Alpha 1 and emphysema

[Aligaga]

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

[Hidden]

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 in reply to Hidden]

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 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 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.

[Hidden in reply to Zachary252]

Alelle MS I’m certain. I am alelle ZZ

[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 in reply to zorro1]

A simple and concise answer.

[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????