Alpha-1 Antitrypsin Deficiency - Not A Rare Disease, But Rarely Diagnosed

Imagine-- a rare disease that’s rarely diagnosed-- because it mimics so many other diseases.
We’re talking about Alpha-1 Anti-TRIP-sin Deficiency - or AAT - a hereditary condition that may cause lung disease and liver disease. Dr. Kyle Hogarth, a Pulmonologist, at the University of Chicago and an expert in pulmonary diseases, joins us to discussAlpha-1 Anti-trip-sin Deficiency. It puts you at a higher risk for developing lung diseases, such as emphysema, as well as liver disease. It’s often linked with those conditions. But it’s a genetic condition- passed from parents to their children.Who’s at risk of getting this condition? What tests determine if you have it? And what lifestyle changes can help patients cope with this disease? We have lots of insight.
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[@StephanieLeigh83]

I was diagnosed after the gallbladder surgery. My surgeon (a brilliant man) noticed during a very routine gallbladder surgery that my liver was severely enlarged. He took a biopsy, took some labs and I was diagnosed. Years of asthma, bronchitis, pneumonia, constantly coughing finally explained because he took the time to investigate. I’m grateful I now have a proper diagnosis.

[@vitorbarradas7430]

And whats your treatment

[@rickdaystar477]

I wonder how many people suffer needlessly because doctors miss this rare ailment.

[@ChilupaKing]

Military tried telling me I was just being too lazy and I need to work out more. I DID, and my breathing got worse when I did. I dont want to trust on the government or the healthcare system anymore...they have put me through enough 😑

[@iPhone-eb9cz]

I really want to be tested for this. My lungs HURT when I encounter even the SLIGHTEST bit of pollution, contamination or smoke. My alveoli seize up. And it feels like I’m inhaling shards of glass and powdered soot. I’ve never smoked anything in my life and I am really diligent in how I care for my body. I’ve always been super susceptible to anything harming my lungs and respiratory tract. I wish they would track down people like me and have our genetics thoroughly tested, examined and scrutinized to identify these genetic markers and any additional genetic markers that are as of yet unknown. :(

[@biancajade728]

Recently my liver bloodwork was coming up high and there was no reason why since don't drink or smoke not overweight my primary dr ordered Alpha1 test and have it. Also have PBC & PSC BUT luckily my drs were not wait & see they worked hard over a year & half of tests & scans biopsy to find the reason.I am early stage, but sadly I have the symptoms so tired and in pain (from PBC) & with our CALI fires I need to do tests again for Alpha level especially as I am short of breath & getting migraines now but that could also be anemia. My body doesn't absorb iron I need to get infusions and transfusions.

[@harpertracey5532]

I wasn't diagnosed until last year 2020 and I'm 48 years old I have been suffering and trying to get answers for years and years and although I was tested and proved to have it last year after everything else came up negative I have yet to be treated for it or have any doctor tell me anything about it these are the First videos I'm finding on it so thank you so much

[@aleksandrabessmertnaia3545]

Моему ребёнку всего 9 лет! У него дифицит альфа-1-антитрипсин, сдавали кровь и кал. У него ХОБЛ и эмфизема в 10 сегменте лёгкого. Страдает весь организм. Сейчас сдали на генетику и ждём результатов. Он очень общительный. Странно, что в мире много таких людей, но заболевание очень редкое и мы пришли к этому заболению долгие девять лет. Всем желаем здоровья!!!

[@conniewaterman1673]

Thank you.❤

[@aleksandrabessmertnaia3545]

Знаете если вы хотите добиться правды в здоровье надо сдавать генетика и лучше полный геном, так как у нас нашли по генетика потагенную частную мутацию ZM. И вы знаете, думаю науке надо развиваться потому что фенотип ZM сложнее, чем ZZ. Просто ZM это 100% уничтожение лёгких. А ZZ это уничтожение печени. Геном жизни раскрыл полностью генетика сына, там и врожденный дискератоз 2 типа и иммунодефицит в-клетки в доминантном состоянии. Сейчас мы сдаём на секвенирование по трио, чтоб понять все у сына заболевания как лечить.... Да доктора всей планеты, я мама лечу двоих сыновей с дефицит альфа-1-антитрипсином бронхолитики не помогают им нужен белок альфа1, но к сожалению детям нельзя, но Вам дорогие доктора надо придумать с детства вводить этот белок, чтоб лёгкие детей не разрушались, а сохранялись до периода взросления. Бронхолитики не избавляет от этой болезни. Спасибо за понимание. И больших успехов в новых лекарственных препаратах для таких больных🙏🕊️

