Re: alpha-1 antitrypsin (AAT) deficiency & Asthma

[Guest guest]

About two years ago when I was first sent to a pulmonologist, she was so shocked

by the condition of my lungs (pft tests results) and yet so surprised at the

active lifestyle I led, that she suggested I have the Alpha I antitrypsin test

done. It takes about two to three weeks to get the result because the test was

sent to a lab in Utah! At any rate, I am a carrier but I do not have the " gene "

or whatever. It is a genetic disorder. I have two children both of whom have

very mild asthma. Our son has had mild asthma since he was about 18 months and

he is now 36 and it has never gotten any worse--nor has it completely gone away.

Because there have been no other symptoms there is no reason to believe that

they have the disorder.

When I did my reading on the disorder, it seems that most of the time the

other symptoms will show up early in a child's life. The disorder can affect

other organs of the body besides the lungs. I have a friend who has two

children who both have the disorder and presently the only sign is in the blood

work that they have done. There is a medical therapy for the disorder, but my

pulmonologist told me that its effectiveness has not been totally proven yet.

By the way my friend does have moderate to severe allergies, but I don't think

she has asthma.

If I were you I wouldn't hesitate to ask my pulmonologist about the test. See

if your insurance will pay for it as I think it is rather expensive. Just

having it done and knowing the result gave me some peace of mind and that was

worth something.

Yea for the xolair------it has really helped.

Adah

instdesgn1 <instdesgn1@...> wrote:

Hi Everyone,

Recently an article online caught my attention about something called

alpha-1 antitrypsin (AAT) deficiency. It was recommended that patients

with moderate to severe asthma receive testing for this condition.

This might be of particular help to those who do not find complete

relief/control from current treatments. This is the first time I've

ever heard of this - wanted to share and find out if anyone else was

familiar with the condition and treatment.

The article states: " When a person with deficient levels of AAT inhales

irritants or contracts a lung infection, the neutrophil elastase

released to protect the lungs is uncontrolled and can injure healthy

lung tissue. "

I want to ask my doc to run the test but am not quite sure about it.

http://www.medicalnewstoday.com/articles/88814.php

<http://www.medicalnewstoday.com/articles/88814.php>

[Guest guest]

Thanks so very much Adah. It was helpful to hear from someone who

knows about this disorder. Sometimes I feel like I'm sitting in the

wilderness by myself (!!!) <grin>

If I may, would you mind telling me how the test is run? i.e., I

assume it's a blood test? Just routine " out-of-the-arm " type? Is

there any preparation? Was there any counseling?

I'm so glad you suggested asking my pulmo ... think I will now. Just

feel a litle shy about it!

Again, much appreciation.

>

> Hi Everyone,

>

> Recently an article online caught my attention about something

called

> alpha-1 antitrypsin (AAT) deficiency. It was recommended that

patients

> with moderate to severe asthma receive testing for this condition.

> This might be of particular help to those who do not find complete

> relief/control from current treatments. This is the first time I've

> ever heard of this - wanted to share and find out if anyone else was

> familiar with the condition and treatment.

>

> The article states: " When a person with deficient levels of AAT

inhales

> irritants or contracts a lung infection, the neutrophil elastase

> released to protect the lungs is uncontrolled and can injure healthy

> lung tissue. "

>

> I want to ask my doc to run the test but am not quite sure about it.

>

> http://www.medicalnewstoday.com/articles/88814.php

> <http://www.medicalnewstoday.com/articles/88814.php>

>

>

[Guest guest]

The finger is pricked and blood droplets are collected on three separate sheets

(very small), mailed to the lab in Utah and that is it! I thought it would be a

big deal, too, and that was it--just a finger prick. At least that is the way

they collected my blood for the test. I will say again, for me it was peace of

mind that I did not have the disorder.

There is a lot of information on the Internet about this disorder and your

doctor should be able to give you even more information if you still have some

questions.

Best wishes to you.....let us know how the test turns out.

Adah

instdesgn1 <instdesgn1@...> wrote:

Thanks so very much Adah. It was helpful to hear from someone who

knows about this disorder. Sometimes I feel like I'm sitting in the

wilderness by myself (!!!) <grin>

If I may, would you mind telling me how the test is run? i.e., I

assume it's a blood test? Just routine " out-of-the-arm " type? Is

there any preparation? Was there any counseling?

