rails: A nurse interrupts your meeting with your doctor to say “Your wife’s been rushed to the ER.” 02:46PM

zcobb: OK here’s the scoop: Chey collapsed on her way from the waiting area to the doc’s room. Pulse high, BP low. Oncology staff very flustered. 02:49PM

zcobb: Benefits of a small town: ER is across road from doctor offices. Found Chey. She’s stable. Wired up to a bunch of monitors but OK. 02:58PM

zcobb: Apparently she passed out briefly, came around as they tried to get her onto a stretcher. Emergency response not common in Oncology? 03:01PM

Needless to say, I did not have time to tweet. But that doesn’t mean it didn’t happen, and about like that. Some missing details. For example, the nurse took my BP before the crash team announcement. The doctor took my BP after I knew Chey was headed to the ER, and it was lower than when the nurse took it. What’s up with that?

But enough about me. Here’s what has happened with Chey after she got to the ER. She has been seen by several doctors and was held in the hospital overnight for observation. In fact, she has become something of a celebrity, as in: “The lady that collapsed in Oncology.” Or perhaps a cause célèbre, as in “Don’t go collapsing in our building and expect to get away undiagnosed.”

A fresh doctor on the scene has gone over all of Chey’s tests. He has prescribed some steroids because he thinks Chey’s adrenal glands are damaged. This might explain the extreme fatigue, sweats, stomach pains, body pain, and irregular heartbeat she has been experiencing for the past two weeks. This evening Chey said she is starting to feel some positive effects from this treatment. Latest word is she will be held over until Saturday afternoon.

The same doctor came out with this statement: “I think all of your problems can be traced back to hemochromatosis.” Hallelujah! Is this not what we have been saying since the original diagnosis last November? Do you really have to crash inside a clinic to get people to take you seriously?

Furthermore, the same fresh doctor said: “We will get your phlebotomies started as soon as you are stabilized.” Hallelujah!

So, overall not a bad outcome. Feels like we’re making progress. I would write more but I think the dog is missing Chey; she’s curled up so close to me my left hand can’t reach the keyboard. Can just reach the Publish button. There should be more this weekend.

I promise I am not going to turn this into The Hemochromatosis Blog but blogs tend to follow what’s happening and hemochromatosis is what’s happening right now to my best friend Chey.

It’s happening because it’s a progressive and incurable genetic condition. And it’s also happening because new stuff keeps cropping up. Like today, I found two new things that generic iron overload can trigger (these are ‘new’ as in I never knew about them before). The first is arrhythmia, irregular heartbeat. If you’ve ever experienced arrhythmia, as in atrial fibrilation, you know it can be quite unsettling.

Well today, Chey was experiencing arrhythmia. So, I look it up on Google and what do I find: “arrhythmias are the most common cause of sudden death in hereditary hemochromatosis patients,” according to this set of slides on Increasing Physician Awareness of Hereditary Hemochromatosis. (BTW, these slides by Dr. Kristen J. Schwall, from the Department of Internal Medicine at St. Barnabas Medical Center should be required reading for all doctors.)

According to the Journal of Interventional Cardiac Electrophysiology, hemochromatosis has been associated with atrial tachyarrhythmias and congestive heart failure as a consequence of dilated or restrictive cardiomyopathy. Oh that’s just great!

Then as a side effect of Googling, I find a study published by the National Cancer Institute in 2003. This suggests that the two genes, C282Y and H63D, which are linked to hereditary hemochromatosis, may lead to an increased risk of developing colon cancer.

Doctors found that subjects with at least one copy of either of the genes were 40% more likely to have colon cancer than those without. (No word on what it means if you have two copies of C282Y, which Chey does, but I doubt that helps things.) They also found that the risk of cancer increased with age and greater iron intake. The researchers believe that at least 15% of the population carries at least one copy of the mutated gene. They think the study could lead to improved colon cancer screening protocols. Wouldn’t that be ironic? Hemochromatosis screening gets funded as a colon cancer prevention strategy.

So here’s the deal. We are waiting for a doctor’s appointment on Thursday at which Chey’s iron overload treatment should finally begin (if not, the hills around Cooperstown will probably ring with screams of “Why not?”)