Alpha 1 and emphysema : Just found out... - Lung Conditions C...

Lung Conditions Community Forum

55,059 members65,847 posts

Alpha 1 and emphysema

Aligaga profile image
8 Replies

Just found out I have moderate panlobular emphysema and have the alpha 1 phenotype MS and I am an ex smoker would Alpha 1 have caused this

Written by
Aligaga profile image
Aligaga
To view profiles and participate in discussions please or .
8 Replies

Depends Alpha 1 Emphysema is like slow cooker takes time to cook your beans.

MS can effect breathing did read can modify ya ms drugs if having trouble.

That’s about as much as I know

Zachary252 profile image
Zachary252 in reply to

Confused here . Zorro1 response mentions M allele and deficient S . Reading your response you refer to MS but is this Multiple Sclerosis or whatever Zorro1 is referring to .

Aligaga profile image
Aligaga in reply to Zachary252

Thanks a bit confusing the result of the blood test for alpha 1 was m allele and s deficient. My father and grandmother both died from emphysema my FEV1 was 47 and Tlco was 38 per cent just hoping there is some treatment out there to help stop progression up until now just told I had asthma due to see a consultant in April just worried as I researched and not many people live beyond 5 years

zorro1 profile image
zorro1 in reply to Aligaga

Sorry to hear about your family. Do not believe the five year thing. There are Alphas in their 70s and 80s. The only specific treatment for Alpha 1 currently is not available in the uk. Thats the replacement therapy. The nhs won't pay for it because it is massively expensive. There is reasearch happening on gene therapy. ITS being tested on patients in the usa as we speak. Gene editing to correct the mutated gene is also on the cards at some point. For more info and support contact the uk based charities alpha 1 awareness uk and alpha 1 support uk. They will send leaflets that explain all about the condition. They both have facebook groups too with lots of Alpha people. Good luck.

in reply to Zachary252

Alelle MS I’m certain. I am alelle ZZ

zorro1 profile image
zorro1

Hi Aligaga, the effects of Alpha 1 deficiency can vary very widely between individuals -though panlobular emphysema is one of the hallmarks. I also have Alpha 1 deficiency but the more severe genetic type ZZ. At the moment I do not have visible emphysema on scans but I do have reduced gas transfer levels and I am at much greater risk of developing lung and liver problems. Your phenotype means that you have one normal M allele and one slightly deficient S. If you have been a smoker this has the effect of reducing further the Alpha 1 available to protect your lungs. I believe that about 1 in 50 people in the uk carry one deficient allele usually a Z or S but will never know it or develop health problems, especially if they dont smoke and avoid environmental pollutants - this is because their normal M allele produces enough Alpha 1 to keep them safe. Hope this helps. Btw there are Alpha 1 support groups on facebook and the web that can offer advice and support.

2greys profile image
2greys in reply to zorro1

A simple and concise answer.

patmc1 profile image
patmc1

Hi---- I carry one of the mutations so I am MZ. The way my pulmonary doctor framed it -is that the smoking I did (about 18 years--quit over 22+) was around 60-70% more destructive to my lungs than a person with no mutations. So far , I believe there is some reluctance to apply alpha 1 infusions to even ZZ types unless there is adequate proof from bloodwork that there is major lack of the substance . There is a specialist in my city that "works" with carriers but I don't think it would help my emphysema /asthma.

Still I try to stay in touch with the Alpha1 foundation -and see if there ever is any research that points to infusion therapies ever helping stop the progression of COPD.

---I actually found out about the mutation from 23 and Me almost a year before I developed SOB ---at that time I kept seeing the info that unless you smoke being MZ should probably not be a problem. ---it didn't address - what about smoking in the past. !!! I now wonder--if I knew I was so vulnerable would I still have smoked????

You may also like...

Recent alpha 1 antitrypsin deficiency diagnosed

told me to get tested and I did and I have tested + for alpha 1 antitrypsin deficiency. My GP will...

Emphysema

excerises 97 I'm on strongest Trimbow inhaler any ideas would be greatly appreciated please thank...

Emphysema

did I have mild, moderate or severe copd. He said, let me google it !! Oh it's mild he said. I have...

emphysema

Would anyone be willing to tell me how they manage emphysema and how quickly it has deteriorated? I

Emphysema

I have emphysema that has got a lot worse in the last three months. I hammered my emergncy packs...