Alpha1 Antitrypsin!?

[arthole]

Does anyone here have any experience / knowledge about Alpha1 Antitrypsin deficiency. I have been told mine is very low and needs to be phenotyped. Rather alarmed as it’s taken 3 years of investigation to discover this.

[Hidden]

Good afternoon arthole,

I am sure our members will be along to share their personal eperiences. i have simply included a link to the British Liver Trust information -

britishlivertrust.org.uk/in...

I hope this is useful.

You can also call the nurse led helpline on 0800 652 7330 Mon -Fri 10am-3pm

Best wishes,

Trust9

[Healthseeker]

Yes, A1AT is a substance produced in the liver which is used to protect your lungs from attack by enzymes (trypsin) produced by your antibodies. When your lungs are infected or irritated, enzymes attack the germs/irritants but will also damage your air sacs if there is insufficient A1AT to protect them. The problem is genetic with normal alleles being M and the 2 most common variants being S and Z. The standard NHS phenotype test (and the 23&me one), only tests for S and Z variants. It does not test for M or any of the over 100 other variants. The universities of Carolina and Florida have a done a lot of work in this area and have some interesting lectures on Youtube.

Depending on the variant type you have, you may get liver as well as lung damage, as if the A1AT proteins are misfolded (as with Z allele) they get to clog up your liver as well as fail to get to your lungs where they are needed. When I had the phenotype test done it came back as saying I did not have S or Z alleles which my useless consultant wrongly took to mean I must therefore have M alleles and discharged me, despite the test results specifically stating that M had not been tested for. I only know this because I requested a copy of the results from my GP - make sure you ask for a copy too.

Basically there is no cure for the condition, but in the USA you can get regular injections of donor A1AT - not available here, and possibly a risk of other blood borne problems . If your A1AT is low it is very important that you avoid any lung irritants and allergens as you will be way more susceptible to COPD at an early age. It is particularly important that you avoid smoking because as well as irritating your lungs cigarette smoke destroys A1AT leaving your airsacs to be ravaged and your ability to take up oxygen much reduced. The best outcomes are achieved by avoiding irritant exposure. If you can keep down any antibody stimulation, far less damage will be done. Medical help such as inhalers is targeted at relieving the symptoms.

A1AT deficiency has only been known about for a few decades and was thought to be quite rare. Newer research suggests that around 1 in 10 of us may have at least one variant allele but that the condition is very under diagnosed, particularly as it looks like asthma or COPD. I suggest you do your own research, as based on the research I did last year, I found that most of the medical staff I discussed it with seemed very poorly informed and would only recognise a problem if you presented with virtually zero A1AT and the lung capacity of a wheezing mouse.

I have yet to find anywhere I can get a genetic test that positively identifies your alleles beyond whether they are Z or S, so if anyone knows please pass this info onto me!

In the meantime I hope this info helps and encourage you to investigate further.

[arthole in reply to Healthseeker]

Thanks for this. A lot more in-depth than the liver specialist I went to see! She says that it predisposes you to fatty liver which seems to be utter nonsense. Research seems to suggest that the accumulation of malformed A1AT causes Hepatitis not fat accumulation!