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Arm pain, dizziness, confusion, abnormal blood test results, ultrasound normal. Family history of ulcerative colitis. Do I have Wilson's disease?

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Gastroenterologist, Surgical
Practicing since : 1989
Answered : 883 Questions
I'm 29 years old, male and I have been very ill for 9 months now.
Approximately a year ago I moved to Spain from UK and initially I partied quite hard at the weekends, during one of these sessions I consumed more than an average amount of cocaine and mdma and started to feel unwell in a way I'd never felt before. I went home early, went to sleep and woke in the middle of the night with massive shooting pains down my left arm. At the time I felt like I needed an ambulance but this passed and over the course of the next few days I felt somewhat better.
In the week that followed on and off I felt extremely confused to what I would now describe as brain fog. I felt as though this was a result of a heavy weekend, I would just stay healthy for a while and things would return to normal. I constantly felt dizzy and at times I felt what I thought was vertigo, having to hold onto things just to maintain balance, coupled with the confusion an inability to maintain fluid conversations and a lethargy that I'd never felt before. Visits to the GP were fruitless mainly because of my poor command of the spanish language and their seemingly obtuse view of my symptoms. Finally one of the GP's suggested I see an ENT with regards to my ongoing balance issue, ENT initially diagnosed me with something which I can't even recall only for him to retract that diagnosis 20 minutes later when a more XXXXXXX doctor intervened and said it was probably menieres. They done a few hearing tests and said although I have lost no hearing they believed it to be menieres. I was prescribed SERC, told to go on a low sodium diet and sent on my way. This was in September of 2011.
The medication and my new found healthy lifestyle made no difference to how I felt at all, I continued to go back to the GP and he ordered blood tests. My blood pressure was averaging around 160/95 in the doctors office and susequently I was told to go and get this pressure taken 3 times daily at varying times of the day.
The blood tests had a few abnormalities, most worryingly were the liver results.
AST - 324 U/L <35
ALT - 85 U/L <45
BILIRUBIN - 35 umol/17
other abnormals included blood in urine and low HDL 32.9 >40
By this stage, which was now December of 2011 and now 6 months after starting to feel ill I was referred to a Gastroenterologist. I had been researching a lot myself into what it could be and found countless things I could attribute the symptoms to but I'm not a doctor. Worried about my health and whilst waiting for gyno app I returned to the UK to see my GP there who ordered repeat blood tests and an ultrasound. The ultrasound shown nothing, all clear. The blood tests taken were far more investigative and they included full blood count, differential white blood count, coagulation, blood haematinic, thyroid and virology screen. All of these seemed relatively normal or at least in the reference ranges and neg for hep a,b,c and hiv. However the LFT's still remained questionable AST had came down to 90.. ALT was 86. Bilirubin still the same. But one more test came through, a copper test which shown that my ceruloplasmin was 0.16 g/l and serum copper was 12.9.
I realised that the GP had the foresight to check for Wilsons as in line with the now more frequent debilitating neurological symptoms that were and are becoming worse. The shaking hand tremors, the lack of coordination, at times slurred speech, the horrible inability to think and the overall feeling like my general intelligence has nose dived.
I took these results back to the gastro here in Spain and he ordered a repeat of the same tests. They were very much the same except the AST has dropped significantly gain, ALT remains pretty much level as does bilirubin, GGT is now mildly above reference range which it wasnt before. The doc suggested it was all drink related, although I havent even had a sip since that first night I fell ill 9 months ago and even prior to that I was really a big drinker, I would never drink everyday, only on weekends although admittedly to excess at times on weekends and yes I occasionally misused narcotics. All of that is in my past, I haved lived extremely healthily ever since I first got ill, my diet is very clean.
My sister has Ulcerative Colitis and my other sister has had polyps removed at 23. I asked the doctor about a possibility of either and he laughed at me and said people don't get UC before 40. Although I know someone who wears a colostomy bag at 25 from it. I have hemorrhoids. I asked the gastro about the wilsons disease he laughed harder and said the results above show that its negative for wilsons disease, although from everything I read it contradicts that?
My average heartbeat sits at around 100bpm and has done all this time or certainly since I have been checking, my average bp is around 150/90. I am ill pretty much consistently now, I have days were I am worse and have slept up to 16 hours during those days. I have passed out several times over the last 9 months and feel like i'm more likely to all the time, just drop from exhaustion. I often have massive heart palpitations which the doctor says sound like ectopics.
All I want is my life back and I want that to start with some positive direction from a doctor. Every encounter I've had with a doctor so far has been negative, I feel gravely ill. I can only just about manage a day at work and then I need to sleep almost straight away. My whole life has been taken away by this illness.
Where do I go? What do I need to say to a doctor? what tests do I need? was the doctor wrong? could it be wilsons? Please, please point me in the right direction and tell me what I need to say to the doctors and which doctors I should see to finally sort this out. I honestly feel like its killing me.
Posted Mon, 21 May 2012 in Liver and Gall Bladder
Answered by Dr. Ketan Vagholkar 15 hours later

Thanks for posting your query.

Your symptoms seem to be related to a combination of alcohol and cocaine.

Cocaine causes vasospasm of the vessels supplying blood to vital organs such as brain and the heart as seen in your case.

