Anyone familiar with Wilson's Disease?

Some of you may remember my live stuff from this thread: Calm my nerves - give me some benign reasons for high liver enzymes... - In My Humble Opinion - Straight Dope Message Board

I have a sort-of-update. Every Monday I sit and watch House - I never thought I would hear a potential diagnosis from that show in regards to my health! Apparently my test results showed something interesting - my copper levels are high. This, combined with the liver enzymes, points to something called Wilson’s Disease - totally treatable, but I may have to not eat chocolate, nuts or shellfish for a while (WAH!) - or mushrooms, but that is REALLY not a problem!

I should stress that this has not been confirmed. My specialist appointment is 24 March.

Interesting to note - it’s a genetic disease so it’s something my sisters and possibly my parents may want to get checked out for - you do not usually have symptoms although an increased occurrence of MIGRAINES can be caused by the effects. Fatigue is another symptom so that’s a nice explanation for dragging my a** around - as opposed to my extreme laziness!

I understand the diagnosis is not usually caught until there is severe liver damage or neurological symptoms (for example Parkinson’s tremors - how scary would that be?) and once it gets to that point some of the damage is irreversible, so it’s worth checking out sooner rather than later. Symptoms can also include confusion and clumsiness, so my sisters and mom should really get tested ASAP - Ha-ha!

Anyway, anyone have any personal stories about it?

I thought it was pretty interesting when my genetics professor told us all about it many years ago.

-Sorry, that’s all I got, but you did ask.

I was going to post something about this earlier. I think I was going to. Wait… um, well, anyway, I just knocked over my breakfast. If I figure out what I was supposed to be adding here, I will be back.

I briefly dated a guy who had Wilson’s. According to my mother, who works in genetics, it’s a very manageable condition so long as it’s caught before any severe damage is done to your liver and as long as you take your meds.

(of course, said guy eventually broke up with me because “he’d need a new liver real soon” and “he didn’t want to put me through the stress of caring for a very sick man so soon in the relationship”… so really, you can think of Wilson’s as a handy alternative to the “it’s not you, it’s me” breakup line)

FWIW, I bumped into him many many times over the next few years, and he always looked pretty damn healthy for a man who was allegedly at death’s door. :slight_smile:

Weird how things work on the Dope. I saw a rerun of Scrubs last night and the central hook to the story was a girl with Wilson’s and I was thinking about researching it or asking here about it.

Are you starting to get the Kayser-Fleischer Rings?
That’s always been one of my favorite diagnostic signs- and it’s just so pretty…

I had a CNP diagnose one of their patient’s with it on the spot when I was volunteering at the clinic, he just looked at the person’s hair (premature frontal whitening of the hair), then location of birth (NJ), and the eyes and he knew what was going on- he then turned to me and asked me to try to figure it out as well. I was not so astute… But it was definitely one of the coolest moments I’ve had in volunteering.

Not that I can tell - my eyes are naturally green, so i am not sure how visible the rings would be in the first place. I will say that my vision has gotten worse over the past three years - could that be related? Or am i just getting old :)?

Anyway, it’s interesting to note, I have some Wilsons in my family tree - I blame them :slight_smile:

BTW ToeJam - just got weird looks in the office going to the bathroom with a flashlight to check :smiley:

Hey! Give me my disease back!

(Sorry, no real help here, just couldn’t resist)

Is this potential diagnosis coming from a liver specialist or from a generalist? If it’s not from a specialist then you should possibly take it with a pinch of salt. I assume the test you had was a serum (blood) copper level. While that can sometimes be raised in Wilson’s disease, it’s more usually low. Although the damage to the liver and other organs is due to build up of excessive stores, the genetic fault means that the liver can’t bind copper into ceruloplasmin (normally the majority of copper in blood is bound to ceruloplasmin). Ceruloplasmin should ideally be measured at the same time as serum copper (to get a complete picture) and is usually low in Wilson’s disease. Urinary copper is often high in Wilson’s disease and often meaasured as part of the diagnosis (usually on a 24hr sample).

Infections and other inflammatory processes can cause both serum copper and ceruloplasmin to be high.

Unfortunately, this isn’t something that all doctors are aware of (though I would expect a liver specialist to be). However, IANAD, I am certainly not your doctor and I don’t have access to all your test results and history, so you should certainly not take my word over that of your own doctors.

The Wikipedia article on Wilson’s Disease seems reasonably accurate - I just had a quick skim over it but I can’t see any glaring errors.

Is it something that affects the Heart?

From what I have read - it can but only after it’s gotten along for a while

Isn’t it that disease that makes you not able to show your entire face ever?

If you do have it, you could get a bedlington terrier as a pet. Wilson’s disease occurs in that breed. I’ve treated dogs with it.

It’s one of those funny things, many people think bedlingtons look like lambs, and sheep are the domestic animal species that has by far the most copper toxicity. Go figure.

Hmmm, I don’t think so, but that has the potential to make things at work interesting!

I wonder if it’s genetic, or if it’s something environmental (for my patient example above, apparently his mother and sister had unknown signs of mental illness too. Apparently, it was because they all had grown up in the same house together with the same Copper/Tin plumbing systems all their lives :smack:).

Oof, I did this when I saw “too much copper” in your post: :eek:

One of my best friends had a newborn nephew die horribly from Menkes Disease. But then I remembered you’re female, and Menkes is an inability to absorb copper, and you’ve obviously lived past infancy.

Good luck getting it sorted out!

I’ll be interested in a follow-up post, post specialist.

As mentioned above, elevated serum copper levels are not a sign of Wilson disease; the copper accumulates in tissues but both copper and its carrier ceruloplasmin are most commonly low. An “elevated copper level” is fairly non-specific.

A 24 hour urine excretion would be more significant to suggest Wilson disease.

A liver biopsy is the way to attempt a more definitive diagnosis for Wilson disease. This is usually a needle biopsy; not dangerous and not too bad, really, as a procedure.

A friend of mine has Wilson’s. It’s scarred his body so badly that he never talks to anyone without something obscuring his face.

Wilson’s disease specifically is genetic. It has autosomal recessive inheritance, which means that sufferers have two faulty copies of the gene. People with one faulty copy of the gene don’t show symptoms. If two parents each have one faulty copy then they won’t show any symptoms, but their children have a 1 in 4 chance of having Wilson’s disease.

It is possible to have copper poisoning due to excessive intake, though I think it’s fairly rare in the developed world and I would be surprised if it could be acquired through water from copper pipes, since they’re pretty widespread.