Alpha 1 antitrypsin deficiency reference (medics only pls)?

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My result has come back today as 1.16 g/L. According to all sources I see inc A1AD association, the reference range is 1.5-3.5 (g/l) which would put me significantly below. I have been having asthma-like symptoms for several months with a very sudden onset following infection (chest x-ray and blood otherwise are normal, age 29, non smoker, no liver malfunction). The reference range on the lap report shows 0.96-1.92 a normal distribution range it seems. This is obviously way off from 1.5 to 3.5. Can anyone shed any light?
Thank - I asked to have this test done to try and exclude emphysema. The doctor felt it was unlikely but was happy to do it. I did this because I have had poor reversibility with high steroid dose (6 x 200/6 symbicort daily) and the deficiency is commonly missed as ashtma but the reference range used is very odd to me. No I've not had a full PFT, chest examination is normal so now I'm not clear whether this warrants further examination. I have not spoken to my doc, she just wrote a letter and merely commented that the results were normal. I'm not clear that this one is though.
Why would your doctor do that test to begin with? You must have symptoms pointing him that way. Did you have a Pulmonary Function Test? That and clinical correlation are the only things that would trigger an alpha 1 anti trypsin.Ask your doctor what it means. He/she's the one who puts all the pieces together They may or may not be looking at Panlobular Emphysema. Just make sure you do everything they say.
And I mean that, everything.
God bless.  (+ info)

Does anyone have alpha 1 antitrypsin deficiency and if so is it affecting ur health?

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Im 29 yrs old and i a liver disease none as antitrypsin. lately ive been feeling like ive aged 20 yrs. i fell like crap, im catching all the bugs and flu's i can get, im going grey and im wrecked, im itching all over and ive put on heaps of weight over the past 2 yrs. i don't work im a stay at home mum. im wondering what are the signs if of this disease as my doctor has always brushed it under the carpet?
Well first. your doctor shouldn't be brushing it off. If you have alpha-1 antitrypsin deficiency that will affect your liver and lungs. You need to get this worked up as some of the symptoms you are describing such as tiredness, itching are alarm signs. Also, if you smoke, you shouldn't since you have a much more increased susceptibility towards developing emphysema.  (+ info)

Are there any ill effects of "high" levels of Alpha 1-antitrypsin in one's body?

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Probably way too specific for yahoo answers, but I thought I'd shoot it out there for any doctors, geneticists or molecular biologists to answer.
My blood test came out double the normal range. As I understand it, having too little of this causes disease. Can too much have any effects? Is it possible to have too much at all (normal range inaccurate)?
I do not know why I was tested for this either.
I have read your question carefully and I wish I could ask you a few probing questions. However that doesn't seem possible, to save some time I would like to email (lengthy) a few things you may find helpful
or at least shed some light....and as ALWAYS consult your doctor!
Source(s):
Physician/Family Health 18 years
PhD  (+ info)

What ages does alpha-1 antitrypsin deficency effect?

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Alternative names Return to top
AAT deficiency

Definition Return to top

Alpha-1 antitrypsin deficiency is a lack of a liver protein that blocks the destructive effects of certain enzymes. The condition may lead to emphysema and liver disease.

Causes, incidence, and risk factors Return to top

Alpha-1 antitrypsin deficiency results from a genetic defect. The mechanism that causes associated liver disease and emphysema in some people with this deficiency is not known. However some evidence suggests that it may be related to inflammation. Approximately 75% of adults with severe deficiency will develop emphysema, which often begins before 40 years of age. Smoking can increase risk.

Symptoms Return to top

* Shortness of breath with and without exertion
* Unintentional weight loss
* Wheezing

Additional symptoms that may be associated with emphysema or cirrhosis include the following:

* Abnormal breathing pattern (exhalation takes more than twice as long as inspiration)
* Agitation
* Ankle, feet, and leg swelling
* Awakening from sleep not feeling rested
* Bloody, dark black or tarry bowel movements (melena)
* Breast development in males
* Confusion
* Daytime sleepiness
* Difficulty falling asleep or staying asleep (insomnia)
* Difficulty paying attention
* Dry mouth
* Excessive thirst
* Fatigue
* Fluctuating mood
* Headache
* Impaired concentration
* Impaired judgment
* Impotence
* Increased front-to-back diameter of the chest (barrel-shaped chest)
* Irritability or poor temper control
* Light-headedness or fainting while standing
* Memory loss
* Paleness
* Rapid heart rate when rising to a standing position
* Skin rash or lesion on the hands or feet, redness
* Slow, sluggish, lethargic movement
* Swollen abdomen or increased girth
* Vision abnormalities
* Vomiting blood
* Vomiting material that looks like coffee grounds

Signs and tests Return to top

A physical examination may reveal a barrel-shaped chest. Listening to the chest with a stethoscope may reveal wheezing, crackles, or decreased breath sounds. The following tests may also help with diagnosis:

* Arterial blood gases
* Serum alpha-1 antitrypsin level
* Chest x-ray
* Pulmonary function test
* Genetic testing

Treatment Return to top

Replacement (augmentation) therapy with the missing AAT protein is available. However, it is not known how effective this is once disease has developed or which people would benefit most. Certainly, quitting smoking is crucial.