I'm so glad you suggested asking my pulmo ... think I will now. Just

feel a litle shy about it!

Again, much appreciation.

>

> Hi Everyone,

>

> Recently an article online caught my attention about something

called

> alpha-1 antitrypsin (AAT) deficiency. It was recommended that

patients

> with moderate to severe asthma receive testing for this condition.

> This might be of particular help to those who do not find complete

> relief/control from current treatments. This is the first time I've

> ever heard of this - wanted to share and find out if anyone else was

> familiar with the condition and treatment.

>

> The article states: " When a person with deficient levels of AAT

inhales

> irritants or contracts a lung infection, the neutrophil elastase

> released to protect the lungs is uncontrolled and can injure healthy

> lung tissue. "

>

> I want to ask my doc to run the test but am not quite sure about it.

>

> http://www.medicalnewstoday.com/articles/88814.php

> <http://www.medicalnewstoday.com/articles/88814.php>

>

>

[Guest guest]

I also meant to add that my pulmo did talk to me some about the disorder and

what could be done to at least slow down the consequences of the disorder.

Other than that, I suspect more counseling would have been forthcoming had the

test returned positive. There is no unusual preparation for it. I don't even

think I had to fast since this is a different type of test run on the blood

samples.

Adah

instdesgn1 <instdesgn1@...> wrote:

Thanks so very much Adah. It was helpful to hear from someone who

knows about this disorder. Sometimes I feel like I'm sitting in the

wilderness by myself (!!!) <grin>

If I may, would you mind telling me how the test is run? i.e., I

assume it's a blood test? Just routine " out-of-the-arm " type? Is

there any preparation? Was there any counseling?

I'm so glad you suggested asking my pulmo ... think I will now. Just

feel a litle shy about it!

Again, much appreciation.

>

> Hi Everyone,

>

> Recently an article online caught my attention about something

called

> alpha-1 antitrypsin (AAT) deficiency. It was recommended that

patients

> with moderate to severe asthma receive testing for this condition.

> This might be of particular help to those who do not find complete

> relief/control from current treatments. This is the first time I've

> ever heard of this - wanted to share and find out if anyone else was

> familiar with the condition and treatment.

>

> The article states: " When a person with deficient levels of AAT

inhales

> irritants or contracts a lung infection, the neutrophil elastase

> released to protect the lungs is uncontrolled and can injure healthy

> lung tissue. "

>

> I want to ask my doc to run the test but am not quite sure about it.

>

> http://www.medicalnewstoday.com/articles/88814.php

> <http://www.medicalnewstoday.com/articles/88814.php>

>

>

[Guest guest]

Thanks, Adah. Heard back from my pulmo today - she said I do not

have it. Not sure why - don't think the test was ever run or maybe

it was and I don't remember it - but perhaps there are other signs

that go with it. The good part - at least I don't have that disease

to worry about!

> >

> > Hi Everyone,

> >

> > Recently an article online caught my attention about something

> called

> > alpha-1 antitrypsin (AAT) deficiency. It was recommended that

> patients

> > with moderate to severe asthma receive testing for this

condition.

> > This might be of particular help to those who do not find complete

> > relief/control from current treatments. This is the first time

I've

> > ever heard of this - wanted to share and find out if anyone else

was

> > familiar with the condition and treatment.

> >

> > The article states: " When a person with deficient levels of AAT

> inhales

> > irritants or contracts a lung infection, the neutrophil elastase

> > released to protect the lungs is uncontrolled and can injure

healthy

> > lung tissue. "

> >

> > I want to ask my doc to run the test but am not quite sure about

it.

> >

> > http://www.medicalnewstoday.com/articles/88814.php

> > <http://www.medicalnewstoday.com/articles/88814.php>

> >

> >

[Guest guest]

There are other signs and I don't remember what they are without looking back at

my notes. If you have gone to this pulmo for a long time then she would know

whether or not you have other clues/symptoms. When I went to my pulmo a year

and a half ago, it was the first time I had seen her as all of my years with

asthma I had been under the care of an allergist. She was trying to figure out

why my lungs were so bad when I had never smoked, nor lived with a smoker or

been around much smoke except at work from time to time before the days of

smoking bans in buildings. Because she had not been involved in my long term

care, I think she may have been ruling out other causes for the lung damage. As

I recall reading about the disorder, I believe some of the symptoms show up

rather early in a person's life. But I also think this is a rather recent

discovery. So I would trust your pulmo, but I would still read up on it just to

learn about it.

