Experiences with

Alpha-mannosidosis

Does anyone know anything about Alpha-1 antitrypsin deficiency?

Hello everyone, I am based in the UK. My Dad told me to get tested and I did and I have tested + for alpha 1 antitrypsin deficiency. My GP will not do any follow up appointments as they say I am symptomatic and there for nothing else can be done. This leaves me feeling very vulnerable and uniformed.

New research results show that a new form of gene editing is efficient in correcting a mutation in patient cells with the monogenic disease Alpha-1 antitrypsin deficiency (AATD), a common inherited disease that affects the liver and the lungs. This new approach, called base editing, is different from

Greetings, fellow travelers: Received a few simple test results back today as a check in. I'm a Type 2 diabetic, with NASH (F2, S3 as diagnosed in November 2020). I also carry a mutant gene for Alpha-1 Anti-Trypsin Disorder, which complicates liver function through binding proteins. Total Cholesterol

Started my bemfola or follitropin alpha injection. Any advice? First scan on monday.

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

Hello, my liver dr ordered this test due to having slightly low oxygen saturation when I saw him. My chart doesn’t say much except my value is MS and I have no idea what that means. A google search suggests MS is not at and increased risk for liver disease but then another category said I’m SS meaning

Hey, hope you're well! I was just wondering if anyone knew whether the vapour from vaping is bad for someone with alpha-1-antitrypsin deficiency (AATD)? Can the chemicals produced by vaping trigger emphysema? Thanks :D

Hi All, I'm new to this, both in terms of the site and COPD. I've (due to COVID-19 outbreak) got a 'working diagnosis' of COPD, I'm unable to have a Spirometry done at the moment to confirm the diagnosis. Both the GP and my nurse have agreed it is a case of purely establishing what stage I am at, rather

I've always had a certain amount of shortness of breath; I was never good at cross-country or sports at school and I remember being given a Ventolin inhaler on the off-chance that I had mild asthma. I also remember that it made no difference. I've been fairly active in my adult life, doing a fair bit

[u]Doctors try 1st CRISPR editing in the body for blindness.[/u] Scientists say they have used the gene editing tool CRISPR inside someone’s body for the first time, a new frontier for efforts to operate on DNA, the chemical code of life, to treat diseases. A patient recently had it done at the

For the first time, researchers describe the genetic program behind primordial lung progenitors—embryonic cells that give rise to all the cells that form the lining of the respiratory system after birth. They believe this study has long-term implications for the treatment of diseases affecting the respiratory

Hi everyone, We’re reviewing our health information and would love to hear your thoughts! If you have/had had any experience of these conditions (either you’ve had it yourself, or care for someone who has) please help us by reading through the information and completing this form: https://hello.blf.org.uk

Hi Everyone, I was recently diagnosed with "early stage cirrhosis secondary to Non-alcoholic fatty liver disease" and today I had an endoscopy which showed several (non-bleeding) varices. I was chatting to my brother this afternoon about my diagnosis and tests and he just happened to say "do you remember

Hi- can anyone help? My GP recently requested a blood test for alpha-1 antitrypsin due to some wheezing I have, and a strong family history of COPD. The blood test that was carried out was Serum protein electrophoresis, which came back normal. I asked the GP if A1AT is included in that and she said yes

I had blood tests a few weeks ago to test for the Alpha-1 antitrypsin deficiency and they came back as abnormal for some reason. So i had to go for another blood test and have been quite on edge waiting for results till today, wondering what the " abnormality" may be. Thoughts can go from one extreme

Hello I have been diagnosed with emphysema and maybe asthma also, I’m 32 years old and currently struggling with the concept, they think I have alpha 1 antitrypsin deficiency but I haven’t had the test results back from this yet. Is there anyone else with emphysema at a young age? I’ve smoked for

I recently had a blood test for Alpha-1-Antitrypsin and was wondering about the accuracy of the test, because I was reading that levels can be elevated during an infection. When I had the blood test done I was in about day 4 of a sinus infection that later went to my chest. My test result was as follows

Hello, new to here. Just found out I have Alpha 1. Been unwell for about 18 mths and GP's just kept telling me I was ok. Did my own research and knew that my dad had it - just didn't know of the lung side of the disease. My dad died of COPD and his mum pancreatic cancer (also had pernicious anaemia.

Hi, Can someone explain these results? Thank you in advance. Liver (random biopsies): - The specimen is composed of cores of liver parenchyma showing changes of mild steatosis. - Trichrome and reticulin stains showed changes of mild periportal fibrosis, stage 1/4. - Minimal periportal activity is noted