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238010 tn?1420409872
genetic deficiency for Alpha-1 Antitrypsin and HCV
I recently found out that I have a genetic deficiency for Alpha-1 Antitrypsin (I got the blood test for it because my sister found out she has it).

From www.alpha1.org/whatisalpha1/a1facts.php  :

"Alpha-1 Antitrypsin Deficiency or Alpha-1 is a genetic (inherited) condition that may result in serious, chronic lung and/or liver disease at various ages in life (children and adults).  Disease is caused by an abnormal alpha1 protein that is mainly produced by the liver. Alpha-1 is diagnosed by a blood test.

Alpha-1 is often misdiagnosed as asthma or smoking-related Chronic Obstructive Pulmonary Disease (COPD). How are the lungs affected?  The abnormal alpha-1 protein is trapped in the liver, causing a deficiency of the protein that would normally circulate in the blood and protect the lungs from many types of damage.  The main result may be emphysema (destruction of supporting structures/air sacs within the lung), even in adult, never smokers. Despite treatments, including protein replacement, adults may require a lung transplant due to severe emphysema.

Liver disorders are caused by the accumulation of the abnormal alpha-1 protein within the liver cells. The effects of such accumulation can range from abnormal liver function tests without symptoms to severe, symptomatic scarring (cirrhosis of the liver) and, rarely, liver cancer.  Children and adults may require a liver transplant if the liver is severely affected.:

It is estimated that 1 in 2500 Americans are affected by it.  From what I understand there's not much you can do it about it except make healthy lifestyle changes.

While this isn't good news for me, it could be worse.  According to my doctor "Your phenotype is M.  The second allele could not be idenified.  It is not Z and not S.  It may be M/Null, but can't be proved."  (see the table at http://www.alpha1.org/whatisalpha1/howdiagnosed.php )

This may explain why it took me 28 weeks to get to undetected and relapsed after 92 weeks of tx.  Or not.  I did recently rule out insulin resistance as a factor in my relapse.

Anyone out there in the same boat, or heard or read about anyone in the same boat?

smaug



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223152 tn?1346981971
I have not heard of this but find it very interesting.  What made them test for this particular thing -- or should I say, what made them test your sister?  I have often suspected that there may be some kind of genetic lung thing on my mother's side (she did die of emphysyma at age 65 and had quit smoking at about age 40).  Are you both suspectible to lots of infections?  What are the symptoms?  What are the abnormal liver tests?

I appreciate the heads up on ths
frijole
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179856 tn?1333550962
My daughter has had chronic obstructive pulmonary disease since she was two years old.  She's almost died of 'asthma attacks' (not really an 'attack' her lungs just completely shut off or plug up) three times in her life. I've had her tested for everything (including Cystic Fibrosis because her cousin does have it but it's on her dad's side I am not a carrier thank God so she doesn't have it).  

I wonder if maybe although she didn't get the CF that because it was carried on one side she ended up with something like this - a missing protein or whatever it is. That way it didn't develop into the fullblown CF but was still sort of there?

My mom's side of the family has asthma (but we are all smokers stupid us) I wonder if it's all connected somehow.  But even if you did find out that you had this missing thing what could they do about it - just replace the protein (whatever it is) would that make a difference?

you can tell you can sign me one mom who would love to find something to help her kid big time!!!!!!!!

Plus now I'm worried someday it could affect her liver.  Gosh things never are easy are they!!!!

It's great to hear from you Smaugie!!!!!!!  ♥

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238010 tn?1420409872
My sister got tested because she has a couple hemangiomas on her liver, one that is relatively large.  As far as I know her liver panels are fine.

Neither of us have had major respiratory problems.  I assume that any associated problems we would have would be minor, since we have one normal allele and one non-normal allele.

Finding out involves just a simple blood test.

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238010 tn?1420409872
If you had your daughter tested for everything, I would hope that your doctor would have tested for the alpha 1 thing too.  Since your daughter has COPD, it might give you peace of mind to confirm either by checking records or just doing the blood test.

The only thing you can do about it is to lead a healthy lifestyle.  Smoking is an absolute no no!  Ceasing alcohol is also recommended. For more info:  www.alpha1.org/whatisalpha1/whatnow.php

Great to hear from you too, nygirl!!  Bummer that it has to be about a subject like this.

smaugie
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179856 tn?1333550962
I suppose she did get tested for it you are right - see I got in a panic and it took your logic to calm me down. It's just so hard to watch her suffer like she does.

Thanks Smaugie, thank you for bringing my head back down out of the clouds!
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