AAT deficiency what should I expect?

[Krystinamarie]

I was recently informed that I have alpha 1 antitrypsin deficiency (MZ). I've had "significantly high" liver enzymes for the last 8 months with my symptoms being extreme fatigue, itching, insomnia, and brain fog. I have no lung damage and I had a liver biopsy a couple days ago and I am waiting for the results.
My question is what can I expect in the years to come if I'm already having problems? Do people typically need a transplant? Although there is no cure are they ways to make the symptoms more manageable?
Thank you in advance

[Nomderploom]

Hello Krystina,
I also have this disease. But I have no M in my enzymes. Of the five levels, I am number four.
Can't say I understand it all but I think mine is quite serious. I was hoping to fond someone to talk to about it.
The only symptom I have is severe itching....all over! Torture.since my latest fibroscan a month ago, my levels had worsened (missed a scan last year due to Covid).
This hit me somewhat hard, so now I have well and truly'bitten the bullet'. Exercise a little, daily; no alcohol (never drank loads anyway), and really healthy eating. I'm told this is the only way to improve things. I'm also taking Milk Thistle daily.

[rpwoodard]

Kristinamarie,
4 weeks is way too long to wait for results from liver biopsy. Have you tried calling the doctor who performed the biopsy, or the doctor who ordered the biopsy(if it was a different dr)? If it was performed at a hospital, you should be able to get the results directly from the hospital at this point.

A friend had a biopsy at a hospital. I created a patient login for her & we were able to access the biopsy report online.

I'm not able to share about my friend's condition, because I'm not anonymous here. I want to protect her privacy.

What doctor is managing this with you--a liver specialist (hepatologist)? Gastroenterologist?

I hope that you are with a hepatologist. From what I've seen, if you have liver issues they are the best specialist to see, vs a gastroenterologist who sometimes has patients with liver issues.

I've seen often in research and in anecdotes from naturapaths that milk thistle is very helpful for the liver. Gaia herbs has a liquid version w/o alcohol, which I believe is more easily absorbed than a tablet or capsule.

[Krystinamarie]

Thank you for the link i will look into it. I have yet to hear back about my biopsy. Monday will be four weeks, I don't know if that is normal or not. As soon as I get them I will post them on this thread. How is your friend handling his/her diagnosis and is it managed?

[rpwoodard]

...the link I sent is to a page about "Living with Alpha-1"

The symptoms you mentioned are consistent with hepatic encephalopathy. I hope that's not what you have, but it's something to watch out for.

[rpwoodard]

Krystinamarie, what were the results of your liver biopsy?

A dear friend of mine was diagnosed with alpha 1 antitrypsin deficiency. Unfortunately, it took quite a while to diagnose.

Have you beent o the Alpha-1 Foundation's website? They have good information.
http://www.alpha1.org/Newly-Diagnosed/Living-with-Alpha-1/What-Now

Please let us know how you are doing.

[fntn]

The pathology report for your liver biopsy will likely contain several things. Specifically for AATD, there will likely be globular inclusions in the periportal hepatocytes. They will do several different stainings and PAS/diastase resistant globules with positive immunohistochemical should be visible. Also, the general pattern of damage will be focused in and around the portal tracks. This will lead to portal fibrosis (and eventually cirrhosis for a few) if your disease has progressed to the advanced stages. Because the portal tracks are being attacked, there may be signs of cholestasis and cholangitis present, and maybe a rare Mallory body or two.

I had read that there was some therapy activity wrt replacing enzymes in some patients. The results didn't seem to be clear cut so more studies will be started I'd imagine. And it sounds like your lungs are doing great so you're ahead in the game already. Also, seems that between 15 to 19% of adult AATD patients have liver issues severe enough to progress into advance fibrosis and cirrhosis. But it wasn't clear how fast this progression could occur.

Fortunately, if one were to be one of the AATD patients that did develop cirrhosis, liver transplant generally go very well for them vs patients with other forms of liver disease. But we should wait in your case to see what your doctors have to say once they've issued your pathology report. They'll know what stage you are in and hopefully you'll be able to fill us in to discuss. There is a thing called the MELD score that help determine how damaged your liver is, based on a few of your blood serum numbers.