Anyone with an Alpha-1 Antitrypsin Deficiency child with liver problems?

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My daughter was diagnosed with alpha-1 because of a fatty liver a couple years ago. She is about to turn 5 y/o. I can't find anyone else in my town with a child with it since it's usually diagnosed at age 30's or 40's because of the lung complications. BTW she also has cystic fibrosis. Anyone else with little children with Alpha-1?
I am an adult with Alpha-1. There are several really good organizations you shoud contact. One is actually for Alpha-1 kids. They are listed below.
Alpha-1 Kids - www.alpha1kids.org

Alpha-1 Foundation - www.alphaone.org

Alpha-1 Association - www.alpha1.org
The Alpha-1 Association can provide you with a genetic counselor free of charge.

There is also an online support group for liver affected Alpha's. Several on there are parents of children who have had transplants. Very knowledgable bunch of people that would be glad to answer your questions and just be there for support and friendship. They are really a nice group.
You can find them at:
home.ease.lsoft.com
Choose - Browse online archives
Scroll down and choose Alpha-1Liver
There is a box on the right hand side where you can subscribe to the list.
If you need help let me know and I can get someone to help you get signed up.
My email is [email protected]
Hope this helps. I know it can be scary.
Neva Maynor
WV Alpha-1 Support Group Leader
  (+ info)

What are the characterists of Alpha-1 Antitrypsin Deficiency?

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I'm doing this as a school project! It would mean A LOT!
Trypsin is an enzyme that helps clean the surface of the alveolar septum. If it's uncontrolled then it will continue to erode the alveolar septum eventually causing the loss of the septum. This results in the alveoli becoming confluent or more balloon shaped as opposed to their normal grape like structure.
What stops this enzymatic activity, or at least keeps it in check is the alpha -1 antitrypsin. When this antitrypsin is missing the trypsin causes a type of emphysema called panlobular. This is different from the usual emphysema which is a result of years of chronic bronchitis. This type is called centrilobular emphysema.
The first type, the alpha-1 antitrypsin one is commonly known as type A.
The centrilobular type is type B.
There is a third type called type C which is a mix of the two.
There is a nickname for the type A emphysemics- pink puffers.
The type B are called blue bloaters.
Type C doesn't have a nickname.
So the causative mechanism is different in the two types of emphysema. The symptoms are different hence the two nicknames.
The pink puffers don't usually retain CO2 like the blue bloaters do.They are more apt to hyperventilate causing them to have rosey cheeks, hence the nickname.
Blue bloaters have a tendency to have been smokers and have a higher incidence of heart disease which results in congestive heart failure and cyanosis, hence blue bloater.
Hope this at least gets you started.  (+ info)

Does anyone have or know someone with Alpha 1 Antitrypsin Deficiency?

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My father was diagnosed. And now I need to have my sons and myself tested. I wanted info or stories from others.

I am interested in only seriouse replys please.
Well, lets see if i can help you out.. Im a respiratory therapist.. and lucky you, i just happen to be at work :)

A1AD is a disease that is what is commonly grouped with COPD or Emphasema.. But where most of your COPD and Emphasema patients have a long history of smoking, Alpha 1 patients may have never picked up a cigarette ever....

(Im going to try my best to put this in laymens terms for ya).. Think of your lungs as a tree.. you have the trunk of the tree (the trachea), then the main branches of the tree (your left and right main stem bronchus), somewhat smaller branches steming from those (bronchi), even smaller branches (brochioles) until you finally get to the airsacks (aveoli) at the very end of these branches (think of these as the leaves of the trees).. These aveoli is where oxygen exchange takes place.. When you take a breath in, the oxygen in the air gets to those aveoli, and is exchanged with the Carbon Dioxide in our blood (waste product of breathing).. Now, what happens - when you suffer from A1AD, which is hereditary, the serum level of alpha-1 - antitrypsin in the blood is low, which causes changes in the structure of those aveoli, which in a respiratory sense, causes a malfunction in exchanging oxygen into the blood stream.. Theres a thickening of the walls of the lungs, and when you breathe in, a good portion of the air yout ake into your lungs just kinda sits there and isnt exchanged at all... It makes a dead space in your lungs...(It also can cause sirrosis of the liver, btw).. Now, heres the good news.. If you get tested, and lets say it comes out positive for Alpha 1, it can be treated (but not cured) before ANY symptoms show up.. Its also important your children get tested because even if they do not have the disease, they could carry it and give it to their children later..

I hope this kinda helps.. :)  (+ info)

Dose Alpha-1 Antitrypsin Deficiency couse Emphysema ?? and why it causing it ??