Other treatments include bronchodilators and prompt antibiotics for upper respiratory tract infections. Lung transplantation may be an option for those who develop end-stage lung disease. In addition, genetic testing of relatives may be recommended.

Expectations (prognosis) Return to top

Some people with this deficiency will not develop liver or lung disease. Emphysema and cirrhosis, however, are both progressive diseases that can kill.

Complications Return to top

* Emphysema
* Cirrhosis  (+ info)

Alpha-1-Antitrypsin Quantitation - Doctors plz help?

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I am 5.8 feet tall, 54 kg wt and of 20 years old. i am non smoker and non alcholic.
My result was 232mg/dl with ref. range ( 90 - 200).
My right side lung collapsed last friday and my doctors operated on me and now my lung is back to normal but my Alpha-1-Antitrypsin quantitation was more than the refrence range as stated above. my questions are:
1) what caused lung collapse?
2) what caused elevated ALpha-1 levels and how to correct it?

chest/lungs specialist Doctors plz help
And how many doctors do you think hang out on Yahoo? You had a doctor operate on you...ask him!!  (+ info)

Could I have alpha 1 antitrypsin?

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I've posted before about my anxiety and how I worried it might be asthma. Now I have a new worry. My anxiety has gotten so bad lately, that I actually went to the ER about 2 weeks ago because I felt like I couldn't breathe. They said I was "moving air" just fine, and just hearing someone say that made me feel better. So I left.

I then when to my regular doc the following day and she checked me out. Said my lungs sounded fine, my throat looked good (when I feel like I can't breathe, it's not my lungs that feel like the problem...it's more of a throat-tightening thing). She said it was probably just stress and gave me a few xanex.

My mom recently told me that my grandfather and uncle both had alpha 1 antitrypsin, and that I should get tested. I'm only 25, but I have smoked (stupidly) for about 13 years. I ran this by my doc, and she said she'd give me the test, but that she was pretty sure it was still just stress.

I'm going to get the test done, but I wanted to ask: would she have heard anything when she listened with her stethoscope if I did have it? I also had an x-ray done a few months ago and it came out clear (except for some inflammation from a recent sinus infection)...would something have shown up there? And also, when I have these "episodes" where I feel like I can't breathe, taking 1/2 a xanex does help me feel better. It wouldn't help if it was the alpha one, right?

Sorry I have so many questions, but I'm just kind of freaking out.
Also, my grandfather and uncle (who was only 39) did die from this. They both smoked. My other uncle (on the same side) also smoked and died from a heart attack, but not from alpha. My mom's side of the family has better genes...would that plus me being a woman better my chances of not having it? My dad doesn't have it...
  (+ info)

Confused...Alpha 1 Antitrypsin?

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My son was diagnosed with Alpha 1 when he was a year old and was told his liver was affected. He just had his yearly blood work done and got the results back today. All his numbers are normal. the Alkaline Phosphatase is high but I think thats just because he's growing. If he truly has liver disease, why are his numbers normal? I have a call into the doctor but its taking a while and I'm sitting here wondering.
This is from the page on Alpha-1 Liver Disease at the website of the Alpha-1 Foundation:

"Of all infants born with ZZ or SZ genes, about 1 in 4 will have blood tests showing that the liver is being injured – and yet, the infants will feel and look fine. In most children with abnormal blood tests, the liver disease improves by itself by the time these children reach their teens, and they remain healthy."

So your son's test results are reassuring, and not surprising.

Having your doctor monitor your child's liver health, as you are doing, is also a very good thing. You can get more information at the sites I have referenced below.

Bob Campbell, Communications Manager, Alpha-1 Foundation  (+ info)

Alpha-1 antitrypsin?? Do any of you know anything about this?

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My husband has it but I know nothing I've looked on the net and most everything is so sceintific that I can't really understand it. Are babies tested for this when they are born? My daughter is having symptoms of this
Are there any natural supplements he could be taking to help?
Babies are not routinely tested for this condition, but if your husband has it, your daughter should be tested. If she is a carrier of the genetic mutation, she could be at increased risk of lung disease if she smokes. Singer Michael Jackson is supposedly ill because of alpha-1 antitrypsin.

http://www.genetics.emory.edu/ask/question.php?question_id=809  (+ info)

I have an Alpha-1 Antitrypsin level of 1.04 with 1.10 being the minimum, should I be concerned?

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i wouldnt be concerned to much just yet, but keep a check up on the level to make sure it it doesnt keep dropping....  (+ info)

I have alpha 1-antitrypsin?

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its resulted in emphyscema & cysts in my lungs. Should I also have my liver tested? I really dont have any symptoms (there arent any in the early stages of cirrhosis) but want to be proactive with this disorder as much as possible.
Or am I over worrying?
5 Kids - ty so much for your response! Would it be possible for you to email me ? I have so many questions for another who has this disorder.
-Loretta
No, your not over worrying. I think you are to be commended for being proactive and taking the bull by the horns as it were to make sure your liver is clear off disease or at least get a base line reading. Alpha 1 is a hard disease to diagnosis and treat. Also, in addition to testing make sure that your physician is getting you referrals to a board certified nutritionist. Diet is very a important of the management of any lung disease. Add to that a low level exercise program to maintain your present state of health or even slowly improve it should be your goal. I wish you ease and comfort on your rough road ahead.  (+ info)

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