[@huwwilliams1180]

I have alpha 1 in the liver had a transplant as a baby and am healthy but are concerned about my lungs

[@carissalewis749]

I’m glad that he doesn’t have as many complications as my mom did. She had to wear oxygen and could barely even walk slowly without getting extremely winded. Every Aloha 1 patient is so different and unique. My mom has since passed away and my heart is broken. I look forward to the day I see her again. Until then I will live my life according to Gods word and I know she is so proud. She is no longer suffering and struggling for air.

[@sanketdoshi4130]

Alpha-1 is not the things to shuts off all that destructive force, It just can balance and control the destroying ezymes numbers ,so that only protecting the lungs instead of letting enzymes destroy the alveoli.

[@theredqueen2283]

I am a Scandinavian descendant and carry this mutation, it is known as a viking mutation from parasites , I wonder if there is a risk to covid if you have this

[@katiebusekist6973]

Can you just have one copy and have alpha 1 ?

[@dangersquad8076]

Nice video

[@TheBalancingActTV]

Thank you! We hope it was helpful and informative.

[@tmross4]

So I have Intrinsic Asthma. Had status asthmatica before I was diagnosed with IA. Now I have COPD. I've never smoked. I have Non-alcoholic fatty liver disease. I did the 23&Me for Health, and it came back that I was a carrier. I did a test (I think with the University of Florida) - they were looking at the relationship between asthma and AAT. I came back as a carrier. The gene is P*S. Are there other genes that can cause AAT besides the "S" and "Z"?

[@siouxzqz1]

23andMe also made my diagnosis. Years of going to a pulmonologist and was never tested. I had suggested it to him years ago but he said it wouldn't be that, that's really rare. Even had a cardiologist tell me, "I don't think there's anything wrong with your lungs, you're just out of condition." If I didn't happen to buy the 23andMe/health kit I still wouldn't know. All pulmonologists should test for this as standard practice.

[@Reneebenson]

I was tested for this yesterday I have had asma sense I was a kid, my asma is alright but blowing out air of .my mouth is mildly constructed. My brother a year and half ago died from copd and he had something wrong with his liver

[@TheBalancingActTV]

We're so sorry for your loss! Thank you for sharing. ❤️

[@ngocvo4099]

Very good and funny videos bring a great sense of entertainment!

[@iPhone-eb9cz]

*Someone PLEASE **5:19** help me, I’m DESPERATE- tell me where I can get this free test!!* Doctors I’ve been to WONT LISTEN and wont order this test bc they think and insist that you have to be a smoker and fit a certain profile to come down with these lung deficiencies and diseases. I’m sick of this. I cough constantly and I can’t effing breathe most of the time. It affects my sleep which in turn affects every system of my body and every aspect of my health. :(

[@FirstTimeGrow]

You doctor can easly request a simple blood test for this , it's not that hard set a doctor's appointment tell your doctor you want a blood test for alpha 1 antitrypsin, and that's it that simple. I woke up in the er room amd told I had this as I was struggling to breathe. Hopefully you don't have this problem

[@iPhone-eb9cz]

@@FirstTimeGrow ok ty

[@patriciawalker769]

Did you get tested? I found where they will send you a test on line, you send it back , then get the results. Then you have something to show your doctor to get more help.

[@jenniferebube5613]

Wow 👍🏼

[@lolacombs2256]

I have alpha 1

[@tblightningbolt8902]

congrats

[@mdpocoroba]

@@tblightningbolt8902 you're an idiot. Congrats.

[@brandjes3500]

my dad has alpha 1

[@lindaarmstrong8736]

the brandjes gamer do inhalers help.

[@lindaarmstrong8736]

Does any treatment regenerate healthy lung tissue.

[@LouHart54]

No - the only two choices I've been exposed to are 1) Having a weekly injection of a synthetic replacement of the proteins that your liver is not producing (I'm doing this with a product called "Prolastin"), which will only stop or reduce the damage to the remaining lung tissue; or 2) some level of organ transplant, which is normally used as a "last resort"-type approach due to life expectancy issues around transplantations in general.

[@ElmoKnowsWhereYouLive5150]

Michael Jackson

[@hinote4261]

moonwalker 9705 yeah