Thanks for letting us know.

Adah

instdesgn1 <instdesgn1@...> wrote:

Thanks, Adah. Heard back from my pulmo today - she said I do not

have it. Not sure why - don't think the test was ever run or maybe

it was and I don't remember it - but perhaps there are other signs

that go with it. The good part - at least I don't have that disease

to worry about!

> >

> > Hi Everyone,

> >

> > Recently an article online caught my attention about something

> called

> > alpha-1 antitrypsin (AAT) deficiency. It was recommended that

> patients

> > with moderate to severe asthma receive testing for this

condition.

> > This might be of particular help to those who do not find complete

> > relief/control from current treatments. This is the first time

I've

> > ever heard of this - wanted to share and find out if anyone else

was

> > familiar with the condition and treatment.

> >

> > The article states: " When a person with deficient levels of AAT

> inhales

> > irritants or contracts a lung infection, the neutrophil elastase

> > released to protect the lungs is uncontrolled and can injure

healthy

> > lung tissue. "

> >

> > I want to ask my doc to run the test but am not quite sure about

it.

> >

> > http://www.medicalnewstoday.com/articles/88814.php

> > <http://www.medicalnewstoday.com/articles/88814.php>

> >

> >

[Guest guest]

Adah

Ive been reading your posts and I just want some understanding on

Alpha-1, so people who are diagnosed with Alpha-1 do they also have

asthma as a disease also or is it just the one diagnosis of Alpha-1, I

only ask this as daughter had a Bronchoscope last Thursday and it showed

holes in the lining of her lungs and brittle lung lining and her pulmo

said they were unusual but anything is possible as she has brittle

asthma and I was wondering now whether the holes in the lungs are

connected to Alpha-1

Simone

> > >

> > > Hi Everyone,

> > >

> > > Recently an article online caught my attention about something

> > called

> > > alpha-1 antitrypsin (AAT) deficiency. It was recommended that

> > patients

> > > with moderate to severe asthma receive testing for this

> condition.

> > > This might be of particular help to those who do not find complete

> > > relief/control from current treatments. This is the first time

> I've

> > > ever heard of this - wanted to share and find out if anyone else

> was

> > > familiar with the condition and treatment.

> > >

> > > The article states: " When a person with deficient levels of AAT

> > inhales

> > > irritants or contracts a lung infection, the neutrophil elastase

> > > released to protect the lungs is uncontrolled and can injure

> healthy

> > > lung tissue. "

> > >

> > > I want to ask my doc to run the test but am not quite sure about

> it.

> > >

> > > http://www.medicalnewstoday.com/articles/88814.php

> > > <http://www.medicalnewstoday.com/articles/88814.php>

> > >

> > >

[Guest guest]

I am sorry I don't know the answer to that question. I had extremely mild

asthma--maybe an episode every other year or so until I was 48 years old. I

think my pulmo was trying to find answers as to why my lung function was so low

and my lungs so damaged. For me, the asthma was the reason she suggested the

Alpha I test. For my friend whose two children have the disorder, her little

boy was ill and when the blood work was done on him it indicated something wrong

with his liver, and after exhausting all of the other possibilities, the whole

family had the test done. The daughter who also has the disorder has shown no

symptoms that are evident. The entire family does have allergies--I don't fully

understand how that is connected, and I am NOT a medical person. Someone who

knows more about this would be the one to answer your questions. You might also

find some answers if you go to the net and look up Alpha I Antitrypsin. I

probably know just enough to be dangerous (as

the saying goes.)

Adah

Simone <miss.sam@...> wrote:

Adah

Ive been reading your posts and I just want some understanding on

Alpha-1, so people who are diagnosed with Alpha-1 do they also have

asthma as a disease also or is it just the one diagnosis of Alpha-1, I

only ask this as daughter had a Bronchoscope last Thursday and it showed

holes in the lining of her lungs and brittle lung lining and her pulmo

said they were unusual but anything is possible as she has brittle

asthma and I was wondering now whether the holes in the lungs are

connected to Alpha-1

Simone

> > >

> > > Hi Everyone,

> > >

> > > Recently an article online caught my attention about something

> > called

> > > alpha-1 antitrypsin (AAT) deficiency. It was recommended that

> > patients

> > > with moderate to severe asthma receive testing for this

> condition.

