Saturday, July 28, 2007

Alpha-1 Antitrypsin Deficiency & the Human Genome

I found a really great summation of Alpha-1 Antitrypsin Deficiency on the Human Genome web site. Enjoy the reading.


Anonymous said...

I was diagnosed with the SZ phenotype of Alpha One. I am 55 and have been very healthy all my life. Within the past year I have developed pneumonia and have been on 7 rounds of antibiotics to no avail.

In addition, I have some dull, aching pain under my right rib that gets worse as the day goes on. Dr. suspects ulcer but meds (antacids) don't work.

Does anyone have the same problem with the pain under the rib. Liver labs come out normal.


Jen said...


Thanks for visiting my blog. Sorry to hear about your pneumonia. I'm not sure what kind of lung function you have, but have you considered augmentation therapy? I believe that you need to have the equivalent of less than 50% lung function to qualify for that therapy though. In any case, keep your pulmonologist on it. Taking care of your lungs is vital to your quality of life.

As for the dull, aching pain under your right rib...hmmmm. Without abnormal liver labs, I'd suspect gall bladder disease. At least, that is what caused my pain under my ribs. Otherwise, I'm scratching my head and saying "hmmm?"

I have heard of other Alphas who do present with some pain under their ribs, too. I'd advise you to check out the ALPHA-LIVER email list serve. Send an email with a brief introduction to:

A moderator will approve your membership.

Best of luck to you.


Anonymous said...


Thanks for your input. I have had a HidaScan done of the gall bladder plus ultrasounds and blood work but they all come up fine. So far haven't been able to figure it out. Just gets worse as the day goes on. Like a blow torch going thru my mid ribs by night fall.

I'm going to the Univ. of Fl to talk to one of their experts hopefully in Aug.

What a process of going through all the appts. and stuff.

Thanks again.

Anonymous said...

I am a 36 year old female and have recently been diagnosed with Alpha One deficiency. I also have rib pain. Often, it feels like it is in the front and back on my rib cage. My gall bladder and appendex have both been removed. I have taken all sorts of pain meds and nothing gives me relief.