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what is the link btwn the Alpha-1 Antitrypsin Deficiency and the Emphysema ??
Emphysema is a disease that involves damage to the air sacs (alveoli) in the lungs. The air sacs are unable to completely deflate, and are therefore unable to fill with fresh air to ensure adequate oxygen supply to the body. Alpha-1 Antitrypsin is a naturally occurring substance in the lungs that defends against emphysema. If a person has Alpha-1 Antitrypsin Deficiency, then they do not have the benefit of this defense mechanism and they can develop emphysema. As the previous responder stated, this is a genetic disorder. Most people who suffer from this deficiency develop lung disease somewhere between the ages of 20 and 50. Hope this helps answer your question.  (+ info)

Life insurance for Alpha 1-antitrypsin deficiency?

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Doctors didn't give my husband past the age of 2 to live because of his Alpha 1-antitrypsin deficiency, but he's doing just fine today at age 28 without any side effects or health problems (except maybe a few pounds of pregnancy sympathy weight!). God willing he'll have a long and healthy life, but just in case complications do set in in the future, I'd like to have some kind of life insurance to safeguard our family with. However, I'm having a difficult time finding a life insurance provider who won't throw away the application as soon as they get to A1AD part. Can anyone give me some advice or recommend a provider (preferably in the U.S.)?
lifeinsurance.awardspace.info - try this one. I have their insurance and, as remember, they can provide such a service.  (+ info)

Does anyone else have alpha 1-antitrypsin deficiency disorder?

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Im in my mid 30s and was diagnosed recently with alpha 1-antitrypsin deficiency after having been diagnosed with emphyscema & emphysemic cysts. Im in good shape anyways but I stepped up my cardio. My question is.. is there someone else out there in yahoo! answer land that has this disorder? (its very rare, I know) What have you done to help alleviate the discomfort and do you have any preventative tips (other than wearing a mask when doing housework & such) to help keep my lungs from deteriorating? (I dont smoke btw)
thanks
there is limited info via webmd and drs as this is a rare disorder. i would like to know how others are living with it
catgina its a genetic disorder... there is no recovery and no cure. If you had it you will always have it
I have Alph-1. I am also in my mid 30's. I've known I 've had Alpha-1 for about 14 years, but I've had more symptomatic problems in the past 6+ months. Unlike you, I have problems with my liver.
Even though I have known for a long time...I never thought I would have these problems. So, I feel like I'm newly diagnosed. Trying to find info. about Alpha-1 can be very frustrating.
As far as I can gleam from the info I have come across, what you are doing is the right thing. Keep in touch with your Doc on a regular basis and contiue to live a healthy life.
I wish I knew more....if anyone does please let us know?
I wish you the best!!  (+ info)

Does anyone else have alpha 1-antitrypsin deficiency?

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Im in my mid 30s and was diagnosed recently with alpha 1-antitrypsin after having been diagnosed with emphyscema & emphysemic cysts. Im in good shape anyways but I stepped up my cardio. My question is.. is there someone else out there in yahoo! answer land that has this disorder? (its very rare, I know) What have you done to help alleviate the discomfort and do you have any preventative tips (other than wearing a mask when doing housework & such) to help keep my lungs from deteriorating? (I dont smoke btw)
thanks
I know what it is... Id like to know how others with the disorder make their own lives more comfortable living with it . Thanks!
α1-Antitrypsin deficiency is congenital lack of a primary lung antiprotease, α1-antitrypsin, which leads to increased protease-mediated tissue destruction and emphysema in adults. Hepatic accumulation of abnormal α1-antitrypsin can cause liver disease in both children and adults. Serum α1-antitrypsin level < 11 μmol/L (< 80 mg/dL) confirms the diagnosis. Treatment is smoking cessation, bronchodilators, early treatment of infection, and, in selected cases, α1-antitrypsin replacement. Severe liver disease may require transplantation. Prognosis is related mainly to degree of lung impairment.
Please note that I am not a medical professional.
Please see the web pages for more details on Alpha-1 antitrypsin deficiency.  (+ info)

Alpha 1 Antitrypsin Deficiency?

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Are there any Alpha's out there?
yes I am Alpha 1, I see by the reply's you have gotten we need to educate some people  (+ info)

Is Alpha-1 antitrypsin deficiency dominantly, recessively, or codominantly?

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it's for an assignment i have to do. i got mostly everything except this question.
THANK YOU FOR YOUR GENEROSITY!!!!!
XOXOXO
It is a dominant gene  (+ info)

Is it useless to order a fecal Alpha 1 antitrypsin and NOT an BLOOD Alpha 1 antitrypsin ?

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If the child has chronic diarrhea for 3 year and an al fecal is ordered, doesn't it make sense to order an A1 blood test too, just in case an A1 deficiency IS the problem, in a child with COPD?

IF a person is A1 deficient, wouldn't that warrant a low A1 fecal, even if the child IS loosing other proteins?
Actually, yes. Severe alpha-1 antitrypsin deficiency is diagnosed by an a-1 antitrypsin level below 50-80 mg/dL, as well as a genetic test for the type of deficiency (there are over 100 variations of this gene!).
This child should see a geneticist for a more thorough evaluation.  (+ info)

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