You need to get a toxicology profile, Computerized Tomography (CT) Scan of the brain and a thallium scan for the heart.

If any of these is positive then further treatment in that direction is indicated.

Hope I’ve answered your query.

Above answer was peer-reviewed by
Follow-up: Arm pain, dizziness, confusion, abnormal blood test results, ultrasound normal. Family history of ulcerative colitis. Do I have Wilson's disease? 1 hour later
This is a VERY vague answer.

Toxicology profile already came back clear.

Can you provide more detail?
Answered by Dr. Ketan Vagholkar 18 minutes later

Since you are looking for a detailed answer let me try this way. I take question by question:

You are a 29 yr young man with extreme fatigue for 9 months, malaise, some neurological symptoms and frequently passes out. Your blood profile including infectious disease profile looked normal. However your liver Function tests were above normal with AST 90, ALT 87 and Serum Bilirubin 35 umol/l and low HDL. You have not given Total Protein, Serum Alb and Globulin results. Your BP was always high over 150/95. You were consuming alcohol and abused cocaine, narcotics frequently earlier to the onset of these symptoms. For the past 9 months you kept everything right in terms of diet and personal habits and still not able to come back with normal health as it was earlier. There is a family history of Colon polyps. You came out clean on heart examination as well.

1) Though you corrected the way to live and the toxicology is normal, we need to understand the effects of illicit drugs on the heart and brain. For this I prefer to get a CT brain done to look for brain changes causing exhaustion and frequent passing out. Cocaine abuse cause ischemic changes.

2) Though the cardiologist assured you of benign ectopics with a cardiac examination. For an objective evidence you can ask him to test with an ECG and 2D ECHO for functional output. If that shows ischaemic changes then a thallium scan of the heart needs to be done. At this time it also makes a lot of sense to treat the high blood pressure. Take the Cardiologist opinion on this too.

3) Whether you have Wilson's disease or not?
Unlikely, as you were assured by the Gastroenterologist that the Serum Copper and Ceruplasmin levels are within normal limits. You do not give a strong family history to suspect further. If you wish to have an objective evidence you can pursue further with Ultrasound of abdomen to look for cirrhotic changes in the liver. If present, a liver biopsy can definitely confirm Wilson's disease.

The liver enzymes are getting better and this is a good thing to note. This might be because of the clean practices followed by you. It is good to repeat them once every 6 months or as advised by the treating doctor.

4) The reason for fatigue are several. A high blood pressure, impaired liver function, a nutritional deficiency usually associates alcoholism, mild depression. Even though you had stopped consuming alcohol the cells takes much longer time to get back to the original state of metabolism sometimes it can be for years.

5) A mild elevation in GGT (Gamma Glutamyl Transferase) is also specific for alcohol reasons for liver impairment.

6) There is a family history of colon polyps. A stool test and a screened with a colonoscopy. Ulcerative colitis causing these symptoms is not possible at all.

7) Alcohol intake coupled with Vitamin deficiency can cause neurological symptoms. A neurologist would be able to better relate them: shaking hand tremors, the lack of coordination, at times slurred speech, the horrible inability to think and the overall feeling like my general intelligence has nose dived.

8) I do not intend to hurt you but I advise you to undergo screening for depression. A mild form of depression is underestimated several times to be the cause of prolonged exhaustion.

9) It is also worth to get your diet scrutinized by the local qualified dietitian.

In summary, I believe your GP should be the driver. Let your GP confirm the benign nature of your problem with objective evidences like the above tests. GP should take informed opinions from all the specialists mentioned above.
Above answer was peer-reviewed by
Follow-up: Arm pain, dizziness, confusion, abnormal blood test results, ultrasound normal. Family history of ulcerative colitis. Do I have Wilson's disease? 1 hour later
Thanks for the more detailed response.

with regards to the wilsons part, the gastroenterologist actually said the results would be the opposite and the copper would be high in my blood.

I've read about this and its the opposite, from everything I read it says below 0.2 ceruloplasmin and below 12 free copper should be suspected when neurological symptoms are present.

My results were 0.16 (below)and 12.9(low normal). So I'm not sure how that's negative, please give me detail on what the reference ranges would be for it to be investigated further.

I appreciate the answers
Answered by Dr. Ketan Vagholkar 14 hours later

The diagnosis of neurological Wilson's disease is usually made on the basis of clinical findings and laboratory abnormalities. No additional tests are required if Kayser-Fleischer (KF) rings are present and/or serum ceruloplasmin levels are low. However, there are a few well-documented cases of neurological Wilson's disease without Kayser-Fleischer rings. Clinical neurological examination is more sensitive than any other method. Hence I was suggesting a Neurologist exam in my earlier reply.

The lab value units differ from location to location. So check the units while you are trying to interpret. I would not be able to detail on values without clinical examination signs as it may unnecessarily raise an alarm.

However the features confirmatory of wilson's disease are
1. A history of close relative suffering from Wilson's disease.
2. Serum Ceruloplasmin levels less than 0.2g/l ( it is low normal in your case).
3. KF rings in the iris(Eye) - A neurologist exam
4. MRI (Magnetic Resonance Image) brain showing typical findings of hyperintensities in the basal ganglia.
5. Cirrhosis of liver

Hope this is clear.
Above answer was peer-reviewed by
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