Alpha-1 antitrypsin deficiency advice needed.

March 16, 2007 7:12 PM

MediFilter: Can any of you provide any information for care, quality of life enhancements, treatment or any other useful information about alpha-1 antitrypsin deficiency.

I'm asking this because one of my extended family members has this disease, and has apparently been worsening lately. I need any suggestions on how best we can help him, now and in the future.

At the current time, he's physically active, but gets breathless easily, although I don't believe there's a need for supplemental oxygen. In part, I seek the opinion of the medically informed regarding any new treatments, or other aspects that might be pertinent from your perspective. Primarily to make sure we aren't missing any relevant knowledge from over the pond, or to hear experiences from others.

posted by BishopsLoveScifi to health (4 comments total)

a google search shows this:

http://www.nlm.nih.gov/medlineplus/ency/article/000120.htm

this is a pretty specific disease... so you won't find too many people with it or with knowledge about it. i'd recommend getting information from trusted web sources and pubmed.
posted by ruwan at 7:27 AM on March 17, 2007

eMedicine is a reliable and well-respected source of information. They have an article on this condition. You will need a login to view the page, but sign-ups are free.
posted by NucleophilicAttack at 7:52 AM on March 17, 2007

I searched MedlinePlus and found the Alpha-1 Foundation, which appears to be a group dedicated to this condition. Their website includes a number of free publications and a list of health tips for patients. Here is a 2005 article on the organization's success and its research efforts.

Also for patients/caregivers:

- List of relevant clinical trials that are seeking subjects, in case you are interested
- American Lung Association page on Alpha-1-related emphysema

The scientific journal Thorax published a series of articles on this condition in its August 2004 issue. It's probably more information, and more clinical, than you're looking for, but I thought it was worth passing along -- you might especially be interested in #6. [links to free full text]

1. Epidemiology of {alpha}1-antitrypsin deficiency
2. Genetic aspects of {alpha}1-antitrypsin deficiency: phenotypes and genetic modifiers of emphysema risk
3. Clinical manifestations and natural history
4. Molecular pathophysiology
5. Intravenous augmentation therapy: current understanding
6. New and emerging treatments for {alpha}1-antitrypsin deficiency
7. Computed tomographic imaging in {alpha}1-antitrypsin deficiency

And finally, from the journal Respiratory Care, a 2003 article, "Key Current Clinical Issues in Alpha-1 Antitrypsin Deficiency". [link to PDF]
posted by Siobhan at 4:33 PM on March 17, 2007 [1 favorite]

Thanks Mefites :) Sorry I took so long to respond BTW, internet connection died :(
posted by BishopsLoveScifi at 3:52 PM on March 20, 2007