> > > This might be of particular help to those who do not find complete

> > > relief/control from current treatments. This is the first time

> I've

> > > ever heard of this - wanted to share and find out if anyone else

> was

> > > familiar with the condition and treatment.

> > >

> > > The article states: " When a person with deficient levels of AAT

> > inhales

> > > irritants or contracts a lung infection, the neutrophil elastase

> > > released to protect the lungs is uncontrolled and can injure

> healthy

> > > lung tissue. "

> > >

> > > I want to ask my doc to run the test but am not quite sure about

> it.

> > >

> > > http://www.medicalnewstoday.com/articles/88814.php

> > > <http://www.medicalnewstoday.com/articles/88814.php>

> > >

> > >

[Guest guest]

I just checked out two Alpha I.....sites--it is a genetic deficiency that can

effect the liver and the lungs--the body does not produce the protein needed for

protection for those two organs.

For anyone else who has any questions about this deficiency/disorder, let me

suggest you either ask your pulmo or you look it up on the Internet.

Since this site is to be about xolair and our experiences with it, and this

really isn't about xolair I think our moderators would appreciate no further

discussion of this. By the way, there is an Alpha I Antitrypsin group site when

this disorder is googled.

Adah

Simone <miss.sam@...> wrote:

Adah

Ive been reading your posts and I just want some understanding on

Alpha-1, so people who are diagnosed with Alpha-1 do they also have

asthma as a disease also or is it just the one diagnosis of Alpha-1, I

only ask this as daughter had a Bronchoscope last Thursday and it showed

holes in the lining of her lungs and brittle lung lining and her pulmo

said they were unusual but anything is possible as she has brittle

asthma and I was wondering now whether the holes in the lungs are

connected to Alpha-1

Simone

> > >

> > > Hi Everyone,

> > >

> > > Recently an article online caught my attention about something

> > called

> > > alpha-1 antitrypsin (AAT) deficiency. It was recommended that

> > patients

> > > with moderate to severe asthma receive testing for this

> condition.

> > > This might be of particular help to those who do not find complete

> > > relief/control from current treatments. This is the first time

> I've

> > > ever heard of this - wanted to share and find out if anyone else

> was

> > > familiar with the condition and treatment.

> > >

> > > The article states: " When a person with deficient levels of AAT

> > inhales

> > > irritants or contracts a lung infection, the neutrophil elastase

> > > released to protect the lungs is uncontrolled and can injure

> healthy

> > > lung tissue. "

> > >

> > > I want to ask my doc to run the test but am not quite sure about

> it.

> > >

> > > http://www.medicalnewstoday.com/articles/88814.php

> > > <http://www.medicalnewstoday.com/articles/88814.php>

> > >

> > >

[Guest guest]

When I first started seeing a doctor for breathing difficulty and

was diagonosed with COPD and asthma,I asked the doc for a AAT test

because I'm of Celtic decent and carry many Scandanavian genetic

markers. The test came back negative. I'm glad I asked for the

test because now I've been able to tell my children that at least I

did not test positive.

> > > >

> > > > Hi Everyone,

> > > >

> > > > Recently an article online caught my attention about

something

> > > called

> > > > alpha-1 antitrypsin (AAT) deficiency. It was recommended that

> > > patients

> > > > with moderate to severe asthma receive testing for this

> > condition.

> > > > This might be of particular help to those who do not find

complete

> > > > relief/control from current treatments. This is the first

time

> > I've

> > > > ever heard of this - wanted to share and find out if anyone

else

> > was

> > > > familiar with the condition and treatment.

> > > >

> > > > The article states: " When a person with deficient levels of

AAT

> > > inhales

> > > > irritants or contracts a lung infection, the neutrophil

elastase

> > > > released to protect the lungs is uncontrolled and can injure

> > healthy

> > > > lung tissue. "

> > > >

> > > > I want to ask my doc to run the test but am not quite sure

about

> > it.

> > > >

> > > > http://www.medicalnewstoday.com/articles/88814.php

> > > > <http://www.medicalnewstoday.com/articles/88814.php>

> > > >

> > > >