Advice/ Questions on Alpha-1

[VixUK]

Hi, everyone. I'm new here. I was hoping to get some thoughts on Alpha-1.

I'm a 38, female, non-smoker.

My paternal grandfather was told that he is a carrier of Alpha-1 and the family should be tested. He has mild COPD.

My maternal grandfather died in his 50s of emphysema. My maternal uncle is also a carrier of Alpha-1 (apparently my mother isn't).

I currently live abroad and was able to get the blood test for Alpha-1, which showed I was low... 86 mg/dL (range 103-202mg/dL).

I've had a constant cough for a few years now. I put it down to allergies but it's gradually gotten worse. Right now it's quite irritating and I have a constant tickle and I'm producing small amounts of phlegm with each cough.

Recently on a trip to A&E I was given a CT scan of my lungs (long story...) and the attending doctor said a had a couple of tiny spots of COPD (he obviously wasn't a lung specialist, but he seemed confused because I'd told him I had never smoked). He said that what was there wouldn't be affecting me in any way. He also said the rest of the lungs were clear.

I'm waiting to see a specialist and I know without further tests I won't know anything for certain, but I'm just trying to understand whether low alpha 1 antitrypsin in the blood could cause the symptoms I'm having or if it's more complicated than that?

Can the alpha-1 level fluctuate?

Are there any other specific tests I should request when seeing the specialist?

Thanks for reading all of that - any comments welcome.

[Hidden]

Welcome VixUK

Its good you are seeing a specialist because there are specific tests to determine whether a person has Alpha 1. However it certainly sounds like you may have the genetics for Alpha 1 with several members in your family showing this diagnosis.

I don't know the procedures that would take place in the country you are currently living, however below are links to pages on Alpha 1 which are appropriate if living in the UK, I hope the information can aid to helping you with questions to ask your pending specialist consultation.

blf.org.uk/support-for-you/...

blf.org.uk/search/site/Alpha1

Best wishes

BK

[VixUK in reply to Hidden]

Thanks for your reply Bkin.

I saw the specialist yesterday and he said that simply according to my blood test results it looks like I'm deficient. However, he's never seen anyone with Alpha-1 so he's got to do some more research. I appreciated his honesty.

He's sent me for a series of lung function tests and blood analyses. We'll see what comes up.

Thanks again.

[Sincere777]

As a matter of fact it will cause that. I have Alpha 1 too. I wa diagnosed a year ago. I'm 38 years old. My family on my mom's side had the gene. 5 of them had to have transplants . Lung, liver. and or both. They also had issues with their pancreas. They all passed away due to thier bodies rejecting the transplant. My mom's side of the family was studied by Deborah Heart and Lung. It doesn't matter what lifestyle you live. It's genitics. My uncle was a police officer. He didn't drink, smoke or do drugs. He was also vegetarian.