Just diagnosed

[Palula]

I was diagnosed with PBC 2 years ago after a liver biopsy. What a shock...Now they say I have - or it is caused by Antitrypsin Deficiency that's leads to lung disease, now I am realy worried....Does anyone else have this problem, and how do you deal with it.

[carmik]

HI Palula

Well you have come to the right place . My husband,Mike ,was diagnosed with Cirhossis caused by Alpha 1 Anti trypsin deficiency in 2006. He went on in December 2011 to have a liver transplant.

Alpha 1 is rarely diagnosed and there is a big campaign going at the moment to get testing done at birth.

Yes it does more commonly cause lung disease but it looks so far that if you have the liver problem, most people if they get any kind of lung problem, it is minor to the liver problem. Mike has mild Bronchiectasis which should not get any worse as his new liver is now protecting his lungs.

Have you looked up A1AD? this will explain how this is inherited and how it progresses.

There is a clinic in Queen Elizabeth Hospital Birmingham that is run by Professor Stockley, who is researching and running trials for A1AD. This is funded by the USA. You can apply via your GP to go and see him. We find that most GP's do not know anything about A1AD, does yours?.

Also there is a very good Yahoo group for A1AD which you can join and converse with others with this deficiency. You can ask me anything any time and I will try to help you.

Good Luck

[carmik]

HI Palula

Its me again.

I am queerying the fact that you were told it was PBC initially. PBC and A1AD are 2 completely different causes for Cirhossis. I would be very surprised if you have both. It sounds like you may have been given a wrong diagnosis at biopsy, maybe you weren't tested for A1AD at your biopsy.

A1AD can be tested at biopsy but can also be diagnosed with a blood test. You need to find

out how this latest diagnosis has come about.If you contact the ADAPT clinic at QE Birmingham, that is Professor Stockley's clinic you can request a kit for an A1AD blood test which will be sent in the post and when you return it will be tested in the USA. They are much more advanced re A1AD than any other country.

Good Luck

Any more questions please ask.

[Palula in reply to carmik]

Hi Carmic,

I had Blood tests which showed abnormal liver function, then had a Liver Biopsy showing PBC, Blood tests showed the Antitrypsin Deficiency, they are now looking into weather I have the single gene fault or the double gene fault, but I definately have both conditions.

[carmik]

Hi

I am surprised at that.

ALPHA 1 can cause cirrhosis and it may be that your original diagnosis was incorrect. You are obviously being tested for your "phenotype". ZZ is the worst when you would have inherited a bad gene from each parent. MZ is just one bad gene. Does not often cause a problem, but can. ZZ is worse, you hardly produce any Alpha 1 and what is produced is mis-shapen and gets stuck in the liver causing cirhossis. Also does not get to lungs to protect them.

What age group are you?.

Can you not get to ADAPT in Birmingham.?

If you are only being seen by a Gastroenterologist you need a Hepatologist preferably at a clinic in a transplant unit.

